Rapid-recall takeaways distilled from the MRCPCH FOP/TAS question bank, grouped by specialty. One pearl per high-frequency concept. Use it for last-pass revision alongside questions, not as a replacement for them.
1,450 pearls · 20 specialties · Generated 6 November 2026
Nephro-urology
80 high-yield facts
Blue dot sign + normal cremasteric reflex + upper pole tenderness = torsion of appendix testis (NOT testicular torsion) - conservative management with analgesia; most common cause of acute scrotum in pre-pubertal boys; if testicular torsion cannot be excluded, explore surgically.
80-90% of childhood NS is steroid-sensitive - excellent long-term renal prognosis; however, 80% relapse and 50% frequently relapse; most outgrow NS by adolescence; steroid toxicity management is the main clinical challenge.
Undescended testis = orchidopexy by 6-12 months - earlier surgery preserves fertility and reduces (but doesn't eliminate) malignancy risk; non-palpable testes need laparoscopy; 5-10x increased malignancy risk if untreated.
Total DMSA function <100% = overall renal function loss (bilateral damage) - requires long-term CKD follow-up; distinguish between relative differential function (always 100%) and absolute function (can be <100%); bilateral scarring in VUR significantly increases CKD risk.
Class IV lupus nephritis = IV methylprednisolone pulses + MMF or cyclophosphamide for induction - MMF preferred (less toxicity); maintain with MMF/azathioprine for ≥3-5 years; hydroxychloroquine throughout; crescents indicate urgency.
Dysmorphic RBCs + red cell casts = glomerular haematuria (glomerulonephritis) - isomorphic RBCs suggest non-glomerular source; red cell casts are pathognomonic of GN; check complement, ASOT, ANA, and renal function.
Bartter syndrome = TAL defect mimicking chronic furosemide - salt wasting, hypokalaemic metabolic alkalosis, hypercalciuria; antenatal form causes polyhydramnios; treat with potassium replacement + indomethacin + potassium-sparing diuretics.
Hexagonal urine crystals = cystinuria - autosomal recessive; COLA amino acids affected; radiolucent stones; treat with massive fluid intake + urine alkalinisation to pH >7.5; D-penicillamine/tiopronin for refractory cases.
Cardiology
80 high-yield facts
VSD is the most common CHD - it presents at 4-8 weeks with heart failure symptoms as PVR falls, produces a pansystolic murmur at the LLSE, and small defects often close spontaneously.
Modified Duke criteria - 2 major criteria (positive blood cultures with typical organism + endocardial involvement) = definite infective endocarditis; treat with prolonged IV antibiotics (4-6 weeks); surgical intervention for complications.
Pulmonary atresia is a duct-dependent pulmonary circulation lesion - without PGE1 to maintain the ductus, there is no pulmonary blood flow; subsequent management depends on RV size and coronary anatomy.
A single arterial trunk with VSD is truncus arteriosus - strongly associated with DiGeorge syndrome (22q11.2 deletion); requires early surgical repair with RV-PA conduit placement.
Apnoea is the most dangerous side effect of PGE1 - all infants on prostaglandin must have continuous monitoring and intubation capability available; the infusion should be titrated to the lowest effective dose.
Acute rheumatic fever = Jones criteria - evidence of streptococcal infection + 2 major OR 1 major + 2 minor criteria; carditis is the most serious manifestation; the five major criteria are carditis, polyarthritis, chorea, erythema marginatum, and subcutaneous nodules.
Digoxin toxicity = nausea, vomiting, bradycardia, and arrhythmias - narrow therapeutic index; hypokalaemia potentiates toxicity; monitor levels, electrolytes, and renal function; Digibind for life-threatening toxicity; avoid calcium.
WPW = short PR + delta wave + wide QRS - predisposes to SVT; DO NOT give digoxin or verapamil (risk of VF via accessory pathway); many infants outgrow it by 12 months; catheter ablation is curative in older children.
VSD closure is performed via median sternotomy on cardiopulmonary bypass using a patch - surgical mortality is <1%, but heart block is the most important risk due to the proximity of the conduction system; most children have excellent long-term outcomes.
Infection
80 high-yield facts
Airway obstruction from severe EBV tonsillar enlargement requires IV corticosteroids and airway monitoring - avoid amoxicillin (causes rash in EBV); this is a potentially life-threatening complication requiring high-dependency care.
Atovaquone-proguanil is first-line chemoprophylaxis for children in chloroquine-resistant malaria areas - it is started 1-2 days before travel and continued 7 days after return, combined with bite prevention measures.
S. haematobium eggs have a terminal spine and cause urogenital disease with haematuria - S. mansoni eggs have a lateral spine and cause hepatointestinal disease, and praziquantel is the treatment for all Schistosoma species.
Meropenem is first-line for serious ESBL infections as carbapenems resist ESBL hydrolysis - the MERINO trial showed piperacillin-tazobactam was inferior, and carbapenem-resistant organisms represent an escalating global threat.
APECED/APS-1 presents with chronic candidiasis, hypoparathyroidism, and adrenal insufficiency - caused by AIRE gene mutations; candidiasis typically appears first, followed by endocrine components; lifelong monitoring for additional autoimmune complications is essential.
Proptosis and ophthalmoplegia distinguish orbital (postseptal) from preseptal cellulitis - urgent CT and IV antibiotics are needed, with surgical drainage for abscess formation or deteriorating vision.
Ceftriaxone is first-line for typhoid fever in children given high MDR rates - Salmonella Typhi is an intracellular pathogen, and bone marrow culture has the highest diagnostic sensitivity.
Candidaemia requires line removal, systemic antifungals (echinocandin first-line), ophthalmological assessment, and at least 14 days of treatment after first negative culture - all positive Candida blood cultures are clinically significant.
Disseminated BCG disease in a neonate should prompt urgent investigation for SCID - TREC-based newborn screening can identify SCID before live vaccine exposure; X-linked SCID (T-B+NK-) is the most common subtype.
Neurology
80 high-yield facts
CAE = generalised 3 Hz spike-and-wave; ethosuximide is first-line per NICE NG217; avoid carbamazepine/oxcarbazepine/phenytoin (worsen absences); valproate is restricted in females of childbearing potential - use lamotrigine or levetiracetam instead.
Frequent GTCS, especially nocturnal seizures, are the strongest risk factors for SUDEP - optimising seizure control and medication adherence are the most important preventive measures.
Juvenile NCL (Batten disease, CLN3) presents with progressive visual loss, cognitive decline, and seizures - fingerprint profiles on skin biopsy EM are characteristic, and CLN2 disease now has available enzyme replacement therapy.
Bell's palsy = LMN VII palsy (entire hemiface including forehead) - distinguish from UMN (forehead spared); corticosteroids within 72 hours; protect the eye; 90-95% full recovery in children; if no recovery, investigate further.
SSRIs (such as sertraline) are first-line pharmacological treatment for anxiety in ASD when psychological interventions are insufficient - start at low doses and titrate slowly as individuals with ASD may be more medication-sensitive.
Slit ventricle syndrome = chronic overdrainage → tiny ventricles → intermittent catheter obstruction → acute raised ICP in a non-compliant brain - use programmable valves to prevent; technically challenging to manage; consider ETV as an alternative.
HeadSmart red flags for childhood brain tumours - progressive headaches, nocturnal/morning headaches, vomiting, new neurological signs, visual changes, personality change, growth abnormality - any combination warrants urgent MRI brain; average diagnostic delay historically 14-16 weeks.
Down syndrome - expect delayed, variable development with receptive language stronger than expressive; provide structured developmental support and screen for hearing, vision, thyroid and cardiac comorbidities per RCPCH/DSMIG guidance.
ASD is diagnosed by the combination of social communication deficits AND restricted repetitive behaviours - early referral for multidisciplinary assessment and intervention is essential for optimal outcomes.
Neonatology
80 high-yield facts
Cardiac arrhythmia/arrest is the most serious complication of exchange transfusion - continuous cardiac monitoring, slow controlled exchanges, and careful electrolyte management (particularly calcium) are essential for safety.
Grade IV IVH is venous haemorrhagic infarction, not blood extending from the ventricle - the terminal vein is obstructed by adjacent germinal matrix haemorrhage, causing periventricular venous infarction with haemorrhagic transformation.
Hypernatraemia + polyuria + poor weight gain = suspect diabetes insipidus - check paired serum and urine osmolality; high serum with dilute urine confirms the diagnosis.
Congenital toxoplasmosis causes diffuse scattered intracranial calcifications, while congenital CMV causes periventricular calcification - this distinction on neuroimaging helps differentiate the two most important TORCH infections.
Severe neonatal hypoglycaemia characteristically damages the occipital cortex - look for the combination of posterior cortical injury on MRI, visual impairment, and seizures; maintain glucose >2.0 mmol/L in at-risk infants.
BPD is defined at 36 weeks PMA in infants born <32 weeks - severity grading based on respiratory support required at this timepoint (not just oxygen use) better predicts long-term outcomes.
Meropenem is the antibiotic of choice for ESBL-producing Gram-negative infections in neonates - these organisms are resistant to standard penicillins and cephalosporins, and their emergence is driven by excessive broad-spectrum antibiotic use.
Elevated lactate with reduced NAA on MRS indicates anaerobic metabolism and neuronal loss - the lactate/NAA ratio in the basal ganglia is the strongest individual MR biomarker for predicting HIE outcome.
Maternal PROM >18 hours, intrapartum fever, and offensive liquor favour congenital pneumonia over RDS - the two are often radiologically indistinguishable, so empirical antibiotics alongside surfactant is standard practice.
GI and Hepatology
80 high-yield facts
Bilious vomiting in a neonate = malrotation with volvulus until proven otherwise - this is a TIME-CRITICAL surgical emergency; delay causes irreversible bowel necrosis; Ladd's procedure is the definitive surgery.
Air enema reduction is first-line for uncomplicated intussusception - success rate 80-95%; laparotomy is reserved for perforation, peritonitis, shock, or failed reduction; recurrence rate is 5-10%.
Mild-moderate dehydration in gastroenteritis = ORS + continue feeds (NICE CG84) - 50 mL/kg over 4 hours; NG ORS before IV fluids if oral route fails; loperamide is contraindicated under 12 years.
PAS-positive, diastase-RESISTANT globules = pathognomonic for A1AT deficiency - represents polymerised Z protein trapped in hepatocyte ER; glycogen is PAS-positive but diastase-SENSITIVE; this histological distinction is critical.
PUCAI ≥65 = acute severe colitis - admit for IV hydrocortisone; reassess at day 3-5 and consider rescue therapy (ciclosporin or infliximab) if no response; watch for toxic megacolon.
Kasai before 60 days = best outcomes (~50% clear jaundice); before 30 days is ideal (~80%); the '14-day rule' for persistent jaundice is critical for early detection of biliary atresia.
First-degree relatives of coeliac patients have a 5-10% risk - offer tTG-IgA screening; negative HLA-DQ2/DQ8 virtually excludes future coeliac risk; periodic rescreening is recommended as disease can develop at any age.
Failed enema reduction of intussusception = proceed to operative reduction (laparotomy or laparoscopy) - manual reduction if bowel is viable; resection if necrotic; appendicectomy is often performed simultaneously.
Non-caseating granulomas are pathognomonic for Crohn's (present in 30-50% of biopsies) - Crohn's is transmural with skip lesions; UC is continuous and mucosal; IBD-U is diagnosed when features are indeterminate.
Choledochal cyst = cystic dilatation of bile duct + jaundice + mass - complete excision with Roux-en-Y reconstruction is required to prevent cholangiocarcinoma; Todani Type I is most common (80-90%).
Genetics and Metabolic Medicine
80 high-yield facts
Fabry = painful acroparaesthesiae + angiokeratomas + hypohidrosis in a boy (X-linked) - α-galactosidase A deficiency; progressive renal, cardiac, and cerebrovascular disease; carrier females can be symptomatic; ERT or migalastat are available treatments.
Translocation Down syndrome - karyotype BOTH parents; inherited translocation = higher recurrence (10-15% if maternal, 3-5% if paternal); de novo = low recurrence (~1%); 21;21 translocation carrier = 100% affected offspring; offer prenatal diagnosis.
BWS = macrosomia + macroglossia + omphalocele + hemihypertrophy + neonatal hypoglycaemia - screen for Wilms tumour (renal US every 3-4 months to age 7-8) and hepatoblastoma (AFP every 3 months to age 4); imprinted genes at 11p15.
MLD = arylsulphatase A deficiency → sulphatide accumulation → progressive demyelination (CNS and PNS) - 'metachromatic' granules on biopsy; late-infantile form is most common; gene therapy (Libmeldy) approved for pre-symptomatic patients; HSCT may help if done early.
SCD = autosomal recessive, 25% risk if both parents carry HbS - Glu6Val mutation in beta-globin; detected on newborn screening; start penicillin prophylaxis at 3 months; carrier state (sickle trait) protects against malaria.
Aniridia = check for 11p13 deletion - if PAX6 + WT1 deleted = WAGR syndrome with ~50% Wilms tumour risk; isolated aniridia (PAX6 only) has NO increased Wilms risk; all aniridia patients need genetic testing to determine surveillance needs.
Elevated lactate:pyruvate ratio (>20) = respiratory chain dysfunction (increased NADH:NAD+); NORMAL ratio with elevated lactate = PDH deficiency or other causes; CSF lactate is more reliable than blood lactate; sample without tourniquet, on ice, analyse promptly.
Rett syndrome = MECP2 (Xq28), de novo, almost exclusively female - males hemizygous and usually die; regression at 6-18 months with loss of hand skills, replaced by hand-wringing stereotypies; acquired microcephaly; second most common cause of severe female ID.
Haematology and Oncology
80 high-yield facts
Factor VIII inhibitors (20-30% of severe haemophilia A) = use bypassing agents (rFVIIa, aPCC) for acute bleeding; emicizumab for prophylaxis; immune tolerance induction to eradicate inhibitor; high-responder vs low-responder determines management approach.
Persistent fever >48-72 hours despite antibiotics in neutropenia = add empirical antifungal - liposomal amphotericin B or caspofungin; Aspergillus and Candida are the key pathogens; CT chest for 'halo sign'; galactomannan for Aspergillus; antifungal prophylaxis during high-risk periods.
MS neuroblastoma = spontaneous regression likely - observe if MYCN not amplified, infant <18 months, limited metastases; >90% survival; intervene only if life-threatening hepatomegaly or cytopenias; MYCN amplification changes everything - requires intensive treatment; unique biological phenomenon.
Headache + vomiting + cranial nerve palsy in ALL = suspect CNS relapse - diagnostic LP for CSF cytology; intrathecal chemotherapy is part of all ALL protocols to prevent CNS relapse; CNS relapse is a poor prognostic indicator requiring treatment intensification ± HSCT.
Positive patient identification at the bedside = the most important safety step - ABO-incompatible transfusion from clerical error is the most common cause of fatal transfusion reaction; two-person check at bedside; monitor vital signs at baseline and 15 minutes.
Central line infection in febrile neutropenia = broad-spectrum antibiotics + vancomycin/teicoplanin; coagulase-negative Staph is the most common pathogen; blood cultures from line AND periphery; line removal if persistent infection, Candida, or tunnel infection.
Anaemia + reticulocytosis + unconjugated hyperbilirubinaemia + positive DAT = AIHA - corticosteroids are first-line; consider secondary causes (SLE, Evans syndrome, ALPS, immunodeficiency); crossmatching may be difficult but transfuse if clinically needed.
Mild microcytic anaemia + normal ferritin + HbA2 >3.5% = beta-thalassaemia trait - no treatment needed; genetic counselling is key; iron deficiency can mask the elevated HbA2; if both parents are carriers, 25% risk of thalassaemia major per pregnancy.
Minor Specialties
80 high-yield facts
ROP screening begins at 30-31 weeks PMA for infants born <27 weeks - treatment with anti-VEGF or laser is indicated for type 1 ROP, and plus disease is the key indicator of severity.
New progressive ptosis in a child warrants orbital imaging to exclude rhabdomyosarcoma - the differential includes congenital, neurogenic, myogenic, and mechanical causes, and any ptosis obscuring the visual axis requires treatment to prevent amblyopia.
Lateral brow dermoid cysts are congenital and fixed to periosteum - imaging should be performed before excision to exclude deep extension (especially medial dermoids), and complete excision including the periosteal attachment prevents recurrence.
Panic attacks cause intense fear with multiple physical symptoms peaking within minutes - organic causes must be excluded, and CBT is the first-line treatment for panic disorder.
SJS involves mucosal erosions plus <10% skin detachment - lamotrigine rapid escalation is a common trigger, immediate drug cessation is critical, and ophthalmological assessment is essential to prevent corneal scarring.
A kerion is an inflammatory reaction to scalp dermatophyte infection, NOT a bacterial abscess - treatment is systemic antifungals (not incision and drainage), and a short course of oral prednisolone may reduce scarring.
ANA-positive oligoarticular JIA diagnosed in young children requires slit-lamp screening every 2-3 months - uveitis is typically asymptomatic and can cause irreversible visual loss if undetected.
MRI with contrast is the gold-standard imaging for bone and joint infections - it detects osteomyelitis within 24-48 hours (when X-rays are still normal), identifies abscesses, and can show concurrent osteomyelitis and septic arthritis.
CFS/ME is diagnosed after 3 months of unexplained fatigue with post-exertional malaise - energy management (pacing) is the recommended approach, graded exercise therapy is no longer recommended by NICE (NG206), and recovery rates are better in children than adults.
Respiratory and ENT
80 high-yield facts
Omalizumab is the first-line biologic for severe allergic asthma with elevated IgE - it binds circulating IgE and is given subcutaneously every 2-4 weeks in children ≥6 years with documented allergic sensitisation.
Bronchiectasis in a young child always requires investigation for an underlying cause - low immunoglobulins with absent IgA point to primary antibody deficiency requiring immunoglobulin replacement therapy.
Sudden choking followed by unilateral wheeze and hyperinflation equals foreign body aspiration until proven otherwise - urgent rigid bronchoscopy is both diagnostic and therapeutic.
MART uses a single ICS/formoterol combination inhaler for both maintenance and relief - formoterol's rapid onset makes it suitable as a reliever, and every relief dose delivers anti-inflammatory ICS.
CFRD is the most common non-pulmonary complication of CF in adolescents - it requires insulin (not metformin), and the high-calorie CF diet must be maintained with insulin adjusted to food intake, not food restricted to match insulin.
Montelukast blocks the CysLT1 receptor, reducing leukotriene-mediated inflammation and bronchoconstriction - monitor for neuropsychiatric side effects and use as an add-on to ICS, not as monotherapy replacement.
Amoxicillin is first-line for paediatric CAP - S. pneumoniae remains the most common cause and is reliably penicillin-sensitive in the UK; add macrolide if atypical infection is suspected.
CF newborn screening starts with IRT on the blood spot at day 5 - elevated IRT triggers CFTR mutation analysis, followed by confirmatory sweat test; early diagnosis improves long-term outcomes.
Discontinue oxygen when SpO2 ≥92% in air for at least 4 hours including a sleep period - this criteria ensures the infant can maintain adequate oxygenation independently before discharge.
CF patients need 120-150% of normal calorie intake - nutritional status directly correlates with lung function, and BMI should be maintained ≥50th centile with high-fat diet, adequate PERT, and fat-soluble vitamin supplementation.
Respiratory
80 high-yield facts
High lipid-laden macrophage index in BAL suggests chronic aspiration - it is sensitive but not specific; correlate with clinical history and additional investigations (VFSS, pH study) for definitive diagnosis of aspiration.
Recurrent pneumothoraces + multiple bilateral pulmonary cysts = consider Birt-Hogg-Dubé syndrome - autosomal dominant FLCN mutation; screen for renal tumours with annual imaging; also causes cutaneous fibrofolliculomas.
Use IGRA to confirm positive Mantoux in BCG-vaccinated children - IGRA uses TB-specific antigens not found in BCG, providing better specificity; follow the NICE contact screening pathway for systematic evaluation.
Hilar lymphadenopathy causing bronchial compression is the hallmark of childhood primary TB - differs from adult cavitary disease; right middle lobe is most vulnerable; lymph node enlargement can cause collapse, hyperinflation, or bronchiectasis.
Simple parapneumonic effusion has pH >7.2, glucose >2.2 mmol/L - treat with antibiotics alone; pH <7.2 indicates complicated effusion requiring drainage; pH is the single most useful biochemical parameter.
NTM isolation requires clinical, radiological, AND microbiological criteria before treatment - repeat cultures are essential; MAC treatment uses macrolide + ethambutol + rifampicin for 12+ months after culture conversion.
Painless cervical lymphadenopathy + positive Mantoux = tuberculous lymphadenitis (scrofula), the most common extrapulmonary TB in children - FNA for diagnosis, standard 6-month treatment; paradoxical worsening after starting treatment is common and expected.
Residual hilar calcification after TB treatment is a normal healing response - it is part of the Ranke complex and persists indefinitely; it does not indicate active disease, treatment failure, or need for retreatment.
Low IgG + recurrent sinopulmonary infections + poor vaccine responses = CVID - treat with lifelong immunoglobulin replacement; early diagnosis and treatment prevent progressive bronchiectasis; screen for autoimmune and granulomatous complications.
General Paediatrics and Emergency
80 high-yield facts
Multiple magnet ingestion = surgical emergency - magnets attract across bowel walls causing perforation, fistula, and obstruction; single magnet = usually conservative; always get AP AND lateral X-ray; rare-earth magnets are most dangerous; surgical assessment for all cases.
Soot + singed nasal hairs + stridor in a fire victim = inhalation injury requiring EARLY intubation before airway oedema progresses - always consider CO and cyanide poisoning; use Lund and Browder chart for burns assessment in children.
NAI burns have clear demarcation, uniform depth, and pattern matching an object - accidental contact burns have irregular margins from reflexive withdrawal; immersion burns with 'tide marks' suggest forced immersion; always document and refer if concerned.
Venom immunotherapy (VIT) is the definitive treatment for insect venom anaphylaxis - 95% effective in preventing future systemic reactions; administered over 3-5 years in specialist centres; patients should still carry adrenaline auto-injectors during treatment.
Turner syndrome = short stature + primary amenorrhoea + webbed neck + shield chest - karyotype for diagnosis; cardiac screening essential (BAV, coarctation); growth hormone for height; oestrogen for puberty induction; lifelong multidisciplinary care.
SSSS = widespread tender erythema + superficial peeling + Nikolsky sign + perioral crusting in a young child - caused by S. aureus exfoliative toxins; superficial split (good prognosis, no scarring) distinguishes it from TEN/SJS (dermo-epidermal split, serious prognosis).
Koplik spots (white spots on buccal mucosa) are pathognomonic for measles and appear before the rash - measles is notifiable; complications include pneumonia and encephalitis; MMR vaccination is the key preventive measure.
DKA insulin starts 1-2 hours AFTER IV fluids - 0.05-0.1 units/kg/hr; NO bolus insulin; glucose should fall <5 mmol/L/hr; add glucose to fluids at 14 mmol/L; continue insulin until ketones <0.6 mmol/L.
Safeguarding Ethics and Governance
80 high-yield facts
Child's life > parental religious beliefs - courts have ALWAYS authorised life-saving transfusions for children; specific issue order from the court; if imminent death and no time for court, proceed under necessity; child's best interests are paramount; respectful discussion with parents but firm action to protect the child.
Anorexia nervosa + treatment refusal = complex legal area - MHA (Section 3), MCA (capacity assessment), and court (inherent jurisdiction) all available; anorexia can impair capacity even in apparently competent patients; Re W (1992); use least restrictive framework; MDT decision-making essential.
16-17 = presumed capacity to CONSENT but refusal can be overridden by the court - unlike adults with capacity; apply urgently to High Court for life-saving treatment; Re W (1992) is the key case; in extremis, treat under necessity; parental consent can also authorise treatment child refuses.
Four principles = autonomy + beneficence + non-maleficence + justice - Beauchamp and Childress; principles often conflict in practice; in paediatrics, child's best interests override parental autonomy when they conflict; framework for ethical analysis, not a set of rules.
Pre-birth safeguarding = essential when significant risk factors exist - pre-birth assessment, pre-birth CP conference by 28 weeks; plan for baby's safety AT birth; previous children removed = high risk factor; multi-agency involvement antenatally; do NOT wait until birth to act.
Allegation against professional = contact LADO within 1 working day - manages allegations against people in positions of trust; strategy discussion if threshold met; suspension may be protective, not punitive; hospital safeguarding team + HR also informed; police if criminal offence possible.
Under-16 + significant age gap = always refer for safeguarding assessment - sexual activity with under-16 is a criminal offence; power imbalance suggests exploitation; the child may not recognise the exploitation; assess for CSE, grooming, coercion; Sexual Offences Act 2003.
Spiral femoral fracture in a non-ambulant child = NAI until proven otherwise - admit, skeletal survey, safeguarding referral; do NOT need proof before referring; inconsistent history is a key red flag; follow-up skeletal survey at 11-14 days for occult fractures.
Endocrine and Growth
80 high-yield facts
Solitary hard fixed thyroid nodule + lymphadenopathy = suspect malignancy - ultrasound + FNA cytology is the key investigation; ~20-25% of paediatric thyroid nodules are malignant; papillary carcinoma is most common with excellent prognosis.
Suppressed TSH + high T4 on levothyroxine = over-replacement - reduce dose; monitor 6-8 weeks after changes; over-replacement risks accelerated bone age and reduced final height; target TSH in normal range, T4 in upper half of reference.
Sublingual thyroid = most common ectopic location - results from failed descent; most common cause of thyroid dysgenesis; before excising any thyroglossal duct cyst, confirm normal thyroid tissue exists to avoid inadvertent total thyroidectomy.
Competitive female athlete + low BMI + delayed puberty + low gonadotrophins = RED-S/Female Athlete Triad - energy availability is the key driver; treatment is increased caloric intake and reduced training; long-term bone density loss is a serious risk.
CDGP = delayed bone age + family history of late puberty + normal growth velocity - late pubertal growth spurt achieves normal adult height; bone age delay = preserved growth potential; no treatment needed but testosterone trial available for psychosocial support.
CDGP - most common cause of delayed puberty in boys; positive family history, delayed bone age, normal velocity; spontaneous puberty will occur; consider low-dose testosterone for psychosocial support (RCPCH/BSPED).
Down syndrome = annual thyroid screening (TSH) from birth - 15-20% develop autoimmune hypothyroidism; subclinical hypothyroidism with positive antibodies = monitor 6-monthly; treat if TSH >10, symptoms, or growth concerns.
Klinefelter (47,XXY) = tall stature + small firm testes + gynaecomastia + learning difficulties - testosterone replacement for hypogonadism; micro-TESE for fertility; most common sex chromosome aneuploidy in males (~1 in 600).
GH stimulation test with ≥2 provocative agents is required - peak GH <7 μg/L confirms GHD; ITT is gold standard but risky; always perform MRI brain/pituitary after biochemical confirmation; check for other pituitary hormone deficiencies.
Pharmacology and Therapeutics
80 high-yield facts
Rash + fever + eosinophilia + organ involvement 2-8 weeks after starting an AED = DRESS syndrome - stop the drug immediately; mortality 5-10% mainly from hepatitis; monitor thyroid function for months after as autoimmune thyroiditis is a late complication.
Levamisole is first-line steroid-sparing for FRNS - simple to use (alternate-day dosing), well-tolerated, but monitor FBC for neutropenia; the steroid-sparing ladder progresses through levamisole → cyclophosphamide → CNI → MMF → rituximab.
Isotonic (0.9% NaCl + 5% glucose) is the standard paediatric maintenance fluid - hypotonic fluids cause dangerous hyponatraemia; monitor U&Es at least daily and use the Holliday-Segar formula for maintenance calculations.
Cephalosporins are beta-lactams acting on PBPs - ceftriaxone is avoided in neonates with calcium-containing fluids (use cefotaxime instead); generations indicate increasing Gram-negative coverage.
Non-painful imaging sedation = oral/IV midazolam (school-age) or chloral hydrate (younger children) - always try non-pharmacological approaches first; full monitoring required; midazolam provides anxiolysis and amnesia without analgesia.
Valproate-induced pancreatitis is rare but potentially fatal - can occur at any time, not dose-related; stop valproate immediately and switch AED; warn families about severe abdominal pain as a red-flag symptom.
Poor adherence and milk/food co-administration are the commonest reasons for oral iron failure - take on an empty stomach with vitamin C; continue for 3 months after Hb normalises to replenish stores; investigate non-responders for coeliac disease.
IV ketamine is the gold standard for paediatric procedural sedation - maintains airway reflexes and breathing, provides analgesia and amnesia; give midazolam to reduce emergence phenomena; requires full monitoring and recovery observation.
Hyperthermia + rigidity + metabolic acidosis during/after volatile anaesthesia = malignant hyperthermia - dantrolene 2.5 mg/kg IV is the antidote; stop the trigger, cool actively, and treat hyperkalaemia; autosomal dominant RYR1 mutation.
Endocrinology
50 high-yield facts
Rickets radiology = widened, cupped, frayed metaphyses + widened growth plates + osteopenia - wrist and knee are best sites; healing shows recalcification; rachitic rosary on CXR; Harrison sulcus; bowing of weight-bearing bones.
Surgery/GA in adrenal insufficiency = IV hydrocortisone 2 mg/kg bolus at induction then 100 mg/m²/day - communicate with anaesthetics; fludrocortisone can be omitted during high-dose IV hydrocortisone; taper back to normal dose when oral intake resumes; monitor glucose and electrolytes; steroid card essential.
Premature adrenarche = pubic/axillary hair + body odour WITHOUT breast development - mild DHEAS elevation; exclude non-classic CAH (17-OHP) and adrenal tumour; associated with PCOS risk in adolescence; benign but needs monitoring; diagnosis of exclusion.
Peripheral precocious puberty = GnRH analogues don't work - letrozole for MAS in girls; ketoconazole for boys; treat the source not the HPG axis; secondary CPP can develop on top of peripheral PP - may need GnRH analogue added later.
Short Synacthen test = 250 μg IV/IM ACTH, cortisol at 0 and 30 min - normal = cortisol ≥550 nmol/L; abnormal confirms adrenal insufficiency; high ACTH = primary (Addison's), low ACTH = secondary; perform before 9 am; may be falsely normal in early secondary AI.
Peripheral precocious puberty = advanced sexual development + prepubertal testes + suppressed gonadotrophins - testosterone from adrenal or tumour, NOT the HPG axis; CAH and adrenal tumour are key causes; unilateral testicular enlargement suggests Leydig cell tumour; McCune-Albright has café-au-lait spots + fibrous dysplasia.
Sick day rules = double/triple hydrocortisone dose during illness - IM hydrocortisone if vomiting; families need emergency injection kit + steroid card + MedicAlert; never stop steroids during illness; adrenal crisis is life-threatening and preventable with appropriate stress dosing.
Male neonate with hyponatraemia + hyperkalaemia + acidosis + shock = salt-wasting CAH until proven otherwise - IV saline + IV hydrocortisone urgently; send 17-OHP before treating if possible; UK screening may not return before the crisis; males lack the diagnostic clue of ambiguous genitalia.
Gastroenterology and Hepatology
50 high-yield facts
PSC = MRCP showing beaded bile ducts - strongly associated with UC; elevated ALP/GGT; ursodeoxycholic acid may help biochemistry; increased risk of cholangiocarcinoma and CRC; ASC (paediatric overlap with AIH) may respond to immunosuppression; liver transplant for ESLD.
HBV vertical transmission prevention = HBIG + vaccine within 12 hours of birth - 90-95% effective; high viral load mothers may also receive antiviral therapy in pregnancy; test infant at 12 months; breastfeeding is safe; universal antenatal screening identifies at-risk infants.
Biliary atresia = commonest indication for paediatric liver transplant (~40-50%) - despite Kasai, 50-70% ultimately need transplant; 1-year survival >90%; tacrolimus-based immunosuppression; monitor for rejection and PTLD; living-related and split-liver grafts have reduced waiting list mortality.
Alagille syndrome = bile duct paucity + ≥3 major features (cholestasis, cardiac, vertebral, eye, facies) - JAG1 mutations; autosomal dominant; pruritus is the most debilitating symptom; posterior embryotoxon is seen in 90%; peripheral pulmonary stenosis is the commonest cardiac defect; 20-30% need liver transplant.
CBD stones = ERCP with stone extraction + laparoscopic cholecystectomy - investigate underlying cause of gallstones in children (haemolytic anaemias); ERCP requires experienced paediatric endoscopist; urgent ERCP if cholangitis; post-cholecystectomy diarrhoea may occur.
HPS = intrapulmonary vascular dilatations in liver disease causing hypoxaemia - platypnoea-orthodeoxia (worse sitting, better lying); diagnosed by bubble echocardiography; no medical treatment; liver transplantation is curative; indication for transplant regardless of liver disease severity.
Duodenal atresia = double bubble + no distal gas + bilious vomiting on day 1 - ~30% Down syndrome; echocardiogram and renal USS for associated anomalies; surgical duodenoduodenostomy; >90% survival (BAPS).
Pharmacology
50 high-yield facts
Busulfan requires pharmacokinetic-guided dosing to target the therapeutic AUC - SOS/VOD is the most feared toxicity (treated with defibrotide), and seizure prophylaxis is mandatory during busulfan administration.
PTLD is an EBV-driven malignancy in transplant recipients - reduction of immunosuppression is the critical first step, EBV PCR monitoring is standard, and EBV-seronegative recipients are at highest risk.
Infliximab is a chimeric anti-TNF-alpha antibody - TB screening is mandatory before starting, anti-drug antibodies can reduce efficacy, and live vaccines are contraindicated during treatment.
Premature neonates lose sodium due to renal tubular immaturity - they need 3-5 mmol/kg/day sodium supplementation, and hyponatraemia on day 3-5 most commonly reflects inadequate sodium intake relative to high renal losses.
IM adrenaline is THE first-line treatment for anaphylaxis - 150 µg for ages 6 months-6 years, 300 µg for 6-12 years, 500 µg for >12 years, given into the anterolateral thigh, repeatable every 5 minutes.
Tacrolimus inhibits calcineurin via FKBP12 binding, blocking IL-2 transcription - it has a narrow therapeutic index requiring trough level monitoring, and nephrotoxicity is the most important long-term side effect.
IL-1 is the key cytokine in systemic JIA - anakinra and canakinumab target IL-1 and are highly effective, and systemic JIA is autoinflammatory rather than autoimmune.
Ustekinumab blocks the p40 subunit shared by IL-12 and IL-23, inhibiting Th1 and Th17 pathways - anti-IL-17 agents (secukinumab) can worsen IBD, and ustekinumab has a favourable safety profile compared to anti-TNF agents.
Post-operative ADH secretion reduces free water excretion - use isotonic fluids at 50-80% maintenance to prevent dilutional hyponatraemia, and hypotonic fluids are no longer recommended for paediatric maintenance.
Antibody-mediated rejection requires plasmapheresis + IVIG + intensified immunosuppression - C4d positivity on biopsy and circulating donor-specific antibodies are diagnostic, and AMR has worse outcomes than T-cell-mediated rejection.
General Paediatrics
50 high-yield facts
Expected vocabulary at 3 years = 200-1000 words with 3-4 word sentences - expressive-receptive discrepancy with intact social skills suggests isolated expressive language disorder; always compare expressive and receptive language levels.
Absent joint attention + absent pointing + no words at 12 months = social communication delay - high specificity for ASD; always exclude hearing loss first; motor development being intact makes global delay less likely.
Not walking at 14 months with cruising and normal examination = normal variation - limit age is 18 months for crawlers; red flags include regression, abnormal tone, absent reflexes, and delays in other domains.
Always correct for prematurity until at least 2 years - corrected age = chronological age minus weeks premature; 26-week preterm infant at 30 months chronological = ~27 months corrected; very preterm infants need follow-up at 2 years corrected and school entry.
ADOS-2 is the gold standard observational tool and ADI-R the gold standard parent interview for ASD diagnosis - assessment must be multidisciplinary; DSM-5 requires deficits in social communication AND restricted/repetitive behaviours; screen for co-occurring conditions.
Parachute reflex = postural protective reflex appearing at 8-9 months, persists for life - its absence combined with persistent primitive reflexes strongly suggests cerebral palsy; isolated absence needs monitoring but is not diagnostic alone.
Motor delay + hypotonia = investigate - central (chromosomal, brain) vs neuromuscular (SMA, myopathy) causes; CK is key first-line test; SMA is treatable and increasingly screened for; chromosomal microarray is first-line genetic test.
Average independent walking = 12-15 months, limit age 18 months for crawlers - wide normal variation (9-18 months); bottom-shufflers may walk up to 24 months; always assess neurological examination alongside milestone timing.
Gastroenterology
50 high-yield facts
CRC surveillance starts 8-10 years after UC symptom onset - paediatric-onset UC has higher cumulative risk due to longer disease duration; surveillance interval 1-5 years based on risk factors; PSC is a major risk factor; chromoendoscopy is recommended; mesalazine may be chemoprotective.
EoE = dysphagia + food impaction + atopic background + ≥15 eosinophils/hpf - swallowed topical steroids and/or dietary elimination are first-line; chronic relapsing condition needing maintenance; endoscopic features include rings, furrows, and exudates; strong atopic association.
Paediatric gallstones - recurrent RUQ pain with fatty food trigger + obstructive LFTs - ultrasound first-line; investigate underlying cause (haemolytic anaemia, obesity); laparoscopic cholecystectomy for symptomatic stones; rising incidence due to childhood obesity.
FPIES = profuse vomiting 1-4 hours post-ingestion + hypotension - non-IgE (skin tests negative); mimics sepsis; IV ondansetron for acute episodes; most common triggers are cow's milk, soya, and grains; most outgrow by 3-5 years.
GOR = normal physiological reflux in a thriving 'happy spitter' - resolves by 12 months in 90%; no investigation or treatment needed beyond reassurance; distinguish from GORD which causes complications; red flags include bilious vomiting and faltering growth.
UC = continuous mucosal inflammation extending proximally from rectum - bloody diarrhoea with mucus and urgency; paediatric UC is often more extensive than adult; 5-ASA for mild-moderate, steroids for flares; colectomy is curative; distinguish from Crohn's by continuous vs skip pattern.
Giardia = foul-smelling greasy diarrhoea after camping/contaminated water + cysts on microscopy - treat with metronidazole; consider in chronic diarrhoea; more common in IgA deficiency; post-infectious lactose intolerance may persist; stool antigen test is more sensitive than microscopy.
Synpharyngitic haematuria (during URTI, not 1-3 weeks after) with normal complement = IgA nephropathy - most common GN worldwide; biopsy shows mesangial IgA; most children have benign prognosis; persistent proteinuria predicts worse outcome.
Persistently low C3 beyond 3 months + nephritic features = think MPGN/C3 glomerulopathy, NOT PSGN - biopsy shows tram-track GBM; check C3NeF; PSGN complement normalises within 6-8 weeks; 50% MPGN → ESRD within 10 years.
Horseshoe kidney = lower pole fusion trapped under IMA during ascent - associated with Turner syndrome; usually incidental and asymptomatic; predisposes to UTI, stones, and PUJ obstruction; slightly increased Wilms tumour risk.
Fanconi syndrome = generalised proximal tubular leak (bicarbonate + glucose + amino acids + phosphate + urate + potassium) - cystinosis is the most common inherited cause in children; treat with cysteamine + solute replacement; rickets from phosphate loss is a key presentation.
Typical childhood nephrotic syndrome (age 1-10, no atypical features) = trial of prednisolone WITHOUT biopsy; biopsy only if: atypical features, age extremes, steroid resistance, or secondary cause suspected; steroid response confirms the diagnosis.
rhGH for CKD growth failure - optimise nutrition, correct acidosis, and control phosphate first; given daily SC; continue until final height or epiphyseal closure; growth failure in CKD is multifactorial (GH resistance, acidosis, osteodystrophy, malnutrition).
Proteus UTI = think struvite stones - urease splits urea → alkaline urine → MgNH4PO4 precipitation; more common in boys; ultrasound to check for stones; treat infection and investigate for anatomical abnormality.
CKD → reduced calcitriol → hypocalcaemia + hyperphosphataemia → secondary hyperparathyroidism → renal osteodystrophy - treat with phosphate binders + active vitamin D (alfacalcidol); CKD-MBD includes bone disease, biochemical derangement, and vascular calcification.
Bladder bowel dysfunction = LUTS + constipation - present in 40% of children with recurrent UTIs; constipation treatment is key (Movicol, fluid, fibre); timed voiding and correct toilet posture; treating BBD may improve VUR and reduce UTI recurrence.
Cardiovascular disease = #1 cause of death in paediatric CKD/ESRD - 30-100x higher than healthy children; LVH in up to 75% starting dialysis; aggressive BP control (ACE inhibitors), anaemia correction, and phosphate management are key preventive strategies.
Metabolic acidosis + alkaline urine (pH >5.5) + hypokalaemia = distal (type 1) RTA - cannot acidify urine; complications: nephrocalcinosis, stones, growth failure; treat with oral alkali; inherited forms may cause sensorineural deafness.
FRNS = ≥2 relapses in 6 months OR ≥4 in 12 months - requires steroid-sparing agents; ladder: levamisole → cyclophosphamide → CNI → MMF → rituximab; each relapse treated with prednisolone until 3 days protein-free.
Alarm therapy - minimum 3 months, goal of 14 consecutive dry nights; 65-70% success rate; lower relapse than desmopressin (30% vs 50%); requires family motivation; overlearning after success consolidates response.
Megaureter types - obstructive, refluxing, both, or non-obstructive non-refluxing (most common, resolves spontaneously); MCUG to exclude VUR, MAG3 to assess obstruction; non-obstructive non-refluxing usually resolves by age 2-3.
ACE inhibitors and ARBs are TERATOGENIC - stop immediately in pregnancy; cause renal agenesis, oligohydramnios, and skull defects; switch to labetalol or nifedipine; all adolescent girls on ACEi/ARBs need contraceptive counselling.
Type 4 RTA = aldosterone deficiency/resistance → HYPERKALAEMIA + mild metabolic acidosis (the only RTA with high K+); most common paediatric cause is CAH; treat with fludrocortisone; types 1 and 2 RTA cause hypokalaemia.
Nephrotic syndrome with hypotension + rising creatinine = pre-renal AKI from intravascular depletion - despite peripheral oedema, the intravascular space is dry; treat with IV albumin + furosemide; avoid diuretics alone in hypovolaemic nephrotic patients.
Varicella in immunosuppressed nephrotic child = IV aciclovir urgently - potentially fatal; prevention: check VZV IgG, vaccinate when off immunosuppression, VZIG for exposure; do NOT abruptly stop steroids.
Daytime urgency + frequency + wetting + soiling = overactive bladder with BBD - treat constipation FIRST (often resolves wetting too); timed voiding, adequate fluids, correct posture; oxybutynin second-line after behavioural measures fail.
Primary nocturnal enuresis - alarm therapy is first-line (65-70% long-term cure); desmopressin is second-line (50% relapse after stopping); affects 15% of 5-year-olds, 15% spontaneous annual resolution; strong genetic component.
Cyclophosphamide gonadotoxicity is cumulative and dose-limiting - max 168 mg/kg total (one course only); more damaging in boys; haemorrhagic cystitis prevented by hydration/mesna; increasingly replaced by MMF and rituximab in paediatric NS.
Enuresis with daytime LUTS = consider oxybutynin for detrusor overactivity - may combine with alarm or desmopressin; watch for constipation (worsens BBD); modified-release has fewer side effects; imipramine is last resort due to cardiac toxicity risk in overdose.
SIOP protocol for Wilms = pre-op chemo (VCR + actinomycin D) → nephrectomy → post-op treatment; NEVER biopsy percutaneously; >90% survival for localised disease; lungs are the most common metastatic site.
CNS involvement in HUS (10-20%) = seizures, altered consciousness, PRES - control BP urgently, correct electrolytes, treat seizures; MRI shows posterior white matter changes in PRES; most neurological complications resolve but some have long-term sequelae.
Desmopressin for enuresis = strict fluid restriction (1 hour before to 8 hours after) - water intoxication and hyponatraemia can be fatal; review every 3 months with trial off; sublingual melt has better absorption; contraindicated in habitual polydipsia.
Hyperkalaemia >6.5 mmol/L in AKI is a medical emergency - calcium gluconate for cardiac protection, then salbutamol + insulin-glucose to shift K+ intracellularly, then resonium/dialysis to remove; get an urgent ECG.
Fever ≥38°C with UTI in a child = upper UTI (pyelonephritis) requiring 7-10 days of antibiotics; under 3 months always refer for IV antibiotics; NICE CG54 guides imaging based on age, atypical features, and recurrence.
High-phosphate foods in CKD = dairy, processed foods, cola, meat, nuts, chocolate - phosphate binders with meals (calcium carbonate or sevelamer); phosphate additives in processed food are a major hidden source; specialist renal dietitian essential for paediatric CKD.
Stone prevention - high fluids (dilute urine) + NORMAL calcium (low calcium INCREASES risk) + low sodium + potassium citrate; thiazide diuretics for refractory hypercalciuria; dietary oxalate restriction if hyperoxaluric; metabolic evaluation in ALL children with stones.
Anti-GBM antibodies + linear IgG on biopsy = Goodpasture disease - rapidly progressive; treat with plasma exchange + steroids + cyclophosphamide; Alport patients post-transplant can develop anti-GBM disease against normal collagen IV; early treatment is critical.
Nephrotic syndrome = hypercoagulable state from AT-III loss + increased clotting factors - risk of DVT, renal vein thrombosis, cerebral venous sinus thrombosis, and PE; treat with anticoagulation and induce remission; prevent dehydration.
Ureteric reimplantation for high-grade VUR = 95-98% success rate - Cohen cross-trigonal technique is most common; endoscopic Deflux injection is less invasive (70-80% success); surgery indicated for breakthrough UTIs, progressive scarring, or persistent high-grade reflux.
HSP nephritis and IgA nephropathy = same spectrum (mesangial IgA deposition) - HSP is systemic, IgA nephropathy is renal-limited; 30-50% of HSP children get renal involvement; most mild and self-limiting, but 1-5% → ESRD; monitor urinalysis for 6-12 months after HSP.
Steroid response = best clinical discriminator between MCD and FSGS - steroid-sensitive = likely MCD (95%); steroid-resistant = likely FSGS (biopsy needed); FSGS has worse prognosis (50% → ESRD) and 30-40% post-transplant recurrence rate.
Bag urine = screening only (63-88% false-positive rate) - negative is reliable to rule out UTI, but positive MUST be confirmed with clean-catch, SPA, or catheter specimen; clean-catch is gold standard; cotton wool in nappy is unreliable.
MMF is TERATOGENIC - mandatory contraception, switch to azathioprine ≥6 weeks before planned conception; characteristic malformations include microtia and cleft lip; 45-49% miscarriage rate; pre-conception counselling essential for all adolescent girls on immunosuppression.
Distal (glanular/subcoronal) hypospadias is most common (70%) - DO NOT CIRCUMCISE (foreskin needed for repair); surgery at 6-18 months; proximal hypospadias + bilateral undescended testes = investigate for DSD urgently.
Nephrotic-range proteinuria = uPCR >200 mg/mmol - spot urine uPCR is preferred over 24-hour collections in children; use first-morning sample; parents can monitor dipstick at home; trace proteinuria on dipstick is normal in concentrated urine.
Testicular torsion = surgical emergency within 6 hours - high-riding testis + absent cremasteric reflex; >90% salvage if explored <6 hours, <10% after 24 hours; DO NOT delay for imaging if clinically suspected; fix BOTH testes at surgery.
Impalpable testis = EUA + laparoscopy (NOT ultrasound, which misses 55% of intra-abdominal testes); laparoscopy diagnoses AND treats; blind-ending vessels = vanishing testis (no surgery needed); high testes may need staged Fowler-Stephens procedure.
No remission after 4 weeks of prednisolone 60 mg/m²/day = SRNS - requires biopsy (usually FSGS) + calcineurin inhibitors first-line; genetic testing for podocyte mutations (30% of SRNS); ~50% progress to ESRD within 10 years.
Severe hypertension with papilloedema + small scarred kidneys + raised creatinine = CKD with hypertensive emergency - reduce BP gradually (max 25% in first 8 hours); reflux nephropathy is a leading cause of paediatric CKD; renal causes account for 60-80% of secondary hypertension in children.
Haematuria + sensorineural hearing loss + family history of renal failure = Alport syndrome - type IV collagen mutation; X-linked most common (severe in males); basket-weave GBM on EM; anterior lenticonus is pathognomonic; ACE inhibitors delay progression.
Valve bladder syndrome = persistent bladder dysfunction after PUV ablation - CIC is the cornerstone of management; anticholinergics for overactivity; antibiotic prophylaxis; bladder augmentation (ileocystoplasty) for severe cases; protects upper tracts and renal function.
HUS = MAHA + thrombocytopenia + AKI in a child with bloody diarrhoea - most common cause of paediatric AKI (per UK Kidney Association STEC-HUS guidance); do NOT give antibiotics for STEC (increases toxin release); avoid platelet transfusion; 95% recover renal function.
Unilateral MCDK - always investigate the CONTRALATERAL kidney (MCUG for VUR in 15-28%); it's the child's only functioning kidney; counsel about contact sports avoidance and lifelong monitoring; MCDK involutes naturally over years.
CKD impairs renal 1-alpha-hydroxylation → cannot activate vitamin D → need alfacalcidol (1α-OH) or calcitriol (1,25-(OH)2) to suppress PTH; also give cholecalciferol to maintain 25-OH-D >50 nmol/L; monitor calcium closely (hypercalcaemia risk).
Paediatric SLE with proteinuria = likely lupus nephritis - renal biopsy essential for ISN/RPS classification; Class IV (diffuse proliferative) is most common and severe; low C3/C4 and high anti-dsDNA indicate active disease; MMF is increasingly preferred over cyclophosphamide for induction.
Primary hyperoxaluria type 1 = AGXT liver enzyme deficiency → combined liver-kidney transplant is definitive; liver corrects the defect, kidney replaces damaged organs; pyridoxine trial first (30% responsive); lumasiran (RNA interference) is a promising new therapy.
Keyhole sign on ultrasound = posterior urethral valves - exclusively male; immediate catheterisation to relieve obstruction, then endoscopic valve ablation; 30% develop CKD despite treatment; severity depends on degree of renal dysplasia.
Low-grade VUR (I-III) resolves spontaneously in ~80% by age 5-8 - higher grades have lower resolution rates; bilateral, high-grade, and scarring predict persistence; antibiotic prophylaxis vs observation is debated for low-grade VUR.
Calcium stones are most common (70-80%) in paediatric urolithiasis - metabolic evaluation is mandatory (found in 40-50%); check calcium:creatinine ratio, cystine screen, and RTA screen; stones <5 mm may pass spontaneously; always analyse passed stones.
PUV prognosis - nadir creatinine <60 µmol/L at day 5-7 is favourable, but 30% still develop CKD; valve bladder syndrome causes ongoing damage; lifelong nephrology + urology follow-up needed; bladder dysfunction management (CIC, anticholinergics) is crucial.
Renal scarring → hypertension (renin-mediated) + CKD - monitor BP and proteinuria annually; reflux nephropathy causes 5-10% of paediatric ESRD; ACE inhibitors for proteinuria/hypertension are renoprotective; counsel about pregnancy risks.
Antenatal hydronephrosis - postnatal ultrasound at 48h (severe) or 4-6 weeks (moderate), antibiotic prophylaxis, then MAG3/MCUG based on findings; most resolve spontaneously; PUJ obstruction is the most common pathological cause.
Left varicocele = left testicular vein enters left renal vein at 90° (higher pressure); right-sided varicocele is unusual and needs investigation for abdominal pathology; treatment indicated for testicular growth discrepancy >20% or pain.
Unilateral MCDK = non-functioning, involutes over time - manage conservatively with ultrasound surveillance; check contralateral kidney for VUR/anomalies; nephrectomy only for complications; bilateral MCDK is incompatible with life.
Infants under 3 months with a suspected UTI need immediate specialist referral and parenteral antibiotics (NICE NG224, replacing CG54); all infants under 6 months get an ultrasound after a first UTI, and clean-catch is the preferred urine collection method.
Nephrotic syndrome = proteinuria + hypoalbuminaemia + oedema; 80% is minimal change disease in children; periorbital oedema in a pre-school child with frothy urine = think nephrotic syndrome; treat with prednisolone 60 mg/m²/day.
First uncomplicated UTI aged 6m-3y = ultrasound within 6 weeks only; no MCUG or DMSA unless atypical or recurrent; over 3 years with first uncomplicated UTI = no imaging; under 6 months = more extensive imaging.
UTI prophylaxis = trimethoprim 2 mg/kg nocte OR nitrofurantoin 1 mg/kg nocte - single bedtime dose achieves high urinary concentration overnight; avoid nitrofurantoin in <3 months and G6PD deficiency; avoid trimethoprim in <6 weeks.
Bilateral enlarged cystic kidneys + family history = ADPKD - PKD1 (85%, severe) or PKD2 (15%, milder); autosomal dominant; screen for hypertension in childhood; monitor for intracranial aneurysms in adulthood; tolvaptan for rapidly progressive adult disease.
Cola-coloured urine + hypertension + oedema 1-3 weeks after strep throat + low C3 = PSGN - supportive management; >95% children recover completely; if C3 does not normalise by 8 weeks, consider alternative diagnoses.
SBP in nephrotic syndrome = Streptococcus pneumoniae most commonly - urinary immunoglobulin and complement loss cause immunodeficiency; ensure pneumococcal vaccination; give VZIG for varicella exposure during immunosuppression.
Isolated microscopic haematuria + normal function + no proteinuria + family history of benign haematuria = thin basement membrane disease - most common cause of persistent isolated haematuria; heterozygous COL4A3/4 mutations; excellent prognosis; distinguish from Alport by absence of hearing loss and progressive renal failure.
Physiological phimosis is NORMAL in young boys - 90% retractile by age 3; NEVER forcefully retract (causes paraphimosis); pathological phimosis shows white scarring (BXO) - treat with topical betamethasone first (80% success), then preputioplasty or circumcision if failed.
Newborn boy + palpable bladder + poor stream + bilateral hydronephrosis = PUV until proven otherwise - urgent catheterisation + MCUG + IV antibiotics; nadir creatinine at day 5-7 predicts long-term renal outcome; endoscopic valve ablation is definitive treatment.
Dialysis in HUS for refractory hyperkalaemia, fluid overload, severe acidosis, or symptomatic uraemia - 50-70% of HUS children need dialysis; peritoneal dialysis preferred in young children; 95% recover renal function within weeks.
Bilateral grade V VUR with breakthrough infections = bilateral ureteric reimplantation (95-98% success); preserve functioning kidneys; Deflux endoscopic injection has lower success for high-grade (50-60%); circumcision reduces UTI risk in boys with VUR.
Nephrotic syndrome diet - no added salt (reduces oedema), normal protein (high protein doesn't help), adequate fluids unless severely oedematous; calcium and vitamin D supplementation during steroid courses; hyperlipidaemia resolves with remission.
ARVC patients MUST avoid competitive and intense endurance exercise - exercise accelerates fibrofatty replacement and arrhythmia risk; this applies to both patients and at-risk gene carriers; ICD for high-risk patients; ARVC is a leading cause of athletic sudden death.
Hyperkalaemia K+ >7 mmol/L = cardiac emergency - give IV calcium gluconate to protect the heart, then shift potassium with salbutamol/insulin-glucose; salt-wasting CAH causes adrenal crisis with life-threatening hyperkalaemia; emergency hydrocortisone is essential.
Wide complex tachycardia + AV dissociation = VT - cardiovert if unstable (1-2 J/kg synchronised); IV amiodarone if stable; NEVER give verapamil; defibrillate if pulseless; investigate for underlying cause.
MVP in children is usually benign - mid-systolic click ± late systolic murmur; no treatment or activity restriction for most; periodic echo follow-up; surgery only for severe MR; endocarditis prophylaxis not recommended by NICE.
NICE does not routinely recommend antibiotic prophylaxis for dental procedures in CHD patients - good oral hygiene is the priority; note this differs from AHA/ESC guidelines which still recommend prophylaxis for high-risk patients.
ARVC = RV fibrofatty replacement + epsilon waves + ventricular arrhythmias - desmosomal gene mutations; important cause of SCD in athletes; exercise worsens disease progression; ICD for high-risk patients; diagnose using revised Task Force Criteria.
Subcutaneous nodules in ARF = firm, painless, over bony prominences - rarest major Jones criterion (<5%); almost always accompanied by severe carditis; distinguish from Osler nodes (painful, fingers, endocarditis) and Janeway lesions (painless, palms, endocarditis).
LQT2 (KCNH2/HERG) = IKr channel - triggered by sudden auditory stimuli and emotional stress; bifid T waves on ECG; beta-blockers + maintain potassium >4.0 mmol/L; LQT1 = exercise, LQT2 = auditory/emotional, LQT3 = rest/sleep.
HCM is the most common cause of sudden cardiac death in young athletes - asymmetric septal hypertrophy with SAM on echo is diagnostic; family screening and risk stratification for ICD placement are essential.
Tricuspid atresia (and other single-ventricle lesions) follow the BT shunt → Glenn → Fontan pathway - the Fontan achieves passive pulmonary blood flow without a subpulmonary ventricle, requiring low PVR and lifelong cardiac follow-up.
HCM is the most common cause of sudden cardiac death in young athletes - autosomal dominant; screen first-degree relatives; ICD for high-risk patients; restrict competitive sport if high-risk features present.
Abnormal BP response to exercise in HCM = SCD risk factor - contributes to risk stratification along with family history, syncope, NSVT, severe LVH, and fibrosis; exercise testing is an important component of HCM evaluation.
Fulminant myocarditis with refractory cardiogenic shock → VA-ECMO - 60-80% survival in paediatric myocarditis (better than other ECMO indications); provides bridge to recovery, VAD, or transplant; monitor for myocardial recovery daily.
Large VSDs causing refractory heart failure require surgical closure within 6 months - delay risks irreversible pulmonary vascular disease; surgical mortality is <1% with excellent long-term outcomes.
Diastolic murmurs are ALWAYS pathological - also investigate any murmur with an associated thrill, fixed splitting of S2, symptoms, or abnormal pulses; innocent murmurs are systolic, soft, vary with position, and have a vibratory or musical quality.
Severe PR after ToF repair = most common late complication - progressive RV dilatation requires pulmonary valve replacement; cardiac MRI is the gold standard for RV assessment; transcatheter valve replacement is an increasingly used alternative to surgery; lifelong follow-up is essential.
Syncope with a prolonged QTc (>460 ms) is long QT syndrome until proven otherwise - this is a potentially fatal channelopathy requiring beta-blockers, drug avoidance, and family screening.
22q11.2 deletion = conotruncal heart defects (interrupted aortic arch, truncus arteriosus, ToF) + CATCH 22 features - always check calcium and immune function, and test for the deletion when these cardiac defects are identified.
A failed hyperoxia test (PaO2 <15 kPa on 100% O2) indicates cyanotic CHD with fixed shunting - start prostaglandin immediately and arrange urgent echocardiography; respiratory disease typically shows at least partial PaO2 improvement.
CPVT = exercise-induced bidirectional VT + normal resting ECG + structurally normal heart - RYR2 mutation most common; nadolol at maximum dose, flecainide if needed, avoid competitive sports (ESC 2022 ventricular arrhythmia/SCD guideline; BHF inherited cardiac conditions pathway).
Large VSD causes heart failure through left-to-right shunting and pulmonary overcirculation - symptoms worsen as PVR falls; manage with diuretics, ACE inhibitors, and high-calorie feeds; surgical repair before 6 months prevents Eisenmenger syndrome.
Erythema marginatum = evanescent ring-shaped rash on trunk with clear centres, never on face - major Jones criterion for ARF; occurs in only 2-5% of cases; associated with severe carditis; accentuated by warmth; non-pruritic.
Infant SVT vagal manoeuvre = ice to face (diving reflex) for 15-30 seconds - never use eyeball pressure; if this fails, IV adenosine; synchronised cardioversion if unstable; many infants outgrow SVT by 12 months.
Qp:Qs >1.5:1 indicates a significant left-to-right shunt warranting surgical closure - this ratio quantifies the degree of pulmonary overcirculation and is a key determinant of the need for intervention.
NICE does NOT recommend routine antibiotic prophylaxis for dental procedures in CHD patients - excellent oral hygiene is the primary prevention; this differs from AHA/ESC guidelines; some UK cardiologists still offer prophylaxis for highest-risk patients; educate patients about endocarditis symptoms.
PDA produces a continuous 'machinery' murmur below the left clavicle with bounding pulses - prostaglandin keeps it open (for duct-dependent lesions), while ibuprofen/surgery closes it; transcatheter closure is now first-line for most persistent PDAs.
PGE1 causes apnoea in 12-20% of infants - continuous monitoring and immediately available intubation equipment are mandatory; some centres electively intubate before transport to mitigate this risk.
Brugada syndrome = coved ST elevation V1-V3 + syncope/SCD - autosomal dominant, SCN5A mutations; ICD for symptomatic patients; treat fever aggressively; avoid Brugada-provoking drugs; family screening essential.
Pulmonary regurgitation is the most common long-term problem after ToF repair - MRI-guided timing of pulmonary valve replacement (surgical or transcatheter) prevents irreversible RV dysfunction; lifelong follow-up is essential.
AF = irregularly irregular + absent P waves + fibrillatory baseline - rare in children, always investigate for underlying cause; DANGER in WPW - avoid AV nodal blockers; cardiovert if unstable; anticoagulate if >48 hours.
Duct-dependent pulmonary = critical PS, PA, tricuspid atresia, severe ToF; Duct-dependent systemic = critical coarctation, HLHS, critical AS, IAA - prostaglandin maintains the duct open for both groups but the physiology and direction of ductal flow differ.
Eisenmenger syndrome = irreversible reversal of shunt due to fixed elevated PVR - surgical closure is CONTRAINDICATED; manage with pulmonary vasodilators; prevention through early surgical repair is essential; heart-lung transplant is the only definitive treatment.
Brugada syndrome - ICD is the only proven protection against SCD; beta-blockers are NOT effective; treat fever aggressively (can trigger arrhythmias); avoid flecainide and other sodium channel blockers; check www.brugadadrugs.org for drug safety.
HLHS palliation follows a three-stage pathway: Norwood → Glenn → Fontan - the Norwood is the most complex and high-risk stage, performed in the first week, and the Fontan achieves the final single-ventricle circulation at 3-5 years.
PDA = continuous machinery murmur below left clavicle - distinguish from innocent venous hum (abolished by lying flat); close significant PDAs transcatheter or surgically; pharmacological closure with ibuprofen/indomethacin in premature infants.
Fever + new murmur + splinter haemorrhages + positive blood cultures in a child with CHD = infective endocarditis - diagnose using modified Duke criteria and treat with prolonged IV antibiotics (4-6 weeks).
Fixed splitting of S2 is the hallmark of ASD - the ejection systolic murmur is due to increased pulmonary flow, not the defect itself; transcatheter device closure is the preferred method for secundum ASDs.
Streptococcal native valve IE = 4 weeks IV penicillin/amoxicillin + 2 weeks gentamicin (BSAC 2012, ESC 2023) - prolonged IV therapy is essential to sterilise the vegetation; monitor gentamicin levels; surgery for heart failure, persistent infection, large vegetation, abscess, or fungal aetiology.
QTc >470 ms (males) or >480 ms (females) with syncope = LQTS - nadolol is preferred beta-blocker; avoid QT-prolonging drugs; LQT1 triggers are exercise (especially swimming); screen first-degree relatives; ICD for high-risk patients.
Pericarditis = chest pain worse lying flat + friction rub + widespread ST elevation with PR depression - most commonly viral in children; treat with NSAIDs + colchicine; avoid steroids first-line; watch for tamponade.
Still's murmur = vibratory systolic murmur, varies with position, no abnormal findings - the most common innocent murmur; echo is NOT needed if features are clearly innocent; diastolic murmurs and pansystolic murmurs are NEVER innocent.
AVSD is the most common cardiac defect in Down syndrome - approximately 70% of complete AVSDs occur in children with trisomy 21; early surgical repair (3-6 months) is essential to prevent irreversible pulmonary hypertension.
LQT1 (KCNQ1) = exercise/swimming trigger - most common LQTS subtype; normal resting ECG does NOT exclude the diagnosis; beta-blockers are mandatory; swimming alone is dangerous; ICD for high-risk patients.
Secondary ARF prophylaxis with penicillin prevents recurrence - IM benzathine penicillin every 3-4 weeks is preferred; duration depends on carditis severity; each recurrence risks cumulative valve damage.
Right-to-left atrial shunting in Ebstein = elevated RA pressure from severe TR driving deoxygenated blood across ASD/PFO to LA - acts as a pop-off preventing RV failure but causes cyanosis; degree of cyanosis reflects severity of TR and RV dysfunction.
ECG changes mimicking MI in an infant suggests ALCAPA - the left coronary arises from the PA, causing myocardial ischaemia as PVR falls; urgent surgical reimplantation is curative, and LV function often recovers remarkably.
Anti-Ro/La antibodies cause congenital heart block in neonatal lupus - irreversible conduction damage; 2% risk per pregnancy, 15-20% recurrence; serial fetal echo from 16 weeks; permanent pacemaker may be needed; other neonatal lupus features are transient.
The 'snowman' sign on CXR is characteristic of supracardiac TAPVD - obstructed TAPVD (typically infracardiac) is a surgical emergency presenting with severe cyanosis and pulmonary oedema in the first days of life.
ACE inhibitors in VSD heart failure reduce afterload, promoting forward systemic flow and reducing left-to-right shunting - they complement diuretics (volume reduction) and high-calorie feeds (nutritional support) while awaiting surgical repair.
Atrial flutter = sawtooth F waves at ~300 bpm with a regular ventricular response (commonly 2:1 giving a rate of ~150) - uncommon in children without structural heart disease; consider post-surgical CHD; synchronised cardioversion for unstable patients.
Post-TAPVD repair PH crises triggered by hypoxia, acidosis, pain, agitation, suctioning, hypothermia - prevent with sedation, gentle handling, normoxia; treat with iNO, sildenafil, milrinone; highest risk in first 24-48 hours; maintain mild alkalosis.
An inspiratory-diminishing ejection click is pathognomonic for valvar pulmonary stenosis - it distinguishes from aortic stenosis clicks (which don't vary with respiration); balloon valvuloplasty is the treatment for significant PS.
Secondary prophylaxis = IM benzathine penicillin every 3-4 weeks - duration depends on severity; lifelong if persistent valve disease; adherence is the key prognostic factor; oral penicillin V is an alternative but less reliable.
Pre-ductal SpO2 higher than post-ductal by >3% indicates right-to-left ductal shunting - think duct-dependent systemic circulation (coarctation, critical aortic stenosis, IAA) and start prostaglandin immediately.
First-degree heart block = prolonged PR with all P waves conducted - usually benign; investigate if symptomatic; may be normal in athletes (vagal tone); minor Jones criterion in ARF; normal PR varies by age.
Turner syndrome = bicuspid aortic valve (~15-30%) and coarctation (~10-15%) - lifelong cardiac surveillance including echocardiography and aortic imaging is essential, with heightened vigilance during pregnancy.
SVT = regular narrow-complex tachycardia >220 bpm in infants or >180 bpm in children - vagal manoeuvres first, then IV adenosine; synchronised cardioversion if unstable; catheter ablation is curative for recurrent SVT.
Four-limb BP measurement is essential in the newborn examination - weak femoral pulses with >20 mmHg upper-lower limb systolic gradient is coarctation until proven otherwise; start prostaglandin if critical.
Echocardiography is essential in Kawasaki disease to detect coronary artery aneurysms - IVIG (2 g/kg) and aspirin within 10 days of illness onset reduces coronary complications from 25% to 4%.
Cyanosis unresponsive to oxygen in a newborn with 'egg-on-a-string' CXR is TGA - start prostaglandin immediately, arrange balloon septostomy for mixing, and plan arterial switch operation within 2 weeks.
Eisenmenger syndrome = irreversible pulmonary vascular disease - DO NOT close the defect (it acts as a pressure relief valve); manage with pulmonary vasodilators and consider heart-lung transplantation; prevention through timely surgical repair of large defects is key.
Supplemental oxygen can be harmful in cardiac mixing lesions - it reduces PVR, worsening pulmonary overcirculation; always discuss oxygen saturation targets with the cardiology team for each specific cardiac anatomy.
Severe symptomatic MR with LV dilatation = surgical intervention - repair preferred over replacement in children; operate before irreversible LV dysfunction; mechanical valves need lifelong warfarin; continue secondary prophylaxis after surgery.
Spironolactone in heart failure = aldosterone antagonism providing anti-fibrotic, anti-remodelling, potassium-sparing, and mild diuretic effects - monitor potassium (hyperkalaemia risk with ACE inhibitor); paediatric heart failure treatment extrapolates from adult evidence.
Culture-negative endocarditis - consider prior antibiotics (most common cause), HACEK organisms (especially Kingella in children), Bartonella, Coxiella, and fungi; request specific serology, prolonged incubation, and PCR; molecular diagnostics are increasingly valuable.
Acyanotic CHD with L→R shunt (VSD, ASD, PDA) causes pulmonary overcirculation and heart failure, while cyanotic CHD involves right-to-left shunting causing systemic desaturation - this classification guides clinical assessment and management.
Complete AVSD should be repaired at 3-6 months of age - earlier in Down syndrome due to accelerated pulmonary vascular disease; the most common long-term complication is left AV valve regurgitation.
Complete heart block = P waves and QRS complexes with no relationship (AV dissociation) - in neonates, consider maternal anti-Ro/La antibodies; pacemaker needed if HR <55 bpm, symptoms, or ventricular dysfunction; after cardiac surgery, acquired CHB may require permanent pacing.
In a large VSD, a quietening murmur with a loud single S2 indicates rising PVR - this is an ominous sign suggesting progression towards Eisenmenger syndrome, which makes the defect inoperable.
Exclude structural heart disease with echo before flecainide - contraindicated with impaired ventricular function; give IV flecainide slowly with continuous ECG monitoring; stop if QRS prolongs >50%; highly effective for SVT in structurally normal hearts.
Propranolol in ToF works by relaxing infundibular spasm, reducing dynamic RVOT obstruction - it is a bridge to surgical repair, not definitive treatment; complete repair (VSD closure + RVOT reconstruction) is performed at 4-6 months.
Mantoux ≥15 mm is strongly positive for TB infection - combined with symptoms it suggests active TB requiring urgent investigation; interpretation thresholds vary with immune status and clinical context.
Cryptosporidium shows small acid-fast oocysts on modified ZN stain - in HIV-positive children, immune reconstitution with ART is the most important treatment, as the organism causes chronic, severe diarrhoea when CD4 counts are low.
Normal children have 6-8 URTIs per year - use the warning signs of primary immunodeficiency to distinguish normal infection frequency from pathological recurrence; reassure parents when investigations are normal.
Adrenaline auto-injector doses are 150 mcg (<6 years), 300 mcg (6-12 years), and 500 mcg (>12 years) - always prescribe in pairs; inject into the anterolateral thigh; call emergency services after use.
Mild localised allergic reactions (oral tingling, lip swelling) are managed with antihistamine and observation - always review the management plan after any reaction and ensure auto-injectors are in date and accessible.
Paediatric pulmonary TB is treated with 2 months of RIPE (rifampicin, isoniazid, pyrazinamide, ethambutol) followed by 4 months of RI - pyridoxine should be co-prescribed, and microbiological confirmation is more difficult in children due to paucibacillary disease.
High-risk HIV-exposed neonates receive triple ART prophylaxis for 4 weeks - low-risk infants receive zidovudine monotherapy; test with HIV DNA PCR at birth, 6 weeks, and 12 weeks.
HIV transition requires structured preparation including disclosure, adherence support, sexual health education, and self-management skills - it should begin years before transfer; adherence during adolescence is the single greatest challenge.
Systemic JIA presents with quotidian spiking fever, salmon-coloured rash, and very high ferritin - MAS is a life-threatening complication, and IL-1 (anakinra) and IL-6 (tocilizumab) blockade are the mainstay of treatment.
Lepromatous leprosy shows high bacterial load with diffuse skin infiltration, while tuberculoid leprosy has few bacilli and well-defined patches - WHO multibacillary treatment requires rifampicin, dapsone, and clofazimine for 12 months.
Cutaneous anthrax presents as a painless black eschar with oedema after animal contact - it is the mildest form of anthrax with excellent prognosis when treated with ciprofloxacin or doxycycline, but is a notifiable disease.
Leptospirosis presents with fever, conjunctival suffusion, and hepatorenal dysfunction after freshwater exposure - conjunctival suffusion is a key distinguishing feature, and IV penicillin or ceftriaxone is used for severe (Weil) disease.
Household contacts of immunocompromised individuals should receive routine vaccinations including MMR to provide cocooning protection - specific precautions for rotavirus (stool shedding) and varicella vaccine (avoid contact if vesicular rash develops).
XLA presents with absent B cells, very low immunoglobulins, and recurrent bacterial infections from 3-6 months - it is X-linked (BTK gene) and treated with lifelong immunoglobulin replacement.
Wiskott-Aldrich syndrome presents with eczema, micro-thrombocytopenia (small platelets), and immunodeficiency - it is X-linked (WAS gene); HSCT is curative; small platelet size is the key distinguishing feature.
Neonatal herpes requires high-dose IV aciclovir (20 mg/kg TDS for 14-21 days) - mortality is high without treatment; caesarean delivery should be offered to women with active genital herpes lesions at delivery.
Oral immunotherapy gradually desensitises by giving increasing allergen doses - Palforzia is licensed for peanut OIT in children aged 4-17; it does not cure allergy but raises the reaction threshold, protecting against accidental exposure.
C3 deficiency = recurrent encapsulated-organism infection from failed opsonisation; C3 is central to all complement pathways, so both CH50 and AH50 fall (not just one); immunise per the Green Book, give antibiotic prophylaxis, and watch for immune-complex disease.
Terminal complement (C5-C9) deficiency predisposes to recurrent Neisseria infections - screen with CH50/CH100; vaccinate against all meningococcal serogroups and provide standby antibiotics and a medical alert card.
After IM adrenaline for anaphylaxis, position appropriately, give O₂, establish IV access, and prepare for IV fluids - observe for at least 6-12 hours; NEVER give IV adrenaline as a bolus.
Immunosuppressed children exposed to varicella need VZIG urgently - check VZV immunity before starting steroids and vaccinate if non-immune and time permits; IV aciclovir is needed if varicella develops despite prophylaxis.
Salmonella is the most common cause of osteomyelitis in sickle cell disease due to gut mucosal ischaemia and functional asplenia - empirical antibiotics should cover both Salmonella and S. aureus until cultures are available.
Neurocysticercosis is the most common cause of acquired epilepsy in endemic areas - treatment requires albendazole with corticosteroids to prevent paradoxical worsening, and anti-epileptic drugs for seizure control.
Egg-allergic children CAN receive influenza vaccine - give in primary care for non-anaphylactic egg allergy; vaccinate in a clinical setting with resuscitation for anaphylactic egg allergy; modern vaccines have negligible egg protein.
Paragonimiasis presents with chronic cough, haemoptysis, and cavitating lung lesions mimicking TB - a history of freshwater crab consumption is the key epidemiological clue, and praziquantel is curative.
Tuberculoma and neurocysticercosis are the two most common causes of ring-enhancing brain lesions in endemic areas - the scolex on imaging is pathognomonic for NCC, while a 'target sign' and lipid peak on MRS favour tuberculoma.
DTTP ≥2 hours (line culture positive before peripheral) strongly supports CLABSI - central line bundles focusing on insertion technique, maintenance, and daily line necessity review are the most effective preventive strategies.
De-escalation to the narrowest effective antibiotic once culture sensitivities are known is a fundamental stewardship principle - 'Start Smart, Then Focus' at 48-72 hours when microbiology results guide definitive therapy.
Serum IL-18 is markedly elevated in systemic JIA and MAS - glycosylated ferritin fraction <20% also suggests systemic JIA/MAS rather than infection, helping guide diagnosis in challenging PUO cases.
The central line bundle includes hand hygiene, chlorhexidine prep, maximal barriers, optimal site, and daily line necessity review - prophylactic antibiotics through the line are NOT a standard component and may promote resistance.
Always check total IgA when screening for coeliac disease - selective IgA deficiency is 10-15× more common in coeliac disease and causes false-negative IgA-based coeliac serology; use IgG-based tests if IgA is deficient.
PUO investigation follows a tiered approach - second-line tests include echocardiography, abdominal imaging, and autoimmune screen, targeting the three main categories: infection, autoimmune/inflammatory, and malignancy.
Infectious mononucleosis presents with sore throat, lymphadenopathy, and fatigue - the maculopapular rash after amoxicillin is classic for EBV; avoid contact sports for 4 weeks due to splenic rupture risk.
Secondary bacterial skin infection (S. aureus or GAS) is the commonest complication of chickenpox - treat with flucloxacillin; be vigilant for necrotising fasciitis, which requires urgent surgical and IV antibiotic management.
Septic arthritis must be urgently excluded in any febrile child with an acutely painful joint - use Kocher's criteria, perform urgent joint aspiration, and arrange surgical washout plus IV antibiotics; delay risks permanent joint destruction.
Vaccines must be stored at +2°C to +8°C - freezing is as damaging as overheating for many vaccines; daily temperature monitoring and documented cold chain management are mandatory requirements.
Single-dose oral ciprofloxacin is first-line chemoprophylaxis for meningococcal contacts - alternatives include rifampicin for 2 days or IM ceftriaxone; the index case also needs eradication therapy before discharge.
RSV bronchiolitis is managed supportively - no bronchodilators, steroids, or antibiotics are routinely indicated; oxygen for SpO2 <92% and fluids for poor intake are the mainstays of treatment.
Palivizumab is a monthly IM injection of anti-RSV monoclonal antibody for high-risk infants during the RSV season - it reduces RSV hospitalisations by approximately 50% in eligible groups.
Enteroviral infections remain a specific risk in XLA despite immunoglobulin replacement - chronic enteroviral meningoencephalitis is a feared complication; live vaccines (especially OPV) are strictly contraindicated.
X-linked recessive (CYBB/gp91phox) is the most common form of CGD overall, but autosomal recessive forms account for 35% of cases - affected females suggest autosomal recessive inheritance; genetic testing determines the specific mutation.
Most children with non-IgE-mediated CMPA develop tolerance by age 3-5 years - use the milk ladder for structured reintroduction; tolerance to baked milk is a positive prognostic sign for eventual tolerance to fresh milk.
In suspected meningococcal septicaemia, give IV ceftriaxone and fluid boluses immediately - do not delay treatment for any investigation; early antibiotics and aggressive resuscitation save lives.
Ascaris lumbricoides causes Löffler syndrome during pulmonary larval migration - cough, wheeze, eosinophilia, and transient infiltrates in a child from an endemic area should prompt stool microscopy and treatment with albendazole.
Microsporidia are very small (1-2 µm), identified by modified trichrome or calcofluor white staining - they cause persistent diarrhoea in immunocompromised patients, and immune reconstitution is the most important treatment in HIV-positive individuals.
Erythromycin-resistant, clindamycin-sensitive S. aureus requires a D-test - a negative D-test confirms the msrA efflux (MS) phenotype allowing clindamycin use, while a positive D-test indicates inducible MLSB resistance where clindamycin may fail.
Incomplete Kawasaki disease should be considered in any child with prolonged unexplained fever and coronary artery changes, even without classic mucocutaneous features - infants are most at risk and most difficult to diagnose.
IVIG 2 g/kg plus high-dose aspirin within 10 days of fever onset is standard treatment for Kawasaki disease - this reduces coronary aneurysm risk from 25% to <5%, and IVIG-resistant cases require second-line treatment.
Non-blanching purpura with fever and shock is meningococcal septicaemia until proven otherwise - antibiotics must be given within minutes, LP is contraindicated in shock, and no investigation should delay treatment.
Cryptococcal meningitis shows encapsulated yeasts on India ink and positive CrAg - treatment is amphotericin B plus flucytosine induction, followed by fluconazole consolidation and maintenance, with ICP management by serial lumbar puncture.
Empirical antibiotics must be reviewed at 48-72 hours - the five options are Stop, Switch, Change, Continue, or OPAT, and every prescription should have a documented indication, planned duration, and review date.
LTBI in children is treated with 3 months of isoniazid and rifampicin (preferred) or 6 months of isoniazid alone - young children exposed to active TB need urgent assessment as they have the highest risk of rapid progression.
Dengue presents with fever, retro-orbital pain, thrombocytopenia, and leucopenia - secondary infection carries higher risk of severe dengue through antibody-dependent enhancement, and management is supportive with judicious fluid therapy.
Herpes zoster presents with painful dermatomal vesicles from VZV reactivation - in HIV-positive or immunocompromised patients, treat with oral aciclovir for 7 days; multidermatomal involvement suggests significant immunosuppression.
VP shunt infection requires shunt removal plus IV vancomycin - biofilm formation on the shunt surface prevents antibiotic penetration, making treatment through an infected shunt ineffective.
Chronic spontaneous urticaria lasts ≥6 weeks without identifiable trigger - step up antihistamines to 4× standard dose before adding omalizumab; extensive allergy testing is not recommended as it rarely identifies a cause.
Kawasaki disease requires urgent echocardiography to assess for coronary artery aneurysms - IV immunoglobulin within 10 days of fever onset reduces aneurysm risk from 25% to <5%.
Dental antibiotic prophylaxis is only for highest-risk cardiac conditions (prosthetic valves, previous endocarditis, cyanotic CHD) - amoxicillin 50 mg/kg single dose 1 hour before the procedure is the standard regimen.
Complicated pneumonia with parapneumonic effusion requires IV antibiotics and assessment for drainage - chest ultrasound guides management, and empyema may require drain with fibrinolytics or VATS.
Acute osteomyelitis presents with fever, localised bone pain, and elevated inflammatory markers - X-ray is often normal initially; MRI is the best early imaging; Staphylococcus aureus is the most common causative organism.
Lymph node TB is treated with standard 6-month anti-TB therapy (2RIPE/4RI) - paradoxical enlargement during treatment does not indicate failure, and NTM lymphadenitis is an important differential in young children.
Surgical antibiotic prophylaxis should be a single dose at induction - prolonged courses beyond the operative period increase resistance and C. difficile risk without reducing surgical site infections.
Fluid-refractory septic shock (persistent after 40 mL/kg) requires vasoactive support and PICU involvement - peripheral adrenaline can be given while central access is obtained, and hydrocortisone should be considered for catecholamine-resistant shock.
Cutaneous leishmaniasis presents as a painless ulcer with amastigotes in macrophages - treatment depends on species and severity, with liposomal amphotericin B as first-line for visceral disease.
HLH presents with fever, cytopenias, hyperferritinaemia, and haemophagocytosis - 5 of 8 HLH-2004 criteria confirm diagnosis, and primary HLH requires HSCT for cure.
DiGeorge syndrome (22q11.2 deletion) causes T cell deficiency from thymic hypoplasia - remember the mnemonic CATCH22: Cardiac, Abnormal facies, Thymic hypoplasia, Cleft palate, Hypocalcaemia.
Visceral leishmaniasis presents with fever, massive splenomegaly, and pancytopenia - diagnose by finding Leishmania amastigotes in bone marrow; treat with liposomal amphotericin B; endemic in Mediterranean, Indian subcontinent, and East Africa.
MMR first dose is at 12 months, second dose at 3 years 4 months - 95% uptake is needed for measles herd immunity; the vaccine is live and contraindicated in immunocompromised patients and pregnancy.
Mast cell tryptase is the key blood test during anaphylaxis - take samples ASAP, at 1-2 hours, and at baseline (>24 hours); an elevated acute level compared to baseline supports the diagnosis.
XLA presents in boys after 6 months with recurrent bacterial infections, absent B-cells, and profoundly low immunoglobulins - lifelong immunoglobulin replacement therapy is essential, and live vaccines are contraindicated.
Malaria treatment monitoring requires daily blood films until negative, with repeat testing at day 28 - early recognition of treatment failure allows timely switch to alternative therapy, and delayed haemolytic anaemia should be monitored after artesunate treatment.
DIPG presents with the classic triad of cranial neuropathies, long tract signs, and ataxia - it carries the worst prognosis of any childhood brain tumour with median survival under 1 year.
Two doses of benzodiazepine failing → second-line IV anti-epileptic per NICE NG217/APLS - phenytoin 20 mg/kg over 20 min OR levetiracetam 40-60 mg/kg (EcLiPSE/ConSEPT non-inferior); never give a third benzodiazepine.
Per NICE NG217, ethosuximide is first-line for absence-only epilepsy; if GTCs co-exist, sodium valproate is preferred (with MHRA Pregnancy Prevention Programme in any female patient); never use carbamazepine, oxcarbazepine, or gabapentin in absence epilepsy as they worsen seizures.
Opsoclonus-myoclonus ('dancing eyes, dancing feet') in a child with an abdominal mass strongly suggests neuroblastoma - while tumour prognosis is good, long-term neurocognitive outcomes are often poor due to autoimmune-mediated cerebellar damage.
Anti-NMDA receptor encephalitis requires investigation for ovarian teratoma - tumour removal combined with immunotherapy offers the best outcomes, and the condition should be considered in any child with subacute psychiatric symptoms progressing to movement disorder and seizures.
Pott's puffy tumour = forehead swelling from subperiosteal abscess of the frontal bone + frontal sinusitis + osteomyelitis - NOT a tumour; risk of intracranial extension; needs IV antibiotics + surgical drainage; MRI to exclude intracranial complications.
Neonatal hypotonia + respiratory failure + mother with myotonic dystrophy = congenital myotonic dystrophy - inherited from mother due to anticipation; massive CTG repeat expansion; bilateral facial weakness with tented lip; 25-30% neonatal mortality.
Methylphenidate can exacerbate tics but does not cause them - manage by dose reduction first, then consider switching to atomoxetine or guanfacine if tics persist while maintaining ADHD treatment.
Alternating hemiplegia of childhood presents with recurrent episodes of hemiplegia alternating sides with resolution during sleep - ATP1A3 mutations are the most common cause, and flunarizine may reduce episode frequency.
Progressive neurological deterioration with upper motor neurone signs and white matter abnormalities on MRI suggests leukodystrophy - the key distinguishing feature from cerebral palsy is progression, as CP is by definition non-progressive.
Migraine with aura = visual symptoms (zigzag lines, scotoma) preceding unilateral pulsating headache with nausea/photo/phonophobia - ibuprofen is first-line acute treatment; propranolol for prophylaxis; headache diary essential; aura develops over 5-20 minutes.
Rescue buccal midazolam with a seizure management plan is the key intervention for recurrent febrile seizures - regular AED prophylaxis and antipyretics during febrile illness do not prevent febrile seizures.
Clobazam, lamotrigine, levetiracetam, and oxcarbazepine are the NICE-recommended adjunctive options for focal epilepsy - drug-resistant epilepsy after two adequate drug trials should prompt referral for non-pharmacological options.
Coarse facial features, hepatosplenomegaly, corneal clouding, skeletal dysplasia, and elevated urinary GAGs indicate mucopolysaccharidosis - enzyme replacement therapy and stem cell transplant are available for some subtypes.
X-linked adrenoleukodystrophy presents with progressive neurological decline, parieto-occipital white matter disease, and elevated VLCFAs - early HSCT before significant neurological deterioration offers the best outcome.
Dopa-responsive dystonia presents with childhood-onset dystonia showing diurnal fluctuation and dramatic levodopa response - always trial levodopa in unexplained childhood dystonia, as DRD is treatable and prognosis is excellent.
GBS = ascending flaccid paralysis + areflexia + CSF protein elevation without pleocytosis - post-infectious (Campylobacter most common trigger); treat with IVIG or plasma exchange; monitor respiratory function closely; 85-90% of children make a full recovery.
When no tumour is found in OMS, the aetiology is usually post-infectious autoimmune - repeat tumour surveillance is recommended as occult neuroblastoma may emerge, and immunosuppressive treatment should be initiated regardless of aetiology.
Angelman syndrome presents with absent speech, happy demeanour with frequent laughter, ataxia, microcephaly, and characteristic EEG - it is caused by loss of maternal UBE3A expression on chromosome 15q11-13.
Episodic ataxia type 2 is caused by CACNA1A mutations and presents with recurrent episodes of ataxia and vertigo lasting hours to days - acetazolamide is the first-line treatment and is effective in the majority of patients.
Childhood stroke causes differ from adults - cardiac, arteriopathy, and prothrombotic causes predominate; atherosclerosis is rare; aspirin for secondary prevention; investigate with MRI/MRA, echo, thrombophilia screen, and sickle cell screen.
Asking a child to hyperventilate for 3 minutes can reliably provoke absence seizures at the bedside - this is a simple, free, and highly sensitive test that should be performed as part of the clinical assessment.
Rett syndrome is caused by MECP2 mutations in girls and presents with regression, loss of hand skills, stereotypic hand wringing, breathing abnormalities, and acquired microcephaly - it progresses through four distinct clinical stages.
Friedreich ataxia presents with progressive ataxia, areflexia with upgoing plantars, pes cavus, scoliosis, and hypertrophic cardiomyopathy - GAA repeat expansion in the FXN gene causes frataxin deficiency and mitochondrial dysfunction.
Hip surveillance in cerebral palsy should start at 12-18 months with frequency based on GMFCS level - GMFCS V children have up to 90% risk of hip displacement and need frequent monitoring to enable early intervention.
Sydenham chorea is a major criterion for rheumatic fever - it results from anti-basal ganglia antibodies triggered by streptococcal infection and requires long-term penicillin prophylaxis to prevent cardiac valve damage.
Refractory status epilepticus requires RSI and PICU admission - the APLS algorithm escalates from benzodiazepines to phenytoin/levetiracetam to anaesthetic agents in a structured, time-based approach.
AOA1 is caused by APTX mutations and presents with cerebellar ataxia plus oculomotor apraxia - unlike ataxia-telangiectasia, there are no telangiectasiae or immunodeficiency, but look for hypoalbuminaemia and hypercholesterolaemia as biochemical clues.
JME has an 80-90% relapse rate on AED withdrawal and typically requires lifelong treatment per NICE NG217 - distinguishing it from childhood absence and Rolandic epilepsy, which are usually outgrown. DVLA implications must be discussed before any withdrawal.
Toilet training in ASD requires a visual, structured, gradual approach with positive reinforcement - address sensory barriers, use visual schedules and social stories, and exclude constipation as a contributing factor.
Fever + altered consciousness + focal seizures + temporal lobe MRI changes = HSE until proven otherwise - start IV aciclovir IMMEDIATELY; do not wait for PCR results; CSF HSV PCR is the gold standard; untreated mortality is ~70%.
VP shunt infection = fever + shunt tract signs within 6 months of surgery - coagulase-negative Staphylococcus is most common; the infected shunt MUST be removed (biofilm prevents antibiotic cure); externalise, treat, then reimplant when sterile.
Bilateral vestibular schwannomas are pathognomonic for NF2 - the NF2 gene on chromosome 22 encodes merlin, and management focuses on hearing preservation with options including surgery, radiosurgery, and bevacizumab.
Posterior fossa syndrome presents with mutism, emotional lability, and ataxia 1-5 days after posterior fossa tumour surgery - it affects approximately 25% of children after medulloblastoma resection and involves the dentato-thalamo-cortical pathway.
Acute respiratory failure in DMD → aggressive MI-E + increased NIV + IV antibiotics + monitoring - secretion clearance is critical; use oxygen cautiously (can mask hypoventilation); advance care planning should guide escalation decisions.
Wilson disease presents with hepatic and neuropsychiatric features with Kayser-Fleischer rings - 24-hour urinary copper is elevated, serum caeruloplasmin is low, and lifelong copper chelation is essential.
Propranolol is first-line migraine prophylaxis in children - aim for 50% reduction in frequency; avoid in asthma; trial for 3-6 months; combine with lifestyle measures; headache diary essential; alternatives include amitriptyline and topiramate.
Intrathecal baclofen pump is indicated for severe generalised spasticity (GMFCS IV-V) not controlled by oral medications - baclofen withdrawal is a medical emergency causing hyperthermia and seizures.
Jaundice and dark urine on atomoxetine require immediate drug cessation and urgent LFTs - hepatotoxicity is rare but can be severe; patients should also be monitored for suicidal ideation, particularly early in treatment.
Acetazolamide is first-line for IIH - reduces CSF production; combine with weight management; monitor electrolytes for metabolic acidosis and hypokalaemia; topiramate is an alternative; surgical options for refractory visual loss.
A child with a posterior fossa tumour and obstructive hydrocephalus needs emergency management of raised ICP - bilateral sixth nerve palsies are false localising signs of raised intracranial pressure, and dexamethasone plus CSF diversion are the immediate priorities.
Specific learning difficulties co-occur in 30-50% of children with ADHD - academic underperformance in ADHD may reflect co-existing dyslexia/dyscalculia as much as inattention, requiring both educational and medical intervention.
Risperidone is the evidence-based option for severe irritability and self-injury in ASD - use only when behavioural approaches fail, monitor metabolic parameters closely, and review regularly to attempt dose reduction.
Complex febrile seizure features are duration >15 minutes, focal onset, and recurrence within 24 hours - any one of these features is sufficient for the classification.
Per NICE NG217 and BNF, lamotrigine must be titrated slowly over at least 6-8 weeks to reduce SJS/TEN risk - this is especially critical when co-prescribed with sodium valproate, which inhibits glucuronidation and approximately doubles lamotrigine levels.
Mild thrombocytopenia, elevated ALT, and hyperammonaemia on valproate are dose-related effects - reduce the dose and repeat bloods rather than stopping abruptly, but monitor closely for clinical deterioration.
Appetite suppression and insomnia are common methylphenidate side effects - manage by adjusting timing, dietary advice, and monitoring before considering medication changes.
Stimulants are not contraindicated in Tourette syndrome - methylphenidate can be cautiously used with tic monitoring; guanfacine and clonidine are alternatives that may benefit both ADHD and tics.
The Mental Capacity Act 2005 presumes capacity and requires decision-specific assessment - people with learning disabilities must be supported to make their own decisions wherever possible.
DMD = X-linked, absent dystrophin, proximal weakness + calf pseudohypertrophy + Gowers' + massively elevated CK in a boy - diagnose by genetic testing; corticosteroids slow progression; loss of ambulation by age 10-13 without treatment.
Ring-enhancing lesion + fever + focal neurology = brain abscess - IV antibiotics (ceftriaxone + metronidazole) for 6-8 weeks + surgical aspiration; consider cyanotic CHD as a predisposing factor; Streptococcus is the most common organism.
IIH = raised ICP + normal MRI + elevated LP opening pressure - obesity is a major risk factor; main danger is progressive visual loss; treat with weight loss + acetazolamide; monitor visual fields; exclude venous sinus thrombosis with MRV.
Ataxia-telangiectasia presents with cerebellar ataxia, conjunctival telangiectasiae, raised AFP, and immunodeficiency - patients have extreme radiosensitivity and increased malignancy risk due to ATM gene mutations.
LCH cells express CD1a, S100, and langerin (CD207) - single bone lesions have excellent prognosis, while multisystem disease with risk organ involvement requires vinblastine-based chemotherapy, and BRAF V600E mutations may guide targeted therapy.
TTH = bilateral, pressing, non-pulsating, not worsened by activity, no nausea/vomiting - most common primary headache in children; manage with simple analgesics + lifestyle measures; CBT is first-line for chronic TTH; always check for red flag features.
The ketogenic diet is an evidence-based treatment for drug-resistant epilepsy with approximately 50% of children achieving a >50% seizure reduction - it requires specialist dietetic supervision and regular monitoring.
GMFCS Level III means walking with assistive devices - the 5-level system ranges from Level I (walks without limitations) to Level V (transported in wheelchair with limited head/trunk control).
SDR permanently reduces lower limb spasticity by selectively cutting dorsal nerve rootlets - it is most effective in children with spastic diplegia (GMFCS II-III) with good underlying motor control, combined with intensive post-operative physiotherapy.
The social smile develops at 6 weeks and is a key early social milestone - its absence by 8 weeks should prompt assessment of vision, hearing, and neurodevelopmental status.
Myasthenic crisis = respiratory failure from MG - intubate if FVC <15 mL/kg; IVIG or plasma exchange for rapid antibody reduction; identify and treat triggers; distinguish from cholinergic crisis (muscarinic symptoms present in cholinergic crisis).
Dravet syndrome presents with prolonged febrile seizures in infancy with SCN1A mutations - sodium channel blockers (carbamazepine, lamotrigine, phenytoin) must be avoided as they worsen seizures.
Zolgensma = one-time IV gene therapy for SMA delivering functional SMN1 via AAV9 - earlier treatment = better outcomes; nusinersen (intrathecal) and risdiplam (oral) are alternatives; newborn screening enables pre-symptomatic treatment.
Always check blood glucose in seizures and correct hypoglycaemia immediately - the seizure will not respond to anticonvulsants if the underlying metabolic cause is not addressed.
Before discharge after a febrile seizure, ensure the child has returned to their neurological baseline and that meningitis has been excluded - imaging and EEG are not routinely required.
Sarnat Grade II (moderate) HIE presents with irritability, hypotonia, seizures, and exaggerated reflexes - this is the threshold for therapeutic hypothermia, which must be initiated within 6 hours of birth.
Melatonin is first-line for sleep-onset insomnia in children with ASD after behavioural approaches fail - Slenyto (prolonged-release melatonin) is specifically licensed for this indication in children aged 2-18 years.
Gastrostomy is indicated in cerebral palsy when there is unsafe swallowing, recurrent aspiration, prolonged feeding times (>3 hours/day), or faltering growth - it improves nutrition, reduces aspiration risk, and improves quality of life.
Isolated expressive language delay with preserved social communication and joint attention suggests developmental language disorder rather than ASD - key distinguishing features are eye contact, pointing, and imaginative play.
Alexander disease is a GFAP-related leukodystrophy presenting with macrocephaly, seizures, and frontal-predominant white matter disease - Rosenthal fibres on pathology and a frontal-to-back MRI gradient are diagnostic hallmarks.
Communicating = impaired absorption at arachnoid granulations (post-meningitis, post-haemorrhagic) → VP shunt; Non-communicating = intraventricular obstruction (aqueductal stenosis, tumour) → ETV may be possible; imaging shows dilated lateral, third, AND fourth ventricles in communicating; only proximal ventricles dilated in non-communicating.
MG treatment escalation: pyridostigmine → prednisolone (start low, go slow) → steroid-sparing agent (azathioprine) → biologics (rituximab); IVIG/plasma exchange for acute crises; thymectomy for thymoma and generalised disease.
Wean FiO2 to air first, then gradually increase time off CPAP - successful CPAP weaning requires patience, and premature discontinuation leads to avoidable reintubation.
Congenital hypothyroidism causes prolonged unconjugated jaundice with constipation, macroglossia, and lethargy - it is detected by newborn screening (raised TSH) and requires urgent levothyroxine replacement to prevent neurodevelopmental impairment.
Chronic furosemide causes hypercalciuria and nephrocalcinosis in up to 64% of preterm infants - consider chlorothiazide plus spironolactone as alternatives for long-term diuretic therapy in BPD to reduce this risk.
Target 4-6 mL/kg tidal volume in preterm ventilation - volume-targeted modes that auto-adjust pressure to maintain this range reduce BPD and air leak compared to pressure-only ventilation.
Therapeutic hypothermia targets 33-34°C for 72 hours, commenced within 6 hours of birth - the TOBY trial showed reduced death and disability in moderate-to-severe HIE.
The two-thumb encircling technique on the lower third of the sternum is the preferred method for neonatal chest compressions - it generates better perfusion pressure and is less fatiguing than the two-finger method.
BPD infants need 120-150 kcal/kg/day due to increased metabolic demands - optimise caloric density while restricting fluid volume, and ensure adequate protein for lung repair and catch-up growth.
Bell Stage I NEC is 'suspected' - nonspecific clinical and radiological signs without pneumatosis; definite NEC (Stage II) requires pneumatosis intestinalis or portal venous gas on X-ray.
Phenobarbital 20 mg/kg IV is first-line for neonatal seizures - repeat boluses of 10 mg/kg can be given up to 40 mg/kg total; continuous aEEG monitoring is essential for detection and treatment response assessment.
IVIG is indicated in immune-mediated haemolytic disease (Rh/ABO) approaching exchange transfusion threshold despite intensive phototherapy - it blocks Fc receptors on macrophages, reducing antibody-mediated red cell destruction.
In neonatal candidaemia, remove the central line promptly - biofilm formation makes infection clearance impossible with the catheter in situ, and delayed removal increases mortality and end-organ complications.
Postnatal dexamethasone should be reserved for ventilator-dependent infants after 7-14 days when BPD risk exceeds 50% - use low-dose regimens (DART) and weigh the benefit of extubation against neurodevelopmental risk.
Post-NEC stricture occurs in 15-25% of medically managed NEC cases, presenting 2-8 weeks later with obstructive symptoms - contrast enema confirms the diagnosis and surgical resection is required.
Repeat surfactant dosing should be considered when a preterm infant on CPAP has rising oxygen requirements above 30-40% with clinical signs of ongoing RDS - do not delay re-treatment while the infant deteriorates.
Hypoglycaemia + low cortisol + ambiguous genitalia + pigmentation = CAH - check 17-OHP urgently and commence hydrocortisone; salt-wasting crisis in the second week is life-threatening.
Start amino acids at 2-3 g/kg/day from day 1 in extremely preterm infants, advancing to 3.5-4.0 g/kg/day - early protein prevents catabolism and supports brain growth; the 'aggressive' nutrition approach improves outcomes.
Watershed cortical injury with preserved BGT indicates prolonged partial asphyxia - this carries a better motor prognosis than BGT injury but significant cognitive risk; the pattern reflects vulnerability of border-zone regions to sustained moderate hypoperfusion.
Unilateral PVHI causes contralateral hemiplegia - a right-sided lesion causes left-sided weakness due to the crossing of corticospinal tracts at the pyramidal decussation; severity depends on lesion extent.
Severe unconjugated jaundice without haemolysis in a consanguineous family suggests Crigler-Najjar syndrome - Type I is unresponsive to phenobarbitone and requires lifelong phototherapy or liver transplantation.
Ketotic hypoglycaemia (elevated FFA and ketones with suppressed insulin) indicates appropriate counter-regulatory response but inadequate glucose supply - investigate for glycogen storage disease or hepatic glycogen depletion; contrast with hyperinsulinism (hypoketotic) and FAO disorders (high FFA, low ketones).
Neonatal enterohepatic circulation of bilirubin is enhanced by high intestinal beta-glucuronidase and sparse gut flora - frequent feeding promotes stooling and reduces reabsorption, which is why effective feeding is therapeutic.
When the direct Coombs test is positive without ABO or Rh D incompatibility, consider antibodies to minor red cell antigens - anti-Kell is particularly important as it suppresses erythropoiesis rather than just causing haemolysis.
Mothers with cold sores can safely express breast milk with strict hand hygiene - HSV is transmitted by direct contact, not through breast milk, so infection control focuses on covering the lesion and avoiding skin-to-skin contact with the infant near the face.
Hyponatraemia + weight gain + low urine output + high urine sodium = SIADH - manage with fluid restriction; investigate for the underlying cause (CNS pathology, respiratory disease, medications).
Sleep-wake cycling on aEEG during cooling is a favourable sign predicting better outcome - early recovery of SWC (within 36 hours) indicates preserved thalamocortical function and correlates with normal neurodevelopmental outcome.
Start trophic feeds with mother's expressed breast milk within 24 hours - this primes the gut, reduces NEC risk, and facilitates earlier achievement of full enteral nutrition.
GBS meningitis requires 14-21 days of IV benzylpenicillin - Gram-negative meningitis requires 21-28 days, and a repeat LP at 48-72 hours confirms CSF sterilisation.
High incubator humidity reduces transepidermal water loss in extremely preterm infants whose immature skin lacks adequate keratinisation - this prevents dehydration, hypernatraemia, and excessive heat loss.
Target saturations of 91-95% for BPD infants on home oxygen - lower targets increase mortality while higher targets increase ROP risk; discharge requires comprehensive parental education and follow-up planning.
Cystic PVL causes spastic diplegia because the corticospinal fibres for the legs are most medially placed (closest to the ventricles) and therefore most vulnerable to periventricular white matter injury.
MRI at 5-14 days is the best predictor of outcome after HIE - basal ganglia/thalamic injury predicts motor disability, PLIC signal loss predicts adverse motor outcome, and watershed injury predicts cognitive difficulties.
Neonatal resuscitation uses a 3:1 compression-to-ventilation ratio because the primary pathology is respiratory - this differs from paediatric (15:2) and adult (30:2) ratios.
Dry, scaly skin + poor wound healing in an infant on prolonged TPN suggests essential fatty acid deficiency - ensure adequate lipid provision (minimum 0.5 g/kg/day to prevent deficiency); the triene:tetraene ratio confirms the diagnosis.
VPS is the definitive treatment for persistent PHH once CSF has cleared - approximately 50% of shunts require revision within 2 years, and regular neurosurgical follow-up is essential.
HIE causes multi-organ injury - renal AKI affects 50-70%, cardiovascular dysfunction 60-70%, and hepatic injury 40-80%; comprehensive organ support during therapeutic hypothermia is essential.
The B:A ratio estimates the free bilirubin fraction and serves as an additional safety net for exchange transfusion decisions - it is especially valuable in hypoalbuminaemic infants where total bilirubin alone may underestimate neurotoxic risk.
Caffeine is one of the most impactful interventions in neonatal medicine - the CAP trial showed reduced BPD and improved neurodevelopment, making it standard care for preterm infants.
TTN presents with hyperinflated lungs, perihilar streaking, and fissural fluid on CXR - it is the commonest respiratory problem after caesarean delivery and resolves within 72 hours, but persistent symptoms mandate reconsideration of the diagnosis.
Keep PIP below 25 cmH2O in CDH to protect the hypoplastic lungs - accept permissive hypercapnia and mild hypoxaemia rather than risking pneumothorax with aggressive ventilation.
Any infant with conjugated jaundice needs urgent abdominal ultrasound to exclude biliary atresia - Kasai portoenterostomy should be performed before 60 days of age for the best outcomes; NICE CG98 and the BSPGHAN yellow alert pathway guide early referral.
Meconium causes ball-valve airway obstruction producing air trapping and hyperinflation - combined with chemical pneumonitis and surfactant inactivation, this creates the classic mixed atelectasis-hyperinflation pattern on CXR.
Do not delay ventilation to perform tracheal suction for meconium - start inflation breaths promptly and only suction if ventilation is unsuccessful due to airway obstruction.
Subcutaneous fat necrosis causes hypercalcaemia via ectopic 1-alpha-hydroxylase in macrophages - look for firm skin nodules in stressed term neonates (especially after cooling); monitor calcium for weeks after the lesions appear.
Ammonia >150 μmol/L in a sick neonate = urea cycle defect until proven otherwise - stop protein, give high-calorie glucose, start nitrogen scavengers, and arrange urgent haemodialysis for ammonia >500 μmol/L.
Routine anti-D prophylaxis is given at 28 weeks (single or two-dose regimen) - additional doses are needed after sensitising events, and postnatal anti-D within 72 hours of delivery remains essential to prevent sensitisation.
Potter sequence causes lethal pulmonary hypoplasia because amniotic fluid is essential for lung development - fetal breathing movements with amniotic fluid provide the distending force needed for normal alveolar and airway growth.
Low phosphate and elevated ALP in preterm infants indicate metabolic bone disease of prematurity - phosphate is the earliest marker; prevention requires adequate calcium, phosphate, and vitamin D provision with breast milk fortification.
Formal neurodevelopmental assessment at 2 years corrected age for extremely preterm infants - use corrected age for assessment, employ standardised tools (Bayley), and follow up at 4 years if concerns identified.
Monitor triglycerides during IV lipid infusion - reduce the rate if triglycerides exceed 2.8 mmol/L; hypertriglyceridaemia impairs gas exchange and displaces bilirubin from albumin.
A single normal CRP does not exclude neonatal sepsis - serial measurements at 24-48 hours are far more informative, with persistently normal values having a high negative predictive value to support stopping antibiotics.
NICE recommends measuring bilirubin whenever jaundice is clinically suspected - visual assessment is unreliable for estimating bilirubin levels, and transcutaneous bilirubinometry provides rapid screening with serum confirmation when needed.
Extubation readiness is indicated by low ventilator settings (PIP <16, rate <20, FiO2 <0.30) with good spontaneous effort - ensure caffeine is therapeutic and plan post-extubation CPAP support to reduce re-intubation risk.
Conjugated hyperbilirubinaemia with pale stools at 6 weeks is biliary atresia until proven otherwise - urgent referral is essential as the Kasai procedure must be performed before 45-60 days for the best chance of success.
Manganese in TPN causes cholestasis and neurotoxicity (basal ganglia accumulation) - reduce or remove manganese from TPN in cholestatic infants; biliary excretion impairment creates a vicious accumulation cycle.
Caffeine reduces BPD mainly by facilitating earlier extubation through improved respiratory drive - the CAP trial showed it is one of the most impactful interventions in neonatal medicine.
At least 0.5-1 mL of blood is needed for neonatal blood cultures - inadequate blood volume is the most common reason for false-negative cultures, and every effort should be made to obtain an adequate sample.
Low phosphate with elevated ALP despite breast milk fortification indicates inadequate mineral provision - add phosphate supplementation (1-2 mmol/kg/day) alongside calcium and vitamin D to prevent rickets of prematurity.
Animal-derived surfactants containing SP-B and SP-C are superior to older synthetic preparations - early selective treatment on CPAP is preferred over routine prophylactic administration.
Start PKU diet immediately on screening confirmation - use special PKU formula with controlled natural protein; target phenylalanine 120-360 μmol/L; treatment prevents irreversible intellectual disability.
Rapidly rising bilirubin with Coombs-positive haemolysis requires intensive phototherapy and preparation for exchange transfusion - a rate of rise exceeding 8.5 μmol/L/hour indicates severe haemolysis.
Choledochal cysts require surgical excision due to the risk of malignant transformation - Roux-en-Y hepaticojejunostomy is the definitive procedure, and conservative management is inappropriate.
Delayed passage of meconium with abdominal distension and explosive stool on rectal examination is the classic triad of Hirschsprung disease - suction rectal biopsy is the gold standard for diagnosis.
Non-oliguric hyperkalaemia in very preterm infants is common - K+ >6.5 mmol/L with ECG changes requires immediate calcium gluconate, salbutamol, and insulin-glucose; it typically resolves by day 3-5 as renal tubular function matures.
Persistent periventricular echodensity >14 days represents Grade I PVL with 5-10% cerebral palsy risk - distinguish from normal transient flare (<7 days) and recommend term-equivalent MRI for further characterisation.
Single IUD in monochorionic twins causes acute haemorrhage into the dead twin's circulation - 20-30% risk of ischaemic brain injury in the surviving twin; this risk does not exist in dichorionic twins due to separate placentas.
Breastfeeding failure jaundice with hypernatraemic dehydration is a medical emergency - correct sodium slowly (≤12 mmol/L/day to avoid cerebral oedema) while providing phototherapy and establishing adequate feeding.
Extremely preterm infants (<28 weeks) should be placed in a plastic bag without drying, with a hat, under a radiant warmer, in a room at ≥26°C - hypothermia prevention is a critical determinant of survival.
BPD is defined by oxygen dependency at 36 weeks corrected age - prevention focuses on minimising ventilator-induced lung injury through early CPAP, caffeine therapy, and judicious oxygen targeting.
Postnatal dexamethasone facilitates extubation but carries neurodevelopmental risk - use low doses, late timing, and only when the infant cannot otherwise be weaned from ventilation.
In neonatal sepsis, neutropenia with elevated I:T ratio (>0.2) is more suggestive of infection than neutrophilia - neonates have limited bone marrow reserves and may become neutropenic during overwhelming infection.
Inhaled nitric oxide at 20 ppm is first-line for PPHN - it selectively dilates the pulmonary vasculature without systemic effects, and failure to respond should prompt consideration of ECMO referral.
AIH relapse rate after treatment withdrawal is 60-80% - attempt withdrawal only after ≥2-3 years sustained remission; liver biopsy before withdrawal helps predict outcome; many patients need lifelong immunosuppression; type 2 AIH has even higher relapse rates.
Wilsonian ALF (Coombs-negative haemolysis + liver failure + low caeruloplasmin) = urgent liver transplant - King's Wilson Index ≥11 predicts need for transplant; chelation is too slow; plasmapheresis is a bridge; transplant is curative.
Down syndrome + constipation from infancy + delayed meconium + treatment resistance = investigate for Hirschsprung disease - Down syndrome is the most common chromosomal association; do not assume all constipation in Down syndrome is functional.
Wilson disease with neurological involvement = start D-penicillamine at low dose + gradual increase - neurological worsening can occur initially; trientine may be preferred; add zinc and low-copper diet; treatment is lifelong.
Intermittent colicky pain + pallor + lethargy = suspect intussusception even without redcurrant jelly stool - ultrasound shows the target/doughnut sign with >95% sensitivity; it is the investigation of choice.
Weight fails first → then length → head circumference spared = nutritional cause - endocrine causes typically show length failing before weight; this growth hierarchy pattern is a key diagnostic tool in faltering growth assessment.
D-penicillamine-induced lupus = switch to trientine - never stop copper chelation in Wilson disease; D-penicillamine has numerous autoimmune side effects; supplement pyridoxine (B6) with D-penicillamine; trientine has a better safety profile.
Hypophosphataemia is the hallmark of refeeding syndrome - phosphate drives ATP synthesis when feeding resumes; severe hypophosphataemia (<0.3 mmol/L) causes cardiac arrest, respiratory failure, and rhabdomyolysis; prevent by cautious refeeding and proactive supplementation.
Conjugated jaundice + pale stools + dark urine in an infant = biliary atresia until proven otherwise - this is a TIME-CRITICAL diagnosis; Kasai portoenterostomy must be performed before 60 days of age for best outcomes.
Persistent symptoms + elevated tTG in treated coeliac = dietary non-adherence until proven otherwise - a specialist dietitian review for hidden gluten sources is the essential next step.
Wilson disease = low caeruloplasmin + high urinary copper + Kayser-Fleischer rings + ATP7B mutations - presents with liver and/or neuropsychiatric disease; D-penicillamine or trientine + zinc per EASL 2018 / BSPGHAN; liver transplant curative; screen siblings.
HBsAg-positive mother = vaccine + HBIG within 24 hours of birth - reduces transmission from 90% to <5%; breastfeeding is safe; check anti-HBs at 12 months; maternal tenofovir in third trimester for very high viral loads.
tTG-IgA is the first-line test for coeliac disease - always check total IgA simultaneously to avoid false negatives in IgA-deficient patients.
MR enterography is the gold standard for small bowel Crohn's assessment - no radiation, excellent for detecting active inflammation, strictures, fistulae, and abscesses; faecal calprotectin complements imaging for disease monitoring.
Granulomas in the oesophagus = Crohn's disease (not UC) - the Porto criteria require both OGD and ileocolonoscopy with biopsies from all segments for paediatric IBD diagnosis.
AIH-2 = anti-LKM1 positive, ANA/SMA negative - younger age, more aggressive, higher relapse rate than AIH-1; same treatment (prednisolone + azathioprine) but may need longer or lifelong immunosuppression.
Dermatitis herpetiformis = pruritic grouped vesicles on extensors + coeliac disease - diagnose with perilesional skin biopsy showing granular IgA deposits; treat with GFD ± dapsone (check G6PD first).
Paris classification for paediatric UC: E1 (proctitis), E2 (left-sided), E3 (extensive), E4 (pancolitis) - paediatric UC presents with pancolitis in 70-80% of cases; disease extent influences prognosis and treatment decisions.
EAR for a 6-month-old = ~95-100 kcal/kg/day - requirements decrease per kg with age; catch-up growth needs 120-150% of EAR; a detailed dietary history with energy calculation is essential in faltering growth assessment.
Chronic inflammation (IL-6, TNF-α) is the primary driver of growth failure in Crohn's - not steroids; growth failure may precede GI symptoms; delayed bone age = preserved growth potential; aggressive disease control is the key to growth recovery.
Always check TPMT before starting azathioprine - absent TPMT = contraindicated (severe myelosuppression risk); intermediate TPMT = reduced dose; regular FBC monitoring is essential for all patients.
Double bubble + no distal gas + Down syndrome = duodenal atresia - treated by duodenoduodenostomy; 30% associated with trisomy 21; often detected antenatally with polyhydramnios.
Immune-tolerant HBV = HBeAg+, very high DNA, normal ALT - acquired perinatally; generally NOT treated (poor response); monitor for transition to immune-active phase; seroconversion from HBeAg to anti-HBe is the treatment goal.
Perianal disease (fistulae, skin tags, abscesses) is strongly suggestive of Crohn's over UC - Crohn's is transmural with skip lesions while UC is continuous and mucosal.
Failure to pass meconium within 48 hours in a term neonate = think Hirschsprung disease - suction rectal biopsy is the gold standard showing absent ganglion cells; rectosigmoid is the most commonly affected segment.
Before anti-TNF therapy - screen for TB (Mantoux/IGRA), hepatitis B, check VZV immunity, and ensure live vaccines are up to date; anti-TNF carries risks of TB reactivation, serious infections, and rarely HSTCL.
SPT identifies IgE-mediated CMPA (immune reaction to milk proteins); lactose intolerance is enzyme deficiency (carbohydrate malabsorption) - CMPA requires complete milk protein avoidance; lactose intolerance allows lactose-free dairy.
Biliary atresia is the most common indication for paediatric liver transplantation - outcomes are excellent (>90% 1-year survival); living-related donor transplant is an important option; lifelong immunosuppression with tacrolimus is standard.
Entecavir (≥2 years) or tenofovir (≥12 years) are first-line for chronic HBV - treat when ALT is elevated (immune-active phase); goal is HBeAg seroconversion and HBV DNA suppression; pegylated interferon is an alternative with a finite course.
Prolonged jaundice - split bilirubin is the KEY investigation; unconjugated = likely benign (breast milk jaundice, check TFTs and haemolysis screen); conjugated = potentially serious (biliary atresia, neonatal hepatitis) and requires urgent investigation.
Refeeding syndrome = hypophosphataemia + hypokalaemia + hypomagnesaemia after nutritional reintroduction - prevent by starting feeds cautiously (50-75% requirements), monitoring electrolytes frequently, and supplementing phosphate, potassium, magnesium, and thiamine.
Pull-through procedure (TERPT, Soave, Swenson, or Duhamel) is the definitive surgery for Hirschsprung - Hirschsprung-associated enterocolitis (HAEC) is the most serious complication; most children achieve good continence.
PSC = cholestatic LFTs + beaded bile ducts on MRCP + UC association - runs an independent course from IBD activity; no proven disease-modifying treatment; risk of cholangiocarcinoma; may require liver transplantation.
The transition zone on contrast enema marks the aganglionic-to-ganglionated junction in Hirschsprung - the distal segment is narrow (aganglionic/contracted) and the proximal is dilated (ganglionated); sensitivity is ~70%, so a normal contrast enema does not exclude Hirschsprung.
24-hour pH-impedance monitoring is the gold standard for GORD assessment - it detects acid and non-acid reflux; indicated for refractory symptoms, diagnostic uncertainty, or pre-surgical evaluation; reflux index >7% is pathological.
Undetectable IgA + negative tTG-IgA = use IgG-based coeliac tests (IgG-DGP or IgG-tTG) - selective IgA deficiency is 10× more common in coeliac patients; always check total IgA alongside tTG-IgA to detect this pitfall.
Kwashiorkor = bilateral oedema + hypoalbuminaemia + skin changes + hair changes + hepatomegaly - a form of SAM; follow WHO 10-step protocol; avoid refeeding syndrome by cautious caloric reintroduction.
Cholestatic liver disease = supplement ADEK vitamins - E is depleted fastest (causes ataxia), K deficiency causes bleeding, D causes rickets, A causes eye disease; oral supplementation may be insufficient in severe cholestasis.
No iron in acute SAM treatment - iron feeds bacteria, generates toxic free radicals in the depleted antioxidant state, and increases infection risk; start iron only from day 14 (rehabilitation phase) at 3 mg/kg/day.
HBsAg-positive mother + immunised infant = breastfeeding is safe and encouraged - vaccine + HBIG provide >95% protection; no need to delay until vaccination is complete; WHO, NICE, and RCOG all support breastfeeding.
Painless rectal bleeding in a 2-8 year old = juvenile polyp (most common cause) - diagnose and treat by colonoscopic polypectomy; solitary polyps are benign; juvenile polyposis syndrome (≥5 polyps) requires cancer surveillance.
Transient elastography (FibroScan) non-invasively assesses liver fibrosis by measuring stiffness - higher kPa = more fibrosis; useful for monitoring disease progression; limitations include acute inflammation, obesity, and ascites falsely elevating readings.
EEN for 6-8 weeks is first-line induction for paediatric Crohn's - it achieves mucosal healing comparable to steroids without compromising growth; particularly valuable in growth-delayed children.
Recurrent intussusception (especially in children >2 years) = investigate for a pathological lead point - Meckel diverticulum, polyp, lymphoma, or duplication cyst; surgical exploration may be needed.
E. coli O157 + MAHA + thrombocytopenia + AKI = STEC-HUS; supportive care only (RCPCH/BAPN); avoid antibiotics and platelet transfusions; notify UKHSA.
Faecal impaction = PEG 3350 escalating dose disimpaction (NICE CG99), then maintenance for months to years - overflow soiling resolves with disimpaction; do NOT stop laxatives prematurely.
Obese child + hepatomegaly + raised ALT + fatty liver on ultrasound = NAFLD - most common chronic liver disease in children; lifestyle modification (weight loss, diet, exercise) is the cornerstone of treatment; liver biopsy distinguishes simple steatosis from NASH.
Pyloric stenosis is urgent, NOT emergency surgery - correct the metabolic alkalosis and electrolytes first (target Cl >100, K >3.5, HCO3 <26) before proceeding to Ramstedt's pyloromyotomy.
A thriving, happy 'spiiter' has physiological GOR, not GORD - reassurance is the mainstay; most resolves by 12-18 months; acid suppression is NOT recommended for uncomplicated GOR (NICE NG1).
Coeliac disease = lifelong gluten-free diet - normalised serology means good adherence, not cure; wheat, barley, and rye must all be avoided permanently.
HAEC = fever + explosive diarrhoea + abdominal distension in a Hirschsprung patient - treat urgently with IV antibiotics + rectal washouts + IV fluids; can occur pre- and post-operatively; untreated HAEC can be fatal.
Faltering growth = weight falling across ≥2 centile spaces - preferred over 'failure to thrive' (NICE NG75); weight falters first, then length, then head circumference; investigate for organic causes and assess feeding/psychosocial factors.
A1AT deficiency = autosomal recessive (codominant), PiZZ is most severe - liver disease from polymerised Z protein accumulation; lung disease from unopposed elastase; liver transplantation is curative for both liver and lung risk.
AIH-1 = elevated IgG + ANA/SMA + interface hepatitis with plasma cells - treat with prednisolone + azathioprine; most achieve remission but relapse rate is high; always exclude Wilson disease.
Sweat chloride ≥60 mmol/L = CF - faltering growth + chronic diarrhoea + recurrent respiratory infections is the classic triad; F508del is the most common mutation; UK newborn screening uses IRT + CFTR analysis.
MCTs bypass bile-dependent absorption - absorbed directly into portal vein without emulsification; ideal for cholestatic liver disease; but cannot provide essential fatty acids (linoleic, alpha-linolenic), so some LCTs must be included.
UC surveillance colonoscopy starts 8-10 years after diagnosis - risk increases with pancolitis, longer duration, PSC, and persistent inflammation; chromoendoscopy with targeted biopsies is preferred over random biopsies.
Wilson disease diet = avoid liver, shellfish, chocolate, mushrooms, nuts (high copper foods) - aim for <1 mg copper/day; dietary restriction complements but does not replace chelation therapy; avoid copper cookware.
tTG ≥10× ULN + positive EMA on a second sample = coeliac diagnosed without biopsy (ESPGHAN) - if criteria not fully met, proceed to duodenal biopsy with at least 4 D2 + 1 bulb samples.
Erythema nodosum is the most common extra-intestinal manifestation of IBD and parallels disease activity - PSC and ankylosing spondylitis run an independent course.
Live vaccines (MMR, BCG, varicella, live influenza nasal spray) are contraindicated on immunosuppression - optimise vaccination BEFORE starting immunosuppressive therapy; inactivated vaccines are safe and recommended.
Pyloric stenosis metabolic triad = hypochloraemic, hypokalaemic metabolic alkalosis - caused by H+ and Cl- loss in vomitus; paradoxical aciduria occurs late when the kidneys sacrifice H+ to retain sodium.
Hepatitis A is self-limiting - no antiviral therapy needed; does NOT cause chronic infection; fulminant hepatic failure is rare (<1%); prevention is by vaccination and hygiene; post-exposure vaccine prophylaxis within 14 days for contacts.
Wilson disease monitoring = LFTs + 24-hour urinary copper + FBC + free copper + ophthalmology - treatment is lifelong; non-compliance (common in adolescents) can cause acute liver failure; Kayser-Fleischer rings resolve with effective treatment.
Neonatal conjugated jaundice = urgent abdominal ultrasound (fasting) to assess gallbladder and biliary anatomy - key findings for biliary atresia: absent/small gallbladder, triangular cord sign; comprehensive blood panel including A1AT, TFTs, and galactosaemia screen.
Perianal fistulating Crohn's unresponsive to antibiotics = anti-TNF therapy (infliximab preferred) - combined medical-surgical approach with EUA, seton drainage, and MRI pelvis for assessment.
MDMA can cause fulminant hepatic failure in adolescents - always include recreational drugs in the differential of acute liver failure; management includes NAC infusion and urgent transplant assessment; mortality without transplantation is high.
D-penicillamine side effects (nephrotoxicity, lupus, marrow suppression) require switching to trientine - never stop copper chelation in Wilson disease; monitor urinary copper and free serum copper; treatment is lifelong.
Persistent elevated transaminases in coeliac disease despite a gluten-free diet = investigate for autoimmune hepatitis - coeliac disease is associated with multiple autoimmune conditions; AIH type 1 (ANA/SMA) is more common than type 2 (anti-LKM1).
Critical sample = comprehensive investigations AT THE TIME of hypoglycaemia - insulin, C-peptide, cortisol, GH, FFAs, ketones, lactate, ammonia, amino acids, acylcarnitines, urine organics; the 'golden opportunity' for diagnosis; results change rapidly once glucose corrected.
Liver failure + cataracts in an infant on breast milk = galactosaemia until proven otherwise - urine reducing substances + GALT enzyme assay; STOP galactose immediately; cataracts may be reversible; E. coli sepsis is an associated life-threatening complication.
Carrier testing deferred until the child can give informed consent (mid-adolescence) - respects future autonomy; exceptions when carrier state has health implications (sickle trait); genetic counselling essential; professional guidelines (BSGM, RCPCH) guide practice.
Autosomal recessive = 25% risk if both parents are carriers - 50% carriers, 25% unaffected non-carriers; each pregnancy is independent (25% risk regardless of previous outcomes); CF carrier frequency ~1 in 25 in UK Caucasians.
GA1 = macrocephaly + risk of acute striatal necrosis (6-36 months) causing dystonia - detected on newborn screening (elevated C5-DC); subdural haemorrhages can mimic NAI; emergency protocol during illness is critical; lysine-restricted diet + carnitine; screening and early management prevent crises.
CATCH-22 = Cardiac (conotruncal) + Abnormal facies + Thymic hypoplasia + Cleft palate + Hypocalcaemia - 22q11.2 deletion; most common microdeletion; test all conotruncal cardiac defects; ~25% develop psychiatric illness (schizophrenia); 93% de novo.
NIPT = cffDNA analysis from maternal blood from 10 weeks - >99% sensitivity for T21 with 0.1% FPR; it is a SCREENING test (not diagnostic); positive NIPT needs CVS/amnio confirmation; analyses placental DNA (not truly 'fetal'); may fail with low fetal fraction.
Neonatal blast cells in Down syndrome = TAM (transient abnormal myelopoiesis) - usually self-limiting but 20-30% develop AMKL within 4 years; caused by GATA1 + trisomy 21; also increased ALL risk (20-fold); solid tumour risk is decreased in Down syndrome.
Niemann-Pick A = hepatosplenomegaly + neurodegeneration + cherry-red spots + foam cells - distinguish from Tay-Sachs (NO hepatosplenomegaly) and Gaucher (crinkled paper cells, NO cherry-red spots); Niemann-Pick C is a DIFFERENT disease (NPC1/NPC2, vertical gaze palsy).
X-linked SCID (IL2RG/common gamma chain) is the most common SCID - T−B+NK−; detected by newborn TREC screening; HSCT is curative (best outcomes before 3.5 months); paediatric emergency - live vaccines MUST be avoided; gene therapy emerging for some forms.
Hunter (MPS II) = ONLY X-linked MPS - NO corneal clouding (key difference from Hurler/MPS I); IDS deficiency; ERT available (idursulfase) but does not cross BBB; variable severity; all other MPS types are autosomal recessive.
MELAS = m.3243A>G (80%) - stroke-like episodes NOT in vascular territories; maternal inheritance; blood mutation level decreases with age (test urine); L-arginine for acute episodes; also causes MIDD (maternally inherited diabetes and deafness).
Down syndrome = most common chromosomal disorder - hypotonia is the most consistent neonatal finding; AVSD is the most common cardiac defect; 95% non-disjunction, 4% translocation (recurrence risk differs); screen for associated conditions throughout life.
Vertical supranuclear gaze palsy + ataxia + splenomegaly + cognitive/psychiatric decline = NPC - NPC1/NPC2 cholesterol-trafficking defect, completely separate from sphingomyelinase deficiency in NPA/B; confirm with oxysterols and gene testing, treat with miglustat (UK metabolic medicine pathways).
Positive CHT screen = urgent referral + confirmatory TFTs + levothyroxine within 2 weeks of birth - treated early = normal IQ; thyroid dysgenesis is the most common cause; central hypothyroidism is NOT detected by TSH screening; levothyroxine 10-15 µg/kg/day.
NF1 = autosomal dominant, 50% de novo - complete penetrance by age 5, highly variable expressivity; ≥2 diagnostic criteria needed; 6+ café-au-lait spots + axillary freckling are most common features; surveillance for optic glioma, scoliosis, and MPNST.
Salt-wasting CAH = hyponatraemia + hyperkalaemia + ambiguous genitalia (46,XX) + elevated 17-OHP - EMERGENCY: IV hydrocortisone + saline + K+ management; 21-hydroxylase deficiency is most common; present day 7-14; newborn screening detects via 17-OHP.
FAO defects = HYPOketotic hypoglycaemia (ketones LOW despite low glucose) - MCADD is the most common; ketones PRESENT = think ketotic hypoglycaemia, GSD, organic acidaemia; always take a 'critical sample' during hypoglycaemia for diagnosis.
Tandem MS = multiple metabolic conditions from one blood spot - amino acids and acylcarnitines measured simultaneously; PKU, MCADD, MSUD, IVA, GA1, HCU all detected by MS/MS; CF and CHT use different methods on the same blood spot; technology allows expansion to more conditions.
MCADD = hypoketotic hypoglycaemia + elevated C8 - most common fatty acid oxidation defect; screened on newborn blood spot; avoid fasting; emergency regimen during illness; previously a significant cause of SIDS before screening was introduced.
Marfan = FBN1/fibrillin-1 - tall + arachnodactyly + UPWARD lens subluxation + aortic root dilatation; distinguish from homocystinuria (DOWNWARD subluxation); beta-blockers/losartan to slow aortic dilatation; prophylactic aortic root replacement at 5 cm.
PKU = Phe-restricted diet + Phe-free amino acid supplements - start within 2 weeks; target Phe 120-360 µmol/L in children; lifelong treatment; breastfeeding is possible; avoid aspartame; sapropterin for BH4-responsive patients; maternal PKU requires strict control before conception.
46,XY female phenotype with primary amenorrhoea + absent uterus + inguinal gonads = CAIS - androgen receptor mutation; breast development occurs through aromatisation; gonadectomy after puberty; inguinal hernia in a girl - always consider CAIS.
Klinefelter = 47,XXY - tall + small testes + gynaecomastia + learning difficulties; most common sex chromosome disorder in males; only 25% diagnosed in lifetime; testosterone replacement from puberty; micro-TESE may enable biological fatherhood.
Anticipation = earlier onset in successive generations due to trinucleotide repeat expansion - paternal expansion in HD (CAG), maternal in myotonic dystrophy (CTG); juvenile HD almost always paternal; do NOT predictively test asymptomatic children for adult-onset conditions.
Neonatal hyperammonaemia + respiratory alkalosis = urea cycle defect - OTC deficiency is most common (X-linked); emergency: stop protein, IV glucose, nitrogen scavengers (Na benzoate, Na phenylbutyrate), haemodialysis if ammonia >400; low citrulline = proximal block.
Down syndrome + speech delay - always check hearing; glue ear affects 75-80%; annual audiology from early childhood; grommets have higher complication rate; also screen for: cardiac, thyroid, vision, atlantoaxial instability, and development.
Invasive prenatal diagnosis - CVS from 11 weeks, amniocentesis from 15 weeks; both ~0.5-1% miscarriage risk; QF-PCR gives rapid results in 2-3 days; CVS may show confined placental mosaicism; NIPT is screening, not diagnostic.
TRECs = T-cell receptor excision circles - marker of thymic T-cell production; low TRECs = SCID or severe T-cell deficiency; enables diagnosis before infections (HSCT before 3.5 months = best outcomes); prevents fatal live vaccines; also detects DiGeorge syndrome.
mtDNA disease reproductive options = prenatal testing (heteroplasmy quantification), PGT-M (embryo selection), mitochondrial donation (UK legalised 2015 - MST or PNT), and donor oocytes; heteroplasmy levels may not predict severity accurately.
Tyrosinaemia type 1 = liver failure + renal Fanconi + cabbage odour + elevated succinylacetone (pathognomonic) - FAH deficiency; NTBC (nitisinone) has transformed prognosis; HCC risk if untreated; succinylacetone is THE diagnostic test; diet alone is insufficient.
CMA = first-tier test for unexplained developmental delay - detects submicroscopic deletions/duplications (15-20% diagnostic yield); CANNOT detect balanced translocations; may find VUS (variants of uncertain significance); if normal, consider WES/WGS.
Achondroplasia = AD, 80% de novo, FGFR3 gain-of-function (Gly380Arg) - paternal age effect; recurrence risk <1% for unaffected parents; homozygous achondroplasia is lethal; rhizomelic shortening with macrocephaly; vosoritide (CNP analogue) is a new growth-promoting therapy.
Wilson-Jungner criteria (1968) = foundation of screening programme evaluation - must be an important health problem, accepted treatment available, suitable test, recognisable early stage, facilities available, cost-effective; screening must be equitable and population-based, not restricted by ability to pay.
Mitochondrial disorders - most paediatric cases are nuclear gene mutations (autosomal recessive); mtDNA mutations show maternal inheritance; heteroplasmy explains variable severity; Leigh syndrome can be mtDNA or nuclear; always consider both inheritance patterns in genetic counselling.
Turner syndrome = 45,X - short stature + absent puberty + webbed neck + coarctation/bicuspid AV; growth hormone improves height; oestrogen at 12 years for puberty; cardiac surveillance lifelong (dissection risk); most infertile but donor oocyte IVF possible.
CF screening = elevated IRT then CFTR mutations then sweat test (≥60 mmol/L diagnostic) - most common serious AR condition in Caucasians; F508del is most common mutation; Kaftrio (triple combination CFTR modulator) has transformed outcomes; carrier frequency 1 in 25.
KSS = PEO + ptosis + retinal pigmentation before age 20 + cardiac conduction defects - large mtDNA deletion (usually sporadic, low recurrence risk); cardiac monitoring is critical (sudden heart block); distinguish from CPEO (milder, PEO only) and Pearson syndrome (same deletion but presents in infancy with sideroblastic anaemia).
Antenatal cystic hygroma + hydrops + left-sided cardiac defect = Turner syndrome (45,X) - 99% of 45,X conceptions miscarry; resolved cystic hygroma → postnatal webbed neck; counsel about variable phenotype and good quality of life with appropriate management.
GSD I (von Gierke) = severe fasting hypoglycaemia + hepatomegaly + lactic acidosis + hyperuricaemia - glucose-6-phosphatase deficiency; cannot release free glucose; cornstarch from age 1; avoid fructose/sucrose/galactose; GSD Ib also has neutropenia.
Ambiguous genitalia = urgent karyotype (FISH for SRY) + 17-OHP + electrolytes - CAH (21-hydroxylase deficiency) is the most common cause; salt-wasting CAH can be fatal at 1-2 weeks; do NOT assign sex until investigations complete; MDT management essential.
Trisomy 13 (Patau) = midline defects + polydactyly + scalp defects + complex CHD - median survival 7-10 days; holoprosencephaly is a characteristic brain malformation; even poorer prognosis than trisomy 18; palliative care is standard approach.
PKU = elevated phenylalanine, fair features, musty odour - Phe-restricted diet + amino acid supplements, started within 2 weeks; lifelong treatment; maternal PKU = strict control in pregnancy to protect fetus; newborn screening saves lives.
Wilson disease = KF rings + liver disease + low caeruloplasmin + neuropsychiatric features - ATP7B mutation; treatable with chelation (D-penicillamine/trientine) + zinc; liver transplant for fulminant failure; always consider in unexplained liver disease aged >3 years; screen siblings.
LHON = bilateral painless visual loss in a young male + maternal inheritance - mtDNA point mutations (m.11778 most common); male predominance despite maternal inheritance; smoking and alcohol increase penetrance; idebenone may help; m.14484 has best prognosis for recovery.
TORCH infections mimic genetic syndromes - always consider and exclude congenital infection before genetic diagnosis; clinical features overlap significantly; CMV is the most common congenital infection; urine CMV PCR within 3 weeks of birth is diagnostic.
X-linked recessive from carrier mother - 50% of sons affected, 50% of daughters are carriers; no male-to-male transmission (key distinguishing feature from AD); skewed X-inactivation can cause symptoms in carrier females; obligate carrier = mother of affected son.
DMD = progressive proximal weakness + Gowers sign + calf pseudohypertrophy + CK >10,000 in a boy - wheelchair by ~12 years; corticosteroids prolong ambulation; absent dystrophin; new therapies (ataluren, exon-skipping) offer hope for specific mutations.
UK newborn blood spot screens 9 conditions - SCD, CF, CHT, PKU, MCADD, MSUD, IVA, GA1, HCU; taken day 5; SCID screening being rolled out; screening aims to detect conditions BEFORE symptoms develop for early treatment.
Ashkenazi Jewish carrier screening = Tay-Sachs, Gaucher, Canavan, familial dysautonomia, CF, and others - founder effect increases carrier frequencies; Tay-Sachs screening has reduced disease incidence by >90%; population-specific screening also for SCD/thalassaemia in other populations.
MPS VI = somatic features of MPS I BUT intelligence preserved - arylsulphatase B deficiency; corneal clouding present (unlike MPS II); ERT (galsulfase) and HSCT available; cervical spine surveillance essential; high anaesthetic risk in all MPS types.
Penetrance = proportion with genotype who show phenotype; expressivity = severity range among those affected; NF1 = complete penetrance, variable expressivity; penetrance × recurrence risk = true disease risk; age-dependent penetrance explains why some AD conditions present later.
Double-bubble sign + bilious vomiting + Down syndrome = duodenal atresia - 30-40% of duodenal atresias occur in Down syndrome; surgical correction with duodenoduodenostomy; also screen for Hirschsprung disease (100x increased risk) and coeliac disease (5-7%).
MSUD = sweet odour + neonatal encephalopathy - branched-chain amino acids (leucine, isoleucine, valine) accumulate; leucine is the most toxic; screened on newborn blood spot; emergency management = stop protein + high calories; liver transplant is curative.
Gaucher = 'crinkled paper' macrophages + hepatosplenomegaly + bone disease - most common LSD; glucocerebrosidase deficiency; Type 1 (95%, non-neuro) responds to ERT; common in Ashkenazi Jewish; GBA1 mutations also increase Parkinson disease risk.
Pompe = floppy infant + massive cardiomyopathy + short PR interval - acid α-glucosidase deficiency; ERT (alglucosidase alfa) is life-saving if started early; CRIM-negative patients need immune modulation; late-onset form has NO cardiomyopathy; it is both a GSD AND a lysosomal storage disease.
Pearson = infantile sideroblastic anaemia + pancreatic insufficiency → may evolve into KSS if child survives - same mtDNA deletion causes both; mitotic segregation changes tissue mutation levels over time; anaemia may improve (rapid cell turnover) but muscle/brain features worsen (post-mitotic tissue).
Biotinidase deficiency = impaired biotin recycling → multiple carboxylase deficiency - seizures, hearing loss, optic atrophy, alopecia; ALL preventable with oral biotin; not screened in UK but screened in many countries; model screening condition (simple, cheap, effective treatment).
MPS III (Sanfilippo) = predominant neurological disease - hyperactivity, aggression, sleep disturbance, dementia with MILD somatic features; easily misdiagnosed as ADHD/autism; 4 subtypes (A-D); no approved treatment; gene therapy trials underway; elevated heparan sulphate on urine GAGs.
GSD III (Cori) = hepatomegaly + mild hypoglycaemia + myopathy + elevated CK - debranching enzyme deficiency; milder than GSD I (gluconeogenesis intact); improves with age; high-protein diet beneficial (unlike GSD I); monitor for cardiomyopathy in type IIIa.
Galactosaemia = jaundice + hepatomegaly + E. coli sepsis + positive urine reducing substances (but glucose negative) - STOP lactose immediately; GALT enzyme deficiency; screened on blood spot; long-term ovarian failure despite early treatment is common.
NKH = elevated CSF:plasma glycine ratio (>0.08) + neonatal seizures + hiccups - glycine cleavage system deficiency; glycine is excitatory at NMDA receptors; classical form has very poor prognosis; burst-suppression on EEG; sodium benzoate + NMDA antagonists have limited efficacy.
Autosomal dominant = 50% risk to each child - vertical transmission, both sexes affected, variable expressivity; de novo mutations are common for some AD conditions (achondroplasia ~80%, NF1 ~50%); germline mosaicism can cause recurrence even with apparent de novo mutations.
SMA = SMN1 deletion, autosomal recessive - three transformative therapies (gene therapy, nusinersen, risdiplam) have changed prognosis; earlier treatment = better outcomes; newborn screening enables pre-symptomatic treatment; SMN2 copy number determines severity.
Noonan = pulmonary stenosis (dysplastic valve) + HCM + short stature + characteristic facies + normal karyotype - both sexes affected (unlike Turner); RAS-MAPK pathway mutations (PTPN11 most common); part of the 'RASopathy' family; GH licensed for short stature.
Elevated 17-OHP = CAH (21-hydroxylase deficiency) - salt-wasting crisis at 7-14 days is life-threatening; 46,XX virilisation; lifelong hydrocortisone + fludrocortisone; stress doses during illness are critical; screened in many countries but NOT currently in UK standard programme.
Friedreich ataxia = progressive ataxia + cardiomyopathy + areflexia + pes cavus + scoliosis - GAA repeat in FXN (frataxin); autosomal RECESSIVE (unique among trinucleotide repeat disorders); cardiomyopathy is main cause of death; wheelchair by ~15-20 years.
Hypermobile EDS = most common type - joint hypermobility + chronic pain + soft skin; gene UNKNOWN (unlike other subtypes); diagnosed clinically using 2017 criteria; manage with physiotherapy, pain management, and MDT support; distinguish from vascular EDS (COL3A1, life-threatening).
HbFS = sickle cell disease (NO HbA) - penicillin from 3 months; fever ≥38°C is an emergency; TCD screening from age 2; hydroxycarbamide reduces crises; HbFAS = sickle trait; parental education about splenic sequestration is life-saving.
Osteomyelitis in SCD = Salmonella is most common (not S. aureus) - difficult to distinguish from bone crisis; MRI is the best imaging; empirical antibiotics must cover both Salmonella and S. aureus; blood cultures before antibiotics.
Hepatoblastoma = most common liver tumour in children (peak age 6 months-3 years) + markedly elevated AFP - associated with BWS and FAP; treatment: chemo → surgery (± liver transplant if unresectable); AFP <100 paradoxically = worse prognosis (poorly differentiated); overall survival >80% standard-risk.
No vitamin K at birth + neonatal bleeding + prolonged PT/APTT + normal platelets = VKDB - preventable with IM vitamin K at birth; late VKDB (2-12 weeks) can cause fatal intracranial haemorrhage; treat with IV vitamin K ± FFP/PCC.
Wilms tumour = intrarenal, does NOT cross midline, age 3-5; Neuroblastoma = extra-renal, CROSSES midline, younger age; Wilms associated with WAGR, Beckwith-Wiedemann, Denys-Drash; overall survival >90% for favourable histology.
Painless hard testicular mass + elevated AFP/beta-hCG = testicular GCT - radical inguinal orchidectomy (NOT trans-scrotal); BEP chemotherapy for advanced disease; >95% cure for early-stage; teach testicular self-examination.
Neuroblastoma = abdominal mass CROSSING the midline + raccoon eyes + elevated urinary catecholamines + MIBG scan; most common extracranial solid tumour in children; MYCN amplification = poor prognosis; crosses midline (unlike Wilms which does NOT).
Typhlitis = RLQ pain + caecal wall thickening + neutropenia - treat with bowel rest, IV antibiotics (anaerobic cover), and surgical standby; avoid surgery if possible in neutropenia; mortality 20-50%; G-CSF to accelerate neutrophil recovery.
ALL relapse - bone marrow is most common site; testes are a sanctuary site in boys; early relapse has worse prognosis; newer therapies include CAR T-cells and blinatumomab; symptoms to watch: pallor, bruising, bone pain, headache, testicular swelling; overall relapse rate ~10-15%.
TCD ≥200 cm/s in SCD = chronic transfusion to HbS <30% - reduces stroke risk from ~10% to <1%/year; annual TCD screening from age 2; complications include iron overload (chelation) and alloimmunisation (extended matching).
HSCT cures SCD - indications: severe disease despite medical therapy; matched sibling donor gives >90% DFS; gene therapy and gene editing are promising alternatives; decision requires careful risk-benefit analysis with the family.
HbF >90% + absent HbA + severe microcytic anaemia + transfusion-dependent from infancy = beta-thalassaemia major - regular transfusions + iron chelation are essential; HSCT is potentially curative; untreated disease is fatal.
Sudden massive splenomegaly + severe anaemia + reticulocytosis in SCD = splenic sequestration crisis - life-threatening emergency; transfuse cautiously (risk of hyperviscosity on red cell release); teach parents to palpate spleen; consider splenectomy after severe episodes.
Survivorship = lifelong structured follow-up - late effects screening tailored to treatment; psychosocial support; fertility; health promotion; transition to adult services; Treatment Summary and Care Plan; >80% of children with cancer are now cured - survivorship care ensures quality of life.
Relapsed ALL = intensive re-induction → MRD assessment → HSCT for most bone marrow relapses; novel therapies (blinatumomab, CAR-T cells) for refractory disease; CAR-T achieves 70-90% remission in heavily pre-treated patients; timing and site of relapse determine prognosis.
VIP-secreting neuroblastoma = profuse watery diarrhoea + hypokalaemia - more differentiated tumour with better prognosis; resolves after resection; OMS (dancing eyes-dancing feet) = paraneoplastic autoimmune with poor neurological outcome despite good tumour prognosis; both can lead to neuroblastoma diagnosis.
MIBG = taken up by catecholamine-producing tissue (neuroblastoma cells) - identifies primary and metastatic disease; MIBG-avid in ~90% of neuroblastomas; thyroid blockade required before scan; therapeutic I-131 MIBG for relapsed disease; Curie score assesses extent.
Febrile neutropenia = EMERGENCY - IV antibiotics within 1 hour; blood cultures BEFORE antibiotics but do NOT delay; piperacillin-tazobactam first-line; add antifungals if fever persists >48 hours; sepsis is the leading cause of treatment-related death; DO NOT perform rectal examination.
CRBSI = most common serious CVC complication - CoNS (S. epidermidis) most frequent; line removal for S. aureus, Candida, Pseudomonas; ethanol lock for line salvage; other complications: thrombosis, occlusion, fracture, extravasation; strict aseptic technique for prevention.
Rasburicase converts uric acid → allantoin (soluble) - fast-acting, most effective TLS prophylaxis; CONTRAINDICATED in G6PD deficiency; allopurinol prevents NEW uric acid formation but does not break down existing; rasburicase is preferred for high-risk TLS.
TLS prophylaxis = IV hydration 3 L/m²/day + rasburicase (high-risk) or allopurinol (lower-risk) - start BEFORE chemotherapy; no K+ or PO4 in IV fluids; rasburicase is contraindicated in G6PD; keep uric acid samples on ice if rasburicase given; avoid urinary alkalinisation; monitor Q4-6 hourly.
BWS = macroglossia + hemihypertrophy + omphalocele + neonatal hypoglycaemia - 7-10% tumour risk (Wilms + hepatoblastoma); surveillance ultrasound every 3 months until age 7-8; AFP every 3 months until age 4; chromosome 11p15 imprinting disorder; bilateral Wilms tumours are more common in syndromic cases.
ALL treatment = 2-3 years total - induction → consolidation → maintenance (longest phase); daily 6-MP and weekly methotrexate in maintenance; intrathecal methotrexate for CNS prophylaxis; MRD at end of induction is the strongest prognostic factor; overall cure rate ~90%.
UK newborn screening detects SCD (all significant genotypes) + other haemoglobin variants + beta-thalassaemia major - performed on day 5; carriers are identified and parents counselled; early detection enables penicillin prophylaxis from 3 months and specialist enrolment.
Asparaginase → reduced AT-III, protein C/S → prothrombotic state → CVST - presents with headache, visual changes, seizures; diagnose with MRI/MRV; treat with LMWH; consider holding/switching asparaginase preparation.
Deferasirox monitoring = monthly creatinine + LFTs, 3-monthly ferritin - nephrotoxicity is the main concern; desferrioxamine = ototoxicity, ophthalmotoxicity; deferiprone = agranulocytosis (weekly FBC), best for cardiac iron.
MSCC = dexamethasone immediately + MRI whole spine + urgent oncology/neurosurgery - treat BEFORE the child loses the ability to walk; outcomes depend on neurological function at treatment; MRI the ENTIRE spine; lymphoma/ALL responds rapidly to steroids/chemo.
VZIg within 10 days (ideally 72 hours) of exposure for non-immune immunocompromised children - significant exposure = household, face-to-face >5 min, same room >15 min; observe for 28 days post-VZIg; if varicella develops, IV aciclovir; varicella vaccine is contraindicated during immunosuppression.
RMS = most common soft tissue sarcoma in children - desmin+ myogenin+ cross-striations; embryonal (commonest, better prognosis) vs alveolar (PAX-FOXO1 fusion, worse); head/neck most common site; orbit has excellent prognosis; VAC chemotherapy + local control.
Overall childhood cancer survival ~80-84% - one of medicine's great success stories; varies enormously by type (>95% to <10%); due to clinical trials, multidisciplinary care, and supportive care advances; future goals: reduce late effects and improve high-risk outcomes; >80% of UK children with cancer enter clinical trials.
Childhood cancer survivors need lifelong follow-up - anthracyclines cause cardiomyopathy; cranial irradiation causes neurocognitive and endocrine effects; alkylating agents cause infertility; offer fertility preservation before treatment; secondary malignancies are increased; structured late effects follow-up is essential.
SVCS = facial swelling + plethora + distended neck veins + dyspnoea from mediastinal mass - GA is extremely dangerous; keep upright; steroids for rapid tumour shrinkage; diagnose by least invasive method; T-ALL and lymphoma are commonest causes in children.
Perianal infection in neutropenia = NO digital rectal examination (risk of bacteraemia) - IV antibiotics with anaerobic cover; avoid surgery in neutropenia if possible; typhlitis (neutropenic enterocolitis) is another important mucosal complication; stool softeners and sitz baths for comfort.
TLS = hyperK + hyperPO4 + hyperuricaemia + hypoCa + AKI - occurs with rapid tumour lysis; prevention with hydration + rasburicase; treat hyperkalaemia urgently (peaked T waves = cardiac risk); haemodialysis if refractory; most common with high-burden ALL and Burkitt lymphoma.
Post-stroke SCD = lifelong chronic transfusion (HbS <30%) - 50% recurrence within 1 year without prevention; chelation for iron overload; consider HSCT for cure; monitor for silent cerebral infarcts; neurocognitive support essential.
Adolescent + painful bony swelling around the knee + sunburst/Codman triangle = osteosarcoma - refer urgently per NICE NG12; biopsy at the surgical centre; MAP chemotherapy and limb salvage; CT chest for pulmonary metastases; >90% necrosis is a good prognostic sign.
Raccoon eyes + proptosis + bone marrow rosettes = metastatic neuroblastoma - Homer Wright rosettes; stage M disease; bone is commonest metastatic site; unique features include OMS (paraneoplastic), Horner syndrome, and blueberry muffin nodules; MS stage in infants can regress spontaneously.
AML vs ALL - AML is less common (15-20%), more intensive treatment without maintenance, lower cure rate (~65-70% vs ~90%); chloromas and gum hypertrophy are AML-specific; APL (t(15;17)) is treated with ATRA + arsenic with >90% cure; DIC is common in APL.
Excessive cow's milk + poor diet + pica + microcytic anaemia = IDA - limit milk to 300-400 mL/day; ferritin is the best single test; treat with oral iron for 3 months after Hb normalises; recheck at 4-6 weeks.
Wilms tumour - 'do not palpate abdomen' sign; risk of tumour rupture upstages disease; SIOP = pre-op chemo then surgery; COG = surgery first; do NOT biopsy percutaneously; overall survival ~90%; bilateral disease requires nephron-sparing surgery.
Medulloblastoma = midline posterior fossa + fourth ventricle + small round blue cells + synaptophysin+ - most common malignant brain tumour in children; CSF dissemination; WNT subgroup has best prognosis; craniospinal irradiation + chemotherapy; avoid CSI in <3 years.
Chronic ITP = >12 months - 20% of childhood ITP; thrombopoietin agonists (eltrombopag, romiplostim) and rituximab are second-line; splenectomy is deferred in children (higher spontaneous remission rate); quality of life guides treatment decisions.
Hodgkin lymphoma = painless progressive lymphadenopathy + B symptoms + mediastinal mass - Reed-Sternberg cells (owl-eye); excisional biopsy essential; PET-CT for staging; cure rate >90%; nodular sclerosis is commonest subtype in adolescents.
Anthracycline cardiotoxicity = free radical damage to cardiomyocytes - cumulative and dose-related; cannot regenerate; can present decades later; monitor with serial echocardiography; dexrazoxane for cardioprotection; lifelong cardiac surveillance needed for all anthracycline-treated survivors.
Haemarthrosis in haemophilia = immediate factor replacement before investigation - 'treat first'; knee is the most common joint; prophylaxis with regular factor VIII or emicizumab prevents arthropathy; AVOID aspirin and NSAIDs.
Always review the blood film before diagnosing ITP - exclude leukaemia (blast cells), TTP/HUS (schistocytes), and pseudothrombocytopenia (platelet clumps); ITP is a diagnosis of exclusion; bone marrow biopsy if atypical features.
Chronic haemolysis → excess bilirubin → pigment (calcium bilirubinate) gallstones - common in SCD, thalassaemia, and HS; up to 30-50% of SCD patients by adolescence; laparoscopic cholecystectomy for symptomatic stones; distinguish from haemolysis-related jaundice by checking conjugated bilirubin.
Febrile neutropenia = emergency - IV antibiotics within 1 hour; blood cultures before antibiotics but do NOT delay; add antifungals if fever persists >48 hours; G-CSF for prolonged neutropenia; most common fatal outcome is gram-negative sepsis.
Leukocoria in an infant = retinoblastoma until proven otherwise - RB1 tumour suppressor gene; 40% heritable (bilateral, AD, ~90% penetrance); fundoscopy under GA for diagnosis; white reflex in photographs is a key parental observation; always check the red reflex at every newborn and infant health check.
L-asparaginase side effects = pancreatitis + thrombosis (reduced AT-III, protein C, S) + allergic reactions + hepatotoxicity - PEG-asparaginase is now standard; Erwinia asparaginase for E.
Chemotherapy parent education = fever ≥38°C = emergency; know the 24/7 oncology contact number; recognise infection, bleeding, and line complications; avoid live vaccines; chickenpox/measles exposure = seek urgent advice; written alert card for emergencies.
Vincristine = neurotoxic (peripheral and autonomic neuropathy) - constipation and ileus from autonomic dysfunction; ankle reflex loss is the earliest sign of peripheral neuropathy; maximum single dose capped at 2 mg; prophylactic laxatives from treatment start; VESICANT - avoid extravasation.
ALL = commonest childhood cancer - pancytopenia + blasts + hepatosplenomegaly + bone pain; peak age 2-5 years; B-ALL is commonest; risk stratification determines treatment intensity; ETV6-RUNX1 and high hyperdiploidy are favourable; overall cure rate ~90%.
Neuroblastoma = adrenal mass + crosses midline + calcification + elevated urine catecholamines - commonest extracranial solid tumour; neural crest origin; MYCN amplification = poor prognosis; 4S/MS stage in infants can regress spontaneously; treatment from observation to intensive multimodal therapy.
MYCN amplification = automatic high-risk - single most important adverse prognostic factor in neuroblastoma; present in ~20-25% of cases; drives aggressive biology; high-risk treatment includes intensive chemo → surgery → HDCT/AHSCR → radiation → immunotherapy; survival ~40-50% despite intensive treatment.
Mediastinal mass + very high WCC + blast cells = T-cell ALL - SVC syndrome is a medical emergency; avoid sedation and supine positioning; dexamethasone shrinks the mass; T-ALL = 15% of childhood ALL, older age, male predominance.
Painless testicular mass + elevated AFP/beta-hCG = germ cell tumour - inguinal orchidectomy (NOT trans-scrotal); BEP chemotherapy for advanced disease; AFP for yolk sac, beta-hCG for choriocarcinoma; sperm banking before treatment; prepubertal teratomas are usually benign.
Pancytopenia + hypocellular marrow = aplastic anaemia - always exclude Fanconi anaemia (chromosome breakage test) in children; matched sibling HSCT is the treatment of choice; immunosuppressive therapy (ATG + ciclosporin) if no donor; Fanconi = AR with limb and renal anomalies.
Factor VIII dose = desired rise (%) × weight (kg) × 0.5 - 1 unit/kg raises level by 2%; major surgery requires 80-100% levels initially; maintain levels with scheduled dosing until healed; always involve the haemophilia centre in surgical planning.
PJP breakthrough on prophylaxis = most likely non-compliance - co-trimoxazole is >90% effective when taken correctly; check medication adherence; treat active PJP with high-dose IV co-trimoxazole for 21 days; add steroids for severe hypoxia.
Auer rods = pathognomonic for AML - gum hypertrophy and leukaemia cutis are also characteristic; APL (M3, PML-RARA) = DIC + ATRA + arsenic trioxide = >90% cure; AML overall cure rate ~65-70%, worse than ALL (~90%).
Staging = determines extent of disease and guides treatment - different systems for different tumours; staging investigations include imaging, biopsy, marrow, markers, and CSF; accurate staging prevents under- or over-treatment; enables outcome comparison across centres and trials.
Oral mucositis = good oral care + analgesia + NG feeds if needed + antifungal/antiviral as indicated - peaks at 7-10 days; portal of entry for viridans streptococci during neutropenia; prevention with oral hygiene and cryotherapy; grade 3-4 requires opioid analgesia and NG nutrition.
Stage 4S/MS neuroblastoma = excellent prognosis (>90%) with potential spontaneous regression - infant <18 months, localised primary, mets to skin/liver/BM (<10%); observation often sufficient; intervene only for symptomatic disease; MYCN amplification is NOT a feature of typical 4S (CCLG/SIOPEN).
Heritable retinoblastoma = AD, ~90% penetrance, RB1 germline mutation - bilateral and early onset; Knudson's two-hit hypothesis; increased lifetime risk of secondary cancers (osteosarcoma, soft tissue sarcomas); screen siblings/offspring from birth; genetic testing guides family management.
Fever >38°C in SCD = emergency - IV antibiotics within 1 hour; blood cultures first but do NOT delay antibiotics; assess for SCD complications (ACS, sequestration); functional asplenia = high risk of overwhelming pneumococcal sepsis.
TLS = K↑ PO4↑ uric acid↑ Ca↓ + AKI - rasburicase is first-line for hyperuricaemia (not allopurinol in established TLS); aggressive IV hydration 3 L/m²/day; treat hyperkalaemia urgently; avoid IV calcium if phosphate is high; dialysis if refractory; high-risk: high WCC, Burkitt lymphoma.
Testicular relapse = sanctuary site (blood-testis barrier) - bilateral testicular radiotherapy + re-induction chemotherapy ± HSCT; causes infertility and testosterone deficiency; other sanctuary site = CNS; testis biopsy confirms diagnosis.
ITP with wet purpura = treat with IVIg (rapid response, 24-48 hours) or prednisolone (response in 3-5 days) - treatment based on bleeding symptoms, not platelet count; platelet transfusion only for life-threatening haemorrhage; anti-D is an alternative for Rh+ patients.
Hepatoblastoma = liver mass in an infant + markedly elevated AFP - most common paediatric liver malignancy; PRETEXT staging; cisplatin-based chemotherapy then surgery; liver transplant for unresectable; AFP for monitoring; associated with very low birth weight and FAP.
Mild haemophilia A bleeding = DDAVP first-line - releases endogenous factor VIII 3-5 fold; combine with tranexamic acid for mucosal bleeding; tachyphylaxis after 2-3 doses; monitor sodium (hyponatraemia risk); does NOT work for severe haemophilia A or haemophilia B.
Bilateral raccoon eyes in a child should prompt investigation for metastatic neuroblastoma - urinary catecholamines (VMA/HVA) are the key screening test, and MYCN amplification is the most important prognostic factor.
Alopecia areata presents with smooth, non-scarring hair loss patches with exclamation mark hairs - it is autoimmune, associated with thyroid and coeliac disease, and JAK inhibitors are emerging as effective treatments for severe cases.
Dactylitis (sausage digit) occurs in psoriatic arthritis and sickle cell disease - in psoriatic JIA it is a diagnostic criterion, while in sickle cell disease it may be the first clinical presentation in infants.
Cholestatic pruritus responds to ondansetron and naltrexone when conventional treatments fail - morphine can worsen pruritus, and a stepwise approach including ursodeoxycholic acid, cholestyramine, and rifampicin should be tried first.
CSCI via syringe driver is the gold standard for continuous medication delivery in community palliative care - multiple compatible drugs can be combined, and 24-hour infusions provide steady symptom control.
Lichen planus presents with the 5 Ps (Purple, Polygonal, Pruritic, Planar Papules) with Wickham striae - Koebner phenomenon and oral mucosal involvement are characteristic, and drug causes should be excluded.
Linear vesicles following plant contact indicate allergic contact dermatitis (phytodermatitis) - the linear pattern is a hallmark of external allergen contact, and patch testing identifies the specific allergen for avoidance counselling.
SSSS causes superficial epidermal cleavage with SPARED mucous membranes - this distinguishes it from TEN which involves mucosal erosions and deeper necrosis. IV flucloxacillin is the treatment, and prognosis in children is excellent.
Paediatric optic neuritis presents with acute visual loss, RAPD, and optic disc swelling - MRI is essential to assess for demyelination, and IV methylprednisolone is the standard treatment for moderate-severe cases.
IIH presents with headaches, visual obscurations, and papilloedema with normal imaging and raised CSF pressure - acetazolamide and weight loss are first-line treatments, and regular visual field monitoring is essential to detect progressive visual loss.
Erythema marginatum is annular with central clearing, evanescent, and a major Jones criterion for rheumatic fever - it is accentuated by warmth, appears on the trunk, and is highly specific for ARF.
Osteochondroma is the most common benign bone tumour, arising from the metaphysis and pointing away from the joint - malignant transformation risk is low (1%) but growth after skeletal maturity warrants investigation.
Herring C (lateral pillar <50%) has the worst prognosis in Perthes disease - age >8 and Herring C together strongly favour surgical containment to prevent coxa plana and premature osteoarthritis.
AVN is the most feared complication of SUFE, particularly in unstable slips - the crescent sign indicates subchondral fracture through necrotic bone, and aggressive manipulation increases AVN risk by damaging retinacular vessels.
High-potency cannabis significantly increases psychosis risk in adolescents, particularly in genetically vulnerable individuals - the developing brain is especially susceptible, and approximately 50% of cannabis-induced psychosis cases evolve into chronic psychotic disorders.
Floaters, flashes, and a 'curtain' visual field defect indicate retinal detachment - this is an emergency, particularly if the macula is still attached ('macula-on'), and high myopia is a significant risk factor.
Pseudosquint is an apparent squint with no true deviation on cover test - it is caused by epicanthic folds and flat nasal bridge, resolves with facial growth, but any suspected squint should be confirmed/excluded with a proper cover test.
Erythema multiforme presents with true target lesions (three concentric zones) on extremities - HSV is the most common trigger (>70%), while drugs cause more severe forms, and distinction from SJS requires assessment of mucosal involvement and skin detachment.
Psoriasis presents with well-demarcated silvery-scaled plaques on extensor surfaces with nail pitting - the Koebner phenomenon is characteristic, and guttate psoriasis in children often follows streptococcal infection.
JDM presents with proximal weakness plus heliotrope rash and Gottron papules - early aggressive treatment with steroids and methotrexate reduces the risk of calcinosis, which is the most significant long-term complication.
RF-positive polyarticular JIA mimics adult RA with symmetrical small joint erosive disease - early aggressive treatment with methotrexate and biologics is essential to prevent joint destruction.
Salmon patches are the most common vascular birthmark, present in up to 50% of newborns - facial patches ('angel kisses') fade by 1-2 years, nuchal patches ('stork bites') may persist but are covered by hair, and no treatment is needed.
Vernal keratoconjunctivitis presents with giant cobblestone papillae, ropy discharge, and seasonal pattern in atopic boys - corneal shield ulcers are a sight-threatening complication, and topical ciclosporin is the key steroid-sparing agent.
Gonococcal ophthalmia neonatorum presents at 2-5 days with hyperacute purulent discharge and gram-negative diplococci - it is an emergency requiring systemic ceftriaxone to prevent corneal perforation.
Annual visual assessment until age 7 is the screening standard for optic pathway glioma in NF1 - MRI is performed only when visual abnormalities are detected, not as routine screening.
Microsporum canis fluoresces green under Wood's lamp while T. tonsurans does not - tinea capitis requires systemic antifungal treatment, with griseofulvin preferred for Microsporum and terbinafine for Trichophyton species.
Parvovirus B19 causes 'slapped cheek' disease - the child is no longer infectious once the rash appears, but the virus is dangerous in pregnancy (hydrops fetalis) and in children with haemolytic anaemias (aplastic crisis).
Leucocoria requires urgent ophthalmological assessment to exclude retinoblastoma - the RB1 gene follows Knudson's two-hit hypothesis, and hereditary retinoblastoma carries lifelong risk of secondary malignancies.
Enthesitis causes pain at tendon insertions, especially the heel - bilateral heel pain with back stiffness and HLA-B27 positivity is classic for ERA, and anti-TNF biologics are effective for refractory enthesitis.
Personality disorder diagnosis in adolescents requires caution as personality is still developing - DBT-A is the evidence-based treatment for emerging EUPD/BPD in adolescents, and focusing on presenting difficulties rather than labels guides appropriate intervention.
Freckles darken in summer and fade in winter due to increased melanin production without melanocyte proliferation - they indicate sun sensitivity, and axillary freckling (Crowe sign) is a diagnostic criterion for NF1.
Behçet disease presents with the triad of oral ulcers, genital ulcers, and uveitis - ocular involvement can be sight-threatening, and pathergy (pustule at needle prick site) is a characteristic diagnostic test.
Intra-articular triamcinolone hexacetonide provides 4-12 months relief in JIA - it is first-line for oligoarticular disease, and recurrent need for injection should prompt initiation of systemic DMARD therapy.
Co-prescribe laxatives with ALL opioids from day one - opioid-induced constipation is the one side effect that does NOT develop tolerance, requiring a combination of softener plus stimulant laxative.
Manic episodes require elevated/irritable mood plus ≥3 symptoms for ≥7 days - atypical antipsychotics or mood stabilisers are first-line for acute mania, and antidepressants can precipitate mania in bipolar disorder.
Pseudomonas is the leading cause of contact lens-related keratitis and can perforate the cornea within 24-48 hours - corneal scraping before antibiotics, intensive topical fluoroquinolones, and Acanthamoeba keratitis should be considered with water exposure history.
Herpes zoster shows unilateral dermatomal vesicles from VZV reactivation - oral aciclovir within 72 hours reduces severity, ophthalmic zoster requires urgent eye review, and zoster in young children may warrant immunodeficiency screening.
Infantile haemangiomas appear after birth, proliferate for 6-12 months, then involute over years - oral propranolol is first-line treatment for complicated IH, replacing systemic steroids, and urgent referral is needed for periocular, airway, or large facial haemangiomas.
Eczema herpeticum is a dermatological emergency presenting with monomorphic punched-out erosions on eczematous skin - urgent IV aciclovir is needed, and periocular involvement requires immediate ophthalmology assessment.
Kasabach-Merritt phenomenon occurs with KHE (not infantile haemangiomas) - sirolimus is first-line treatment, platelet transfusions should be avoided unless life-threatening haemorrhage, and the consumptive coagulopathy is the life-threatening component.
Cradle cap is benign, non-itchy, and self-limiting - soften scales with emollient then gently remove, but consider LCH if the rash is refractory to standard treatment or associated with systemic symptoms.
SWS risk is primarily with V1 port-wine stain involvement - V2/V3 facial port-wine stains alone carry very low risk of CNS complications, and pulsed dye laser treatment can improve cosmetic outcomes.
Transient synovitis is the most common cause of acute hip pain in children - it is a diagnosis of exclusion requiring septic arthritis to be ruled out (Kocher criteria; NICE CKS on the acutely limping child), resolves within 7-10 days, and carries a small risk of subsequent Perthes disease.
Septo-optic dysplasia combines optic nerve hypoplasia, absent septum pellucidum, and pituitary dysfunction - cortisol deficiency must be urgently identified as it can cause life-threatening neonatal hypoglycaemia.
Paediatric palliative care focuses on quality of life through holistic symptom management and family support - it can be provided alongside curative treatment from diagnosis and is not limited to end-of-life care.
GnRH agonists reversibly suppress puberty, providing time for exploration - the Cass Review emphasises holistic, evidence-based care, and cross-sex hormones are a separate, partially irreversible step.
England has deemed consent for organ donation, but children are excluded and require parental consent - families are always consulted, and tissue donation may be possible even when organ donation is not.
Orbital cellulitis is distinguished from preseptal by proptosis, ophthalmoplegia, and visual impairment - urgent CT and IV antibiotics are needed, with surgical drainage for abscess formation or visual deterioration.
SUFE presents with hip, thigh, or KNEE pain in an overweight adolescent - always examine the hip when a child presents with knee pain, frog-leg lateral X-ray is diagnostic, and urgent surgical pinning prevents further slip and avascular necrosis.
Guttate psoriasis presents with small drop-shaped lesions following streptococcal pharyngitis - it often resolves within 3-4 months, but approximately 30% progress to chronic plaque psoriasis.
Periocular eczema herpeticum requires urgent ophthalmological assessment to exclude HSV keratitis - dendritic corneal ulcer is pathognomonic, and topical corticosteroids must be avoided as they worsen HSV keratitis.
Non-bullous impetigo presents with honey-coloured crusts caused by S. aureus - topical fusidic acid is first-line for localised disease, and children should be excluded from school for 48 hours after starting treatment.
Childhood SLE presents with multisystem disease, positive ANA/anti-dsDNA, and low complement - renal involvement determines long-term prognosis, and hydroxychloroquine is recommended for all patients.
DBT is the evidence-based therapy for recurrent self-harm with emotional dysregulation - comprehensive psychosocial assessment is essential for all presentations, and previous self-harm is the strongest predictor of future self-harm.
Total pain encompasses physical, psychological, social, and spiritual suffering - effective palliative care requires a multidisciplinary team addressing all four dimensions, as physical analgesia alone is insufficient.
Pityriasis alba causes poorly defined hypopigmented patches on the cheeks of children with eczema - it is benign and self-limiting, and the key distinction from vitiligo is that patches are hypopigmented (not depigmented) and poorly demarcated.
Erythema nodosum presents with tender shin nodules and is most commonly triggered by streptococcal infection in children - investigate for underlying causes including streptococcal infection, TB, sarcoidosis, and IBD.
Oligoarticular JIA presents with painless knee swelling in a young child with positive ANA - the main risks are leg length discrepancy and chronic anterior uveitis, which requires regular slit-lamp screening.
Haemophilia A causes haemarthrosis with prolonged APTT - prophylactic factor replacement from early childhood prevents joint destruction, and emicizumab has transformed management for patients with and without inhibitors.
Intermittent exotropia is common, worsens with fatigue, and usually preserves visual acuity - monitoring the frequency and quality of control guides the decision between observation and surgical intervention.
Osteochondritis dissecans causes osteochondral lesions of the medial femoral condyle - stable lesions in skeletally immature patients often heal conservatively, but unstable lesions with loose bodies require surgical fixation.
V1 port-wine stain requires MRI brain to assess for Sturge-Weber syndrome and ophthalmological assessment for glaucoma - it is present at birth, does not fade (unlike salmon patches), and darkens with age.
Congenital glaucoma presents with tearing, photophobia, and enlarged cloudy corneas (buphthalmos) - treatment is surgical (goniotomy/trabeculotomy), and Haab striae on the cornea are pathognomonic.
Pityriasis rosea presents with a herald patch followed by a 'Christmas tree' pattern of smaller lesions - it is self-limiting over 6-12 weeks, and the collarette of scale and Langer line distribution are key diagnostic features.
Septic arthritis needs minimum 3-4 weeks of antibiotics with early IV-to-oral switch - surgical washout is mandatory for the hip joint, and CRP guides treatment response.
Late-presenting DDH causes painless limp and limited abduction - early screening with NIPE and targeted ultrasound aims to detect DDH before walking age, when treatment with Pavlik harness is most effective.
Scabies presents with nocturnal itch, burrows in web spaces, and household contact symptoms - ALL household members must be treated simultaneously with permethrin, and post-treatment itch can persist for weeks due to ongoing hypersensitivity.
Mongolian blue spots are dermal melanocytosis on the lower back/buttocks, present in up to 90% of babies of Asian/African descent - they must be documented to avoid confusion with NAI, and they fade by age 4-6 years.
Simple corneal abrasions heal within 24-48 hours with topical chloramphenicol and analgesia - eye patches are no longer recommended, and urgent ophthalmological referral is needed for penetrating injuries, hyphaema, or reduced vision.
Congenital rubella syndrome presents with cataracts, cardiac defects (PDA), and deafness - MMR vaccination has virtually eliminated CRS in the UK, and early cataract surgery prevents deprivation amblyopia.
Gout in children is a red flag for underlying metabolic disease - Lesch-Nyhan syndrome (HGPRT deficiency) is the most important cause to exclude, and all paediatric gout requires investigation for secondary causes.
RSV causes ~75% of bronchiolitis - it is a paramyxovirus causing annual winter epidemics, and nearly all children are infected by age 2; strict infection control measures including hand hygiene and cohorting are essential.
ICS is long-term controller therapy, not a course of treatment - review regularly and step down gradually after 3 months of good control, but the underlying airway inflammation persists even when symptoms improve.
Episodic viral wheeze in preschool children is managed with intermittent SABA - it differs from atopic asthma and many children outgrow it; regular ICS is only considered if episodes are frequent or severe.
Nebulised adrenaline (0.5 mL/kg of 1:1000, max 5 mL) is the rescue treatment for severe croup - it provides rapid but temporary relief through mucosal vasoconstriction, and the child must be observed for at least 2-4 hours due to rebound risk.
IV salbutamol causes hypokalaemia through intracellular potassium shift - monitor potassium 2-4 hourly during continuous infusion and maintain continuous cardiac monitoring for arrhythmias.
Start regular low-dose ICS when a child uses SABA more than twice weekly or has nocturnal symptoms - this is BTS/SIGN Step 2, and ICS via MDI with spacer is the cornerstone of paediatric asthma prevention.
Severe paediatric asthma is defined by SpO2 <92%, inability to complete sentences, peak flow 33-50% predicted, and tachycardia/tachypnoea - escalate treatment promptly if features are present.
High fever with focal chest signs (bronchial breathing, decreased breath sounds) indicates bacterial pneumonia - amoxicillin is first-line for community-acquired pneumonia in children, as S. pneumoniae remains the most common pathogen.
PCP presents in HIV-positive infants with severe hypoxia disproportionate to chest signs and bilateral ground-glass CXR - treat urgently with high-dose IV co-trimoxazole plus corticosteroids, and prevent with co-trimoxazole prophylaxis.
Chronic cough with weight loss, night sweats, and hilar lymphadenopathy in a child from a TB-endemic area is pulmonary TB until proven otherwise - microbiological confirmation is essential but often difficult in paediatric TB.
The atopic march links eczema, food allergy, allergic rhinitis, and asthma through shared Th2 immune dysregulation - early atopic disease is a strong predictor of later asthma, and this understanding guides prevention and management strategies.
Very low nasal nitric oxide (<77 nL/min) is a screening marker for PCD - combined with chronic wet cough, sinusitis, and otitis media, it warrants referral for ciliary function analysis.
High-dose ICS (especially fluticasone ≥500 mcg/day) can suppress the HPA axis - children on high-dose ICS need steroid cards and sick-day rules, including parenteral hydrocortisone during intercurrent illness.
PERT must be taken with ALL meals and snacks, dose-adjusted to fat content - capsules should be swallowed whole or granules mixed with acidic food, and maximum dosing of 10,000 units/kg/day should not be exceeded.
Mycoplasma pneumoniae causes atypical pneumonia in school-age children - gradual onset, bilateral infiltrates, cold agglutinins, and the child may appear 'less unwell than the X-ray suggests'; treat with macrolide antibiotics.
Sweat chloride ≥60 mmol/L is diagnostic of CF, 30-59 mmol/L is borderline requiring further testing, and <30 mmol/L makes CF unlikely - ensure adequate sample volume and perform at an accredited centre.
Kaftrio combines two correctors (fix protein folding) with a potentiator (improve channel gating) - it has transformed CF outcomes for patients with F508del mutations, improving lung function, reducing exacerbations, and improving nutrition.
Dornase alfa cleaves neutrophil-derived extracellular DNA in CF sputum, reducing viscosity - it should be nebulised daily before airway clearance and improves both lung function and exacerbation rates.
Bacterial tracheitis is the important differential when croup deteriorates despite standard treatment - high fever, toxic appearance, and purulent tracheal secretions distinguish it from viral croup and it requires IV antibiotics and often intubation.
DIOS in CF is managed medically with gastrografin and PEG-based laxatives - surgery is reserved for complications or failed medical management; it is distinct from simple constipation and involves the terminal ileum/caecum.
LAIV (nasal spray) is safe and recommended for most children with asthma - switch to inactivated vaccine only for severe asthma (high-dose ICS/oral steroids) or active wheezing at the time of vaccination.
Elevated FeNO indicates eosinophilic airway inflammation responsive to ICS - in a symptomatic child on ICS, it supports increasing the steroid dose, whereas normal FeNO prompts consideration of alternative diagnoses or phenotypes.
Palivizumab provides passive immunity against RSV for high-risk infants - monthly IM injections during RSV season reduce hospitalisation by 55%, and eligibility includes premature infants with chronic lung disease and those with significant congenital heart disease.
MDI with spacer is the preferred delivery method for all children - assess technique at every visit, use one puff at a time, and wash spacers in detergent to reduce static charge.
Large septated parapneumonic effusions require chest drain insertion with intrapleural urokinase - this approach breaks down fibrin septations and improves drainage, reducing the need for surgical intervention.
Most preschool wheeze is episodic viral wheeze that resolves by school age - atopic features, interval symptoms, and multiple triggers increase the likelihood of persistent asthma, but diagnosis at this age requires longitudinal assessment.
Asthma diagnosis requires a compatible clinical history plus objective evidence of variable airflow obstruction - BTS/SIGN defines significant reversibility as ≥12% FEV1 improvement post-bronchodilator.
Tremor, tachycardia, and restlessness are expected dose-related side effects of nebulised salbutamol - monitor potassium levels with repeated dosing as hypokalaemia can cause cardiac arrhythmias.
IV magnesium sulphate for acute severe asthma is 40 mg/kg (max 2g) as a single dose over 20 minutes - it is safe, effective, and increasingly used as first-line IV therapy in paediatric acute asthma.
F508del is the most common CFTR mutation (70-80% of UK alleles) - it causes protein misfolding, and the triple combination Kaftrio (elexacaftor/tezacaftor/ivacaftor) has revolutionised treatment for patients carrying this mutation.
At BTS/SIGN Step 3, add a LABA to existing low-dose ICS - assess response and only increase ICS dose if LABA alone is insufficient, and never use LABA without concomitant ICS.
Excessive SABA use is the single most important warning sign for asthma death - the NRAD report identified ≥12 SABA canisters/year as a major mortality risk factor, and preventer non-adherence must be urgently addressed.
Allergen immunotherapy is for allergic asthma with confirmed sensitisation not controlled by standard treatment - it requires 3 years of treatment and should be managed in specialist centres.
Significant haemoptysis in CF requires IV antibiotics, withholding of physiotherapy on the affected side, and consideration of bronchial artery embolisation - it is often triggered by pulmonary exacerbation and can be life-threatening.
Croup presents with the classic triad of barking cough, stridor, and hoarseness with nocturnal worsening - oral dexamethasone is the treatment of choice for all severities, and the absence of drooling helps distinguish it from epiglottitis.
LABAs are safe WITH ICS but dangerous WITHOUT - the safety concern relates to LABA monotherapy, and combination inhalers ensure both components are always taken together.
≥3 SABA inhalers per year should trigger an urgent asthma review - the NRAD report linked excessive SABA prescribing with asthma deaths, making prescription monitoring a life-saving safety measure.
Bronchiolitis is a clinical diagnosis - coryzal prodrome, fine inspiratory crackles, and respiratory distress in an infant <12 months during winter strongly suggest RSV bronchiolitis.
Pre-exercise SABA 10-15 minutes before activity is the standard approach to EIB - persistent exercise symptoms despite adequate preventer therapy suggest suboptimal overall control requiring step-up.
Acute chest pain with hyperresonance and absent breath sounds in CF is pneumothorax - it occurs in advanced disease, may require chest drain and pleurodesis, and recurrent pneumothorax is a trigger for transplant referral.
Good asthma control means no symptoms, no rescue inhaler use, no exacerbations, no activity limitation, and normal lung function - anything less should prompt review of adherence, technique, and consideration of stepping up.
Recurrent croup (≥2 episodes/year) warrants ENT assessment with laryngoscopy to exclude structural subglottic pathology - particularly subglottic haemangioma in infants and subglottic stenosis in children with a history of intubation.
When inhaled bronchodilators fail in acute paediatric asthma, escalate to IV salbutamol or IV magnesium sulphate - both require cardiac monitoring, and the child should be in a high-dependency setting.
Morning dipping on PEF monitoring (diurnal variation >20%) indicates poorly controlled asthma - this pattern correlates with nocturnal symptoms and increased exacerbation risk, requiring treatment optimisation.
Vocal cord dysfunction mimics asthma but presents with inspiratory stridor, flattened inspiratory loop, normal spirometry, and poor response to bronchodilators - it is more common in adolescent girls and is treated with speech therapy, not asthma medication.
The 'united airway' concept links allergic rhinitis and asthma - treating rhinitis actively with intranasal steroids can improve asthma control, and rhinitis should be assessed at every asthma review.
Prednisolone 1-2 mg/kg (max 40 mg) for 3-5 days is the standard acute asthma course - give early, no tapering needed for short courses, and dexamethasone is an emerging single/two-dose alternative.
Epiglottitis is an airway emergency - do NOT examine the throat, keep the child calm, and call for urgent senior anaesthetic support; it is preventable through Hib vaccination.
Prematurity is the strongest risk factor for severe bronchiolitis - premature infants have smaller airways, immature immunity, and reduced maternal antibody protection, making them eligible for RSV prophylaxis with monoclonal antibodies.
Cyanotic episodes specifically during feeding with choking and coughing should raise suspicion of H-type tracheo-oesophageal fistula - this variant presents later than classical TOF and requires tube oesophagogram or bronchoscopy for diagnosis.
FEV1 <30% predicted is a key trigger for lung transplant referral in CF - other factors include rapid decline, frequent IV courses, massive haemoptysis, and oxygen dependency; CFTR modulators have reduced transplant need.
Unresolved tonsillitis with trismus, drooling, and stridor suggests peritonsillar abscess - look for uvular deviation and ipsilateral swelling, and manage with IV antibiotics and aspiration/drainage.
Step down by stopping the LABA first while maintaining ICS - never leave a child on LABA without ICS, and reduce treatment gradually with monitoring over at least 3 months of good control.
Every child with asthma needs a written personalised action plan - the NRAD report highlighted absence of PAAPs as a factor in asthma deaths, and they significantly reduce ED visits and admissions.
Unilateral wheeze in a young child is foreign body aspiration until proven otherwise - bilateral wheeze suggests asthma or viral wheeze, but asymmetric findings demand investigation with chest X-ray and bronchoscopy.
Cat allergen is a potent persistent indoor allergen - assess allergen sensitisation and environmental exposure at every asthma review, as uncontrolled exposure can cause treatment-resistant symptoms.
An obstructive pattern shows reduced FEV1/FVC ratio with relatively preserved FVC - in asthma, this should be at least partially reversible with bronchodilator, distinguishing it from fixed obstruction.
FeNO ≥35 ppb in children supports eosinophilic asthma - it can also monitor ICS adherence (high FeNO on ICS suggests non-adherence) and guide treatment decisions based on inflammatory phenotype.
LTRAs are add-on therapy at BTS/SIGN Steps 3-4 in children - they are most useful when LABA provides partial benefit, for exercise-induced symptoms, and in children with concurrent allergic rhinitis.
Ipratropium bromide blocks M3 muscarinic receptors, providing additional bronchodilation complementary to beta-2 agonists - it should be added in moderate-severe acute asthma but is not used for maintenance therapy.
Double aortic arch is the most common complete vascular ring - it encircles the trachea and oesophagus causing biphasic stridor and dysphagia; surgical division is curative.
Always check spacer and facemask technique before concluding an ICS trial has failed - poor technique is the most common cause of apparent treatment failure in young children, and lung drug delivery can be negligible with incorrect use.
Children with croup who respond well to dexamethasone can be discharged after 2-4 hours of observation - provide clear safety-netting advice about nocturnal worsening and indications for return.
Laryngomalacia is the most common cause of infantile stridor - it is inspiratory, positional (worse supine, better prone), and usually self-resolves by 12-24 months; flexible nasendoscopy confirms the diagnosis.
Chronic wet cough lasting more than 4 weeks in a preschool child without other features is most likely protracted bacterial bronchitis - treat with 2-4 weeks of amoxicillin-clavulanate and investigate further if it recurs frequently.
Monitor height annually in children on ICS - centile crossing warrants reassessment of the treatment regimen to ensure the lowest effective dose is used, though ICS should not be stopped abruptly.
Smoking reduces ICS effectiveness through steroid resistance and neutrophilic inflammation - smoking cessation is the single most important intervention for a smoking asthmatic, and every asthma review should include smoking status assessment.
Adolescent transition is a high-risk period for asthma - address adherence, smoking, self-management skills, and ensure a planned overlapping transition between paediatric and adult services to prevent loss to follow-up.
Bronchiolitis management is supportive - oxygen for SpO2 <92%, fluid support, and minimal handling; bronchodilators, steroids, antibiotics, and chest physiotherapy are NOT recommended by NICE.
Unilateral foul-smelling nasal discharge in a young child is a nasal foreign body until proven otherwise - button batteries are a time-critical emergency requiring immediate removal to prevent septal perforation.
Tension pneumothorax = clinical diagnosis + immediate needle decompression - do NOT wait for CXR; insert 14-16G cannula at 2nd ICS MCL; follow with formal chest drain; tracheal deviation + absent breath sounds + cardiovascular compromise is the classic triad.
Paroxysmal cough with whoop + post-tussive vomiting + lymphocytosis in an unvaccinated infant = pertussis - macrolide antibiotics reduce transmission but not symptom duration; complications include apnoea, seizures, and encephalopathy in young infants.
Cyclical cyanosis in a neonate relieved by crying + inability to pass bilateral nasal tubes = bilateral choanal atresia - insert oral airway for immediate management; evaluate for CHARGE syndrome.
CPAMs show cystic spaces lined by respiratory epithelium in abnormally organised lung tissue - Types 1-4 have different cyst sizes and malignant potential; Type 1 associates with mucinous adenocarcinoma, Type 4 with pleuropulmonary blastoma.
Intralobar sequestration shares pleura with normal lung, has systemic arterial supply, pulmonary venous drainage, and bronchial communication - it presents with recurrent lower lobe pneumonias; CT angiography identifies the anomalous feeding artery before surgery.
Persistent air leak >5-7 days suggests bronchopleural fistula - usually complicates necrotising pneumonia or empyema; manage conservatively initially (drainage + low suction); surgical repair for refractory cases.
Biphasic stridor from birth without intubation history suggests congenital subglottic stenosis - graded by Cotton-Myer system; mild cases improve with growth, while severe cases need surgical reconstruction; it is the third commonest congenital laryngeal anomaly.
MAC treatment continues for 12 months AFTER sputum culture conversion - total duration typically 18-24 months; the three-drug backbone is macrolide + ethambutol + rifampicin; monitor for drug toxicity throughout.
NEHI presents with persistent tachypnoea in a thriving infant - HRCT shows ground-glass opacification in the right middle lobe and lingula; prognosis is good with gradual improvement, and biopsy can usually be avoided when HRCT pattern is characteristic.
Maternal pertussis vaccination at 16-32 weeks in every pregnancy - provides transplacental protection until infant vaccination begins at 8 weeks; approximately 90% effective at preventing infant pertussis; recommended in every pregnancy regardless of previous vaccination.
RVRTC is the standard infant lung function technique - performed during sedated sleep using passive inflation followed by rapid thoracoabdominal compression; it provides flow-volume curves analogous to adult spirometry.
Sudden choking episode + persistent unilateral wheeze = foreign body aspiration - rigid bronchoscopy for diagnosis and removal; CXR may be normal in 25% of cases; the right bronchus is more commonly affected.
Septated parapneumonic effusion = empyema requiring IV antibiotics + chest drain + intrapleural urokinase - if drainage fails, VATS is the next step; Streptococcus pneumoniae is the most common causative organism.
Macrolides reduce bronchiectasis exacerbations through anti-inflammatory and immunomodulatory effects, not just antimicrobial action - check ECG, LFTs, and exclude NTM before starting; monitor for macrolide resistance (BTS 2019).
Think chILD when a young child has progressive tachypnoea, failure to thrive, hypoxia, and diffuse HRCT changes without infection - genetic testing for surfactant protein mutations should be considered before lung biopsy (BTS/ERS approach to paediatric diffuse parenchymal lung disease).
Subglottic haemangioma causes progressive stridor in infants <12 months - look for cutaneous haemangiomas in the beard distribution; oral propranolol is first-line treatment and has transformed outcomes.
Solitary pulmonary nodules in children are usually benign (CPAM, granuloma, hamartoma) - primary lung carcinoma is exceptionally rare; investigate and consider excision for definitive diagnosis.
Laryngomalacia is the commonest cause of infant stridor - inspiratory, worse with crying/supine, better prone; self-limiting by 12-18 months in most cases; supraglottoplasty for the 10-20% with severe symptoms.
PE in adolescents is rare but important - COCP is a significant risk factor; CTPA confirms the diagnosis; manage with anticoagulation; stop the COCP; screen for thrombophilia; treatment duration depends on provoked vs unprovoked.
Orange urine on rifampicin is normal and harmless - warn families before starting treatment to prevent non-adherence; the important side effects to monitor are hepatotoxicity (all drugs, especially pyrazinamide) and optic neuritis (ethambutol).
Isoniazid-resistant TB - drop isoniazid, extend treatment to 9-12 months with REZ ± fluoroquinolone; distinguish from MDR-TB (resistance to both isoniazid AND rifampicin) which requires a completely different approach; all isolates need drug susceptibility testing.
Complete tracheal rings create a circular tracheal lumen causing fixed stenosis - associated with pulmonary artery sling ('ring-sling complex') in 50% of cases; slide tracheoplasty is the definitive surgical treatment for severe cases.
Low nasal NO on two occasions warrants TEM and/or genetic testing for PCD - the ERS diagnostic algorithm uses multiple tests as no single test has 100% sensitivity; ~10-30% of confirmed PCD patients have normal TEM ultrastructure.
Annual ophthalmological screening (OCT + visual fields) is mandatory during long-term hydroxychloroquine - retinal toxicity causes irreversible 'bull's eye maculopathy'; screen annually after 5 years or earlier with risk factors.
Chronic Pseudomonas colonisation is the strongest modifiable predictor of lung function decline in bronchiectasis - aggressive eradication of initial isolation and suppressive therapy for chronic colonisation are key strategies to preserve lung function.
Fixed biphasic stridor with tracheal compression at the aortic arch level suggests vascular ring - CT/MR angiography confirms the diagnosis; surgical division provides definitive relief; double aortic arch is the most common symptomatic type.
PCD has a slower lung function decline than CF (~0.5-1% vs 1-3% FEV1/year) - most patients maintain reasonable function into adulthood with good management; early diagnosis, regular physiotherapy, and specialist care optimise outcomes.
Exercise challenge test with 6-8 minutes of vigorous exercise and serial spirometry diagnoses EIB - a fall in FEV1 ≥10-15% is positive; pre-exercise salbutamol and adequate warm-up are the key management strategies.
Symptomatic CPAMs require surgical resection - even asymptomatic CPAMs are often electively resected between 3-12 months due to infection and malignancy risk; CT is essential as CXR may underestimate lesion size.
Primary spontaneous pneumothorax >2 cm - aspirate first (successful in 50-70%); insert chest drain only if aspiration fails; recurrence rate is 30-50%; surgical pleurodesis for recurrent episodes.
LTBI = positive Mantoux/IGRA + normal CXR + no symptoms - treat with 3 months isoniazid + rifampicin to prevent progression; children under 5 are at highest risk and should start preventive treatment immediately after exposure.
VATS is the next step when empyema fails medical management - it is preferred over open thoracotomy due to shorter recovery; paediatric empyema outcomes are excellent regardless of treatment pathway.
TB meningitis requires 12 months of treatment (not 6) PLUS adjunctive corticosteroids for 4-8 weeks - dexamethasone reduces mortality by ~30%; isoniazid and pyrazinamide have the best CSF penetration.
Consolidation + air-fluid level + pneumothorax = necrotising pneumonia with bronchopleural fistula - consider PVL S. aureus; manage with anti-staphylococcal antibiotics and chest drainage; persistent air leak may need surgical repair.
Pertussis isolation = 48 hours on antibiotics or 21 days without - pertussis is notifiable; chemoprophylaxis for vulnerable contacts (infants, unimmunised, late pregnancy); vaccine immunity wanes over 5-10 years.
Venous drainage distinguishes ILS (pulmonary veins) from ELS (systemic veins) - CT angiography is essential for preoperative planning; ILS presents with recurrent infections while ELS is often found incidentally; always identify all feeding vessels before surgery.
Treat new Pseudomonas in PCD with eradication therapy (nebulised tobramycin/colistin ± oral ciprofloxacin) - early eradication prevents chronic colonisation and slows lung function decline; manage similarly to CF microbiology.
Elevated FeNO (>35 ppb in children) indicates eosinophilic airway inflammation - it predicts steroid responsiveness and supports asthma diagnosis; use it alongside clinical assessment and spirometry, not in isolation.
Nebulised tobramycin (28 days on/28 days off) or colistin for chronic Pseudomonas - first dose supervised with spirometry; monitor hearing and renal function annually; aim to reduce exacerbations and slow lung function decline.
Pertussis is most dangerous in infants <3 months - apnoea, seizures, and hyperleukocytosis-related pulmonary hypertension cause deaths; maternal vaccination in pregnancy provides crucial protection before infant vaccination begins.
Macrolides (azithromycin preferred) are the treatment for pertussis - most effective in the catarrhal phase; still given in the paroxysmal phase to reduce transmission; post-exposure prophylaxis for vulnerable contacts; pertussis is notifiable.
OME affects >85% of PCD patients due to impaired middle ear mucociliary clearance - hearing aids are often preferred over grommets (which carry high otorrhoea risk in PCD); regular audiology and speech/language monitoring is essential.
NIV during sleep is indicated for DMD with nocturnal hypoventilation - never give oxygen alone as it worsens hypercapnia; cough augmentation is equally important; regular FVC monitoring from age 10 detects decline early.
Obstructive pattern = low FEV1/FVC ratio (<0.80 in children) with disproportionately reduced FEV1 relative to FVC; always perform bronchodilator reversibility testing to distinguish fixed from reversible obstruction.
Recurrent RML collapse/bronchiectasis = middle lobe syndrome - the anatomy of the RML bronchus (long, narrow, acute angle) predisposes to obstruction; bronchoscopy excludes foreign body and endobronchial pathology.
Extralobar sequestration has its own pleural covering, systemic arterial supply, and no bronchial connection - it differs from intralobar sequestration which shares pleura with normal lung; associated anomalies are common in ELS.
Air-fluid level within a round lung opacity = lung abscess - most paediatric cases resolve with prolonged IV antibiotics (3-4 weeks); drainage is reserved for failures; distinguish from empyema with bronchopleural fistula on CT.
The safe triangle for chest drain insertion is between pectoralis major anteriorly, latissimus dorsi posteriorly, axilla superiorly, and 5th ICS inferiorly - insert above the rib to avoid the neurovascular bundle; ultrasound guidance reduces complications.
A normal CXR does NOT exclude foreign body aspiration - if the clinical history is suggestive (sudden choking + persistent unilateral symptoms), proceed to rigid bronchoscopy; 25% of foreign body aspirations have normal CXR.
Three early morning gastric aspirates for AFB smear, culture, and GeneXpert - collect before the child wakes via NG tube; microbiological confirmation only in 30-50% of childhood TB; GeneXpert provides rapid TB detection and rifampicin resistance within 2 hours.
Standard paediatric TB treatment = 2HRZE/4HR (2 months of four drugs, then 4 months of two drugs) - higher per-kg doses than adults; give pyridoxine with isoniazid; TB meningitis needs 12 months plus steroids.
Varicose bronchiectasis shows irregular beaded dilatation - it is intermediate severity between cylindrical (mild) and cystic (severe); the 'signet ring sign' (bronchus larger than adjacent artery) is the key CT diagnostic feature of bronchiectasis.
50% of PCD patients have situs inversus (Kartagener syndrome) due to random laterality determination when nodal cilia are dysfunctional - an additional 6-12% have situs ambiguus with potential complex cardiac anomalies; all need echocardiography at diagnosis.
IOS/FOT allows lung function assessment in preschool children during tidal breathing - R5 measures total resistance, R20 central resistance, and R5-R20 peripheral airway obstruction; no forced manoeuvres required.
Airway clearance and prompt antibiotic treatment are the cornerstones of bronchiectasis management - break the vicious cycle of infection, inflammation, and airway damage; investigate and treat underlying causes.
PSG is gold standard for paediatric OSA; overnight oximetry is a useful screen but cannot exclude OSA; children with Down syndrome should be assessed by age 4-5 (DSMIG-UK; NICE NG202).
Tall stature + arachnodactyly + pectus + superotemporal lens subluxation + pneumothorax = Marfan syndrome - FBN1 mutation; also screen for aortic root dilatation; distinguishing lens subluxation direction from homocystinuria (inferonasal) is a classic exam pearl.
ABCA3 mutations cause variable disease - severe null mutations present neonatally and may need transplant, while milder variants have a more chronic course; ABCA3 is the most common genetic cause of surfactant dysfunction in children.
Post-infectious OB follows severe bronchiolitis (especially adenovirus) - CT shows mosaic attenuation with air trapping; fixed obstruction unresponsive to bronchodilators distinguishes it from asthma; treatment is supportive.
Extreme lymphocytosis in pertussis causes pulmonary hypertension via leukostasis and microthrombi - WCC >100 × 10⁹/L is the critical threshold; exchange transfusion may be needed; mortality is high despite intervention.
Window prophylaxis - start isoniazid immediately in children <5 who are close TB contacts, even with negative Mantoux, as the immune response takes 6-8 weeks to develop; repeat Mantoux at 6 weeks to determine if treatment should continue.
Recurrent ipsilateral pneumothorax (second episode) → VATS bullectomy and pleurodesis - this reduces recurrence from 50-80% to 1-5%; advise permanent avoidance of scuba diving and avoid flying until radiographic resolution.
Children with severe OSA are at high risk of post-operative respiratory compromise after adenotonsillectomy - altered chemoreceptor sensitivity increases susceptibility to opioids; monitor with continuous oximetry for 24+ hours in high-dependency setting.
PCV13 prevents many cases of pneumococcal pneumonia and empyema - but serotype replacement means empyema still occurs from non-vaccine serotypes; serotype 3 has lower vaccine effectiveness despite inclusion in PCV13.
PCD causes female subfertility (impaired tubal cilia) with increased ectopic pregnancy risk, and male infertility (immotile sperm) - discuss reproductive implications during transition; ICSI can help affected males achieve fatherhood.
Paradoxical enlargement of TB lymph nodes during effective treatment is common (10-25%) - it reflects immune recovery, not treatment failure; continue treatment and reassure; corticosteroids may be needed for severe reactions.
Normal total immunoglobulins do not exclude immunodeficiency - check specific antibody responses, IgG subclasses, and lymphocyte subsets; investigate systematically for CF, PCD, immunodeficiency, aspiration, and ABPA; 30-50% remain idiopathic.
Miliary TB shows diffuse 1-3 mm nodules on CXR (millet seeds) from haematogenous dissemination - always exclude TB meningitis with LP; highest risk in children under 2 and immunocompromised; BCG reduces disseminated TB risk by ~80%.
Flattened inspiratory limb = variable extrathoracic obstruction; flattened expiratory limb = variable intrathoracic obstruction; both limbs flattened = fixed obstruction - the flow-volume loop pattern localises the site of obstruction.
Start with Mantoux/IGRA for suspected childhood TB - children are usually sputum-negative; use gastric aspirates or induced sputum for microbiological confirmation; always notify Public Health.
Pulmonary haemosiderosis triad = haemoptysis + iron deficiency anaemia + pulmonary infiltrates - always screen for coeliac disease (Lane-Hamilton syndrome) and vasculitis; haemosiderin-laden macrophages on BAL confirm alveolar haemorrhage.
Familial short stature = consistent centile tracking + normal growth velocity + bone age = chronological age + short parents - calculate MPH to confirm height is within target range; declining growth velocity is the most important red flag for pathological short stature.
Complex febrile convulsion = investigate with bloods, consider LP (especially <18 months or drowsy), and consider neuroimaging if focal - threshold for LP should be low in children under 18 months where meningism signs are unreliable.
Paediatric poisoning = ABCDE + identify toxin + contact NPIS/Toxbase - no universal antidote exists; activated charcoal is useful for many substances within 1 hour but not all; know specific antidotes (NAC for paracetamol, naloxone for opioids, desferrioxamine for iron).
Bulging fontanelle + mottled skin + altered consciousness in a febrile infant = meningitis until proven otherwise - give IV antibiotics immediately; dexamethasone alongside first antibiotic dose reduces complications in bacterial meningitis.
GCS = Eye (4) + Verbal (5) + Motor (6) = max 15, min 3 - GCS ≤8 requires intubation; AVPU for rapid assessment; this child scores E3+V2+M4 = 9 (moderate head injury); monitor closely for deterioration.
Rapidly increasing head circumference + bulging fontanelle + sunsetting eyes = hydrocephalus - urgent imaging required; treatment is VP shunt or ETV; VP shunt infection and blockage are common complications requiring awareness.
MDMA toxicity = serotonin syndrome with hyperthermia - aggressive cooling and benzodiazepines are key; beware hyponatraemia (ADH effect + excess water intake); rhabdomyolysis, DIC, and multi-organ failure are the lethal complications.
Suspected meningococcal disease in the community = IM benzylpenicillin BEFORE transfer - do not delay for IV access; dose by age (600 mg for 1-9 years); give even if penicillin allergic (unless anaphylaxis history); notify Public Health.
Burns first aid = cool running water (15-20°C) for 20 minutes within 3 hours - use Lund and Browder for TBSA assessment in children; >10% TBSA needs IV fluids (Parkland formula); refer >5% TBSA, full-thickness, or special areas to burns unit.
Imaging after paediatric UTI depends on age and UTI features - under 6 months always get at least ultrasound; atypical UTIs need ultrasound + DMSA + MCUG; DMSA is performed 4-6 months later to detect scarring.
AHT triad = subdural haemorrhages + retinal haemorrhages + encephalopathy - mechanism typically inconsistent with findings; leading cause of death from child abuse; exclude coagulopathy and metabolic conditions; skeletal survey + repeat at 2 weeks is mandatory.
Defer live vaccines for 11 months after high-dose IVIG (2 g/kg) - IVIG antibodies neutralise live vaccine viruses; inactivated vaccines can be given at any time; document the deferred schedule and inform the immunisation team.
Parvovirus B19 in pregnancy can cause fetal hydrops from severe anaemia - check maternal IgG/IgM; children with slapped cheek rash are no longer infectious once the rash appears and do not need school exclusion.
Oesophageal coins in asymptomatic children - observe 24 hours; 60-70% pass spontaneously; endoscopic removal if still oesophageal at 24 hours or symptomatic; contrast with button batteries which need emergency removal within 2 hours.
Unilateral dilated pupil after head trauma = uncal herniation until proven otherwise - emergency CT head and neurosurgical referral; extradural haematoma has a 'lucid interval' and is a treatable neurosurgical emergency.
Incomplete Kawasaki disease has fewer than 4 classic features but should be treated identically with IVIG and aspirin - consider it in any child with prolonged unexplained fever and raised inflammatory markers; echocardiography is crucial for diagnosis.
Adrenaline auto-injector goes in the anterolateral mid-thigh - can be given through clothing; always prescribe TWO devices; train parents, carers, and school staff; 150 mcg for 7.5-25 kg, 300 mcg for >25 kg.
Large head tracking along a high centile + normal development + family history of large heads = familial macrocephaly - benign and requires no investigation; red flags are crossing centiles upwards, bulging fontanelle, sunsetting eyes, and developmental delay.
DKA rehydration over 48 hours (BSPED) - slow rehydration reduces cerebral oedema risk; insulin started 1-2 hours after fluids; no IV bicarbonate; add glucose to fluids when blood glucose reaches 14 mmol/L; add potassium once confirmed <5.5.
Pulse oximetry screening: >3% pre-post ductal difference or any saturation <95% is abnormal - suggests duct-dependent cardiac lesion or PPHN; measure right hand (pre-ductal) and foot (post-ductal); urgent echo needed; consider prostaglandin.
Long QT syndrome is usually autosomal dominant - screen all first-degree relatives with ECG and genetic testing; some SIDS cases may be due to undiagnosed LQTS; beta-blockers are first-line treatment; avoid QT-prolonging drugs.
Superficial partial-thickness = red + blisters + very painful + blanches - heals in 14 days; burn depth may convert over 48-72 hours; scalds are the commonest burn in children; laser Doppler at 48-72 hours improves depth assessment accuracy.
Petechiae above the nipple line in a well child = likely mechanical cause from coughing/vomiting - but must observe for 4 hours and check FBC/CRP; petechiae below the nipple line or in an unwell child = treat as meningococcal disease.
8 weeks = 6-in-1 + rotavirus + MenB - give prophylactic paracetamol after MenB at 8 and 16 weeks; the UK schedule is regularly updated so always check the current Green Book for the latest recommendations.
Chickenpox = crops of lesions at different stages (papules, vesicles, crusts) with centripetal distribution - avoid ibuprofen and aspirin; aciclovir is reserved for immunocompromised or severe cases; exclude from school until all lesions crusted.
HSP = palpable purpura + abdominal pain + arthralgia + renal involvement - platelet count is NORMAL (differentiates from ITP); monitor urine and BP for at least 12 months; intussusception is the most important abdominal surgical complication.
Rubella = fine rash lasting 3 days + postauricular lymphadenopathy + mild arthralgia - the disease is mild in children but devastating in early pregnancy (CRS); MMR vaccination is the key preventive measure.
Iron poisoning antidote = desferrioxamine (iron chelator) - toxic dose ≥20 mg/kg elemental iron; beware the deceptive latent phase; activated charcoal does not bind iron; abdominal X-ray shows radiopaque tablets.
Severe DKA = pH <7.1 or bicarbonate <5 - manage with slow rehydration over 48 hours and low-dose insulin infusion (0.05-0.1 units/kg/hr); cerebral oedema is the most feared complication; do NOT give bolus insulin.
Paediatric BLS by healthcare professionals = 15:2 with 5 initial rescue breaths (Resuscitation Council UK 2021) - reflects predominantly respiratory aetiology of paediatric arrest; neonatal resuscitation uses 3:1; lay rescuers use 30:2.
Severe digoxin toxicity = DigiFab/Digibind; NEVER give IV calcium (risk of 'stone heart'); digoxin causes almost any arrhythmia; hypokalaemia increases toxicity; haemodialysis is ineffective due to large volume of distribution.
Caustic ingestion = NO vomiting, NO activated charcoal, NO neutralisation - ABCDE first, contact NPIS, keep NBM, arrange endoscopy within 12-24 hours; alkalis cause deeper injury (liquefactive necrosis) than acids.
ALL febrile neonates (<28 days) with temperature ≥38°C need full septic screen including LP and empirical IV antibiotics - clinical appearance is unreliable for excluding serious infection in this age group; cover Listeria with amoxicillin in addition to cefotaxime.
Low-grade VUR (I-III) usually resolves spontaneously - manage with prophylactic antibiotics and surveillance; surgery is reserved for high-grade VUR, breakthrough febrile UTIs despite prophylaxis, or progressive renal scarring.
Tinea corporis = annular lesion with central clearing and scaly raised border - diagnose with skin scrapings from the active edge; treat with topical clotrimazole/terbinafine; no school exclusion once treatment started.
Proteus mirabilis produces urease, alkalinising urine and causing struvite stones - Proteus UTI is classified as atypical by NICE (non-E. coli); investigate for structural abnormalities; treat infection and consider stone management.
Tachycardia is the earliest sign of paediatric shock - hypotension is a LATE, pre-terminal sign; children compensate by increasing heart rate before blood pressure drops; always assess heart rate, CRT, perfusion, and mental status together.
Silent chest in acute asthma = life-threatening, pre-terminal sign - after salbutamol, ipratropium, steroids, and magnesium, escalate to IV aminophylline and prepare for intubation; involve PICU early; ketamine is the preferred induction agent.
Ramadan fasting with type 1 diabetes = possible but requires careful pre-Ramadan planning - risk stratify, adjust insulin, monitor frequently, and establish clear 'break the fast' rules; children with unstable diabetes should not fast.
Opioid poisoning in children = respiratory depression is the killer; naloxone is the antidote; methadone outlasts naloxone - observe for at least 12-24 hours; even small volumes of methadone can be lethal in toddlers; always consider safeguarding.
Spastic diplegia = lower limb spasticity + scissoring + brisk reflexes - commonest CP type in prematurity due to PVL; classify by motor type and topography; assess for comorbidities including epilepsy, visual impairment, and learning disability.
Complex febrile convulsion = focal, ≥15 min, repeated in 24 hrs, or focal post-ictal signs - higher epilepsy risk (4-12%); requires more thorough investigation than simple febrile seizures; consider LP if clinical concern.
Egg allergy is NOT a contraindication to any routine UK childhood vaccine - MMR and LAIV are safe in egg-allergic children; yellow fever vaccine is the only vaccine requiring caution; do not delay or withhold routine immunisations due to egg allergy.
Low C3 + haematuria = nephritic (think PSGN); normal C3 + heavy proteinuria + low albumin = nephrotic (think minimal change) - complement levels and urinary sediment are key differentiators between nephritic and nephrotic syndromes.
Undescended testes - recheck at 6-8 weeks; refer by 6 months if still undescended; orchidopexy by 12 months - earlier surgery improves fertility; bilateral undescended testes = consider DSD and check karyotype.
Button battery in oesophagus = 2-hour emergency - causes liquefactive necrosis by electrolysis; give honey while awaiting removal; can cause fatal aorto-oesophageal fistula; 20 mm lithium cells are most dangerous.
Status epilepticus without IV access = buccal midazolam (preferred) or rectal diazepam first; maximum 2 benzodiazepine doses then second-line AED (NICE NG217); RSI and PICU at 45 minutes.
Drowning = respiratory emergency - 5 rescue breaths are the priority; CPR ratio 15:2 in children; hypothermia can be neuroprotective so continue resuscitation; observe all submersion victims for ≥6 hours for delayed pulmonary oedema.
Classic metaphyseal lesions and posterior rib fractures are most specific for NAI - skeletal survey is mandatory in suspected NAI in children under 2; repeat at 11-14 days detects healing fractures; multiple fractures at different stages = NAI until proven otherwise.
IM adrenaline doses - <6 years: 150 μg; 6-12 years: 300 μg; >12 years: 500 μg - always IM into anterolateral thigh; can repeat every 5 minutes; observe 6-12 hours for biphasic reaction; prescribe auto-injector and refer to allergy clinic.
All submersion incidents need ≥4-6 hours observation - delayed pulmonary oedema can develop hours later; initial CXR may be normal; discharge only if asymptomatic after observation period; drowning prevention counselling is vital.
Global developmental delay = significant delay in ≥2 domains - investigate with chromosomal microarray (first-line genetic test), metabolic screen, CK (boys), MRI brain, and hearing/vision; genetic causes are most common.
Simple febrile convulsion = generalised, <15 min, single in 24 hrs, age 6 months-6 years - no routine investigations needed; recurrence risk ~30%; epilepsy risk only slightly increased (2-4%); antipyretics do NOT prevent febrile seizures.
VUR is graded I-V based on degree of reflux, dilatation, and tortuosity - grades I-III often resolve spontaneously with conservative management; grades IV-V may require surgical correction to prevent ongoing renal damage.
Scabies = burrows + nocturnal itch + household contacts affected - treat ALL contacts simultaneously with permethrin 5%; repeat after 7 days; itching can persist for weeks after successful treatment due to hypersensitivity.
Submersion duration + time to CPR = most important prognostic factors in drowning - submersion >10 minutes carries poor neurological prognosis; do not prognosticate in the first 72 hours; cold water may be neuroprotective in young children.
Febrile convulsions are NOT a contraindication to vaccination - proceed with the full schedule; true contraindications are anaphylaxis to a previous dose, severe immunodeficiency (for live vaccines), and acute severe illness; never miss a vaccination opportunity.
Negative nitrites do not exclude UTI - always send urine MC&S when clinical suspicion is present; start empirical antibiotics while awaiting culture; NICE recommends trimethoprim or nitrofurantoin for uncomplicated lower UTI.
Regressed coronary aneurysms in Kawasaki disease still carry long-term cardiovascular risk - follow-up at 1-2 years is recommended as vessel walls may have persistent intimal changes; AHA risk stratification guides the intensity of long-term surveillance.
APLS weight estimation for 1-5 years = (age + 4) × 2 - use only when actual weight is unknown; Broselow tape is more accurate; always prefer actual recorded weight if available; formulas may underestimate in obese children.
Weaning at around 6 months, never before 17 weeks - introduce allergens from 6 months; iron-rich foods early; no honey before 12 months; no whole nuts before 5 years; variety of textures from the start.
MMR at 12 months and 3 years 4 months - live vaccine, contraindicated in severe immunodeficiency and pregnancy; defer 11 months after IVIG; MMR does NOT cause autism; two doses achieve >99% protection.
Expressive language delay with intact social communication and understanding = usually benign - but always exclude hearing impairment; expected 50+ words at 2 years; monitor for ASD features; speech and language therapy may be beneficial.
Independent dressing by 4-5 years - progression from removing clothing (18 months) to putting on simple items (3 years) to full independence (4-5 years); delays may indicate motor or cognitive difficulties; encourage practice and allow extra time.
Obese + short = endocrine/genetic cause - investigate with TFTs, cortisol, IGF-1, and genetic testing; simple obesity produces TALL stature; obesity + short stature is a red flag that should never be attributed to lifestyle alone.
Caustic ingestion = NEVER induce vomiting or give charcoal - small sips of water/milk only; absence of oral burns does NOT exclude oesophageal injury; endoscopy within 24-48 hours; alkalis cause deeper injury than acids.
ASD = deficits in social communication + restricted/repetitive behaviours - refer for formal multidisciplinary assessment (ADOS-2); always exclude hearing impairment; early intervention improves outcomes; NICE recommends structured assessment by the autism team.
Frozen watchfulness = hypervigilant, still, anxious child monitoring adults - strongly suggests physical/emotional abuse; abuse types commonly coexist; all professionals have a safeguarding duty; poor weight gain + inconsistent injuries + fearful behaviour = high concern.
Always perform the glass test on a febrile child with a rash - non-blanching rash + fever = meningococcal disease until proven otherwise, requiring immediate antibiotics and investigation.
Emergency seizure management at home follows the child's individualised care plan - some plans allow a second buccal midazolam dose at 10 minutes; always call 999 if the seizure continues; ensure parents, carers, and school staff are trained.
Down syndrome = trisomy 21 with characteristic dysmorphic features + AVSD (most common associated CHD) - annual TFTs, hearing, and vision checks are essential; 40-fold increased risk of leukaemia; AVSD is present in ~40% with cardiac anomalies.
WHO 5 Moments = before touching patient, before clean procedure, after body fluid risk, after touching patient, after touching surroundings - single most important infection prevention measure; alcohol rub preferred (except C.
DNACPR = clinical decision, not family request - futile treatment need not be provided; BUT open discussion with family is essential; senior clinician decision; well-documented; reviewed regularly; court as last resort for disputes; RCPCH framework guides paediatric end-of-life decisions.
'TEN-4' - Torso, Ears, Neck bruises at any age, or ANY bruise under 4 months = high suspicion for NAI; bruise colour does NOT reliably date the injury; always exclude coagulopathy; 'those who don't cruise, rarely bruise'; inadequate explanation is a key red flag.
CMLs (corner/bucket-handle fractures) = HIGHLY SPECIFIC for NAI - caused by shearing/twisting forces; often occult (found on skeletal survey); cannot be caused by falls, CPR, or normal handling; distal tibia, proximal tibia, distal femur most common; mandatory safeguarding referral; exclude metabolic bone disease and OI.
DV = children are victims, NOT just witnesses (Domestic Abuse Act 2021) - emotional abuse category; MARAC for high-risk cases; safeguarding referral for the child; ask about DV routinely in a safe setting; pregnancy is a high-risk period; children at increased risk of ALL forms of maltreatment.
Clinical ethics committee = advisory, not binding - for ethically complex cases, disagreements, end-of-life decisions; multi-disciplinary composition; separate from research ethics; does not replace the court; provides structured ethical analysis; available in most large NHS trusts.
Fraser guidelines = specific criteria for contraception in under-16s - must meet ALL criteria; Gillick = broader consent capacity concept; under-13 sexual activity ALWAYS raises safeguarding concerns; assess for exploitation and coercion in all cases; confidentiality should be maintained if criteria met.
CSPR = learning, not blame - examines how agencies worked together; commissioned by safeguarding partnership; rapid review within 15 days; local and national review options; recommendations must drive improvement; replaced SCRs from 2019; child's voice central.
Disguised compliance = appearance of cooperation without meaningful change - surface engagement masks ongoing risk; common SCR finding; combat with: focus on sustained outcomes, unannounced visits, listen to the child, triangulate information, 'support AND challenge'; the 'rule of optimism' is closely related.
Posterior rib fractures = highly specific for NAI (squeezing) - rarely caused by CPR, accidents, or normal handling; often occult on initial X-ray (repeat at 11-14 days); exclude OI and metabolic bone disease; multiple fractures at different stages = high specificity for abuse.
Torn frenulum in a non-ambulant infant = highly suspicious for NAI (forced feeding/blow to mouth); palatal petechiae may indicate suffocation; assess history vs developmental stage; mouth involved in ~50% of physical abuse; do NOT dismiss intra-oral injuries without proper assessment.
Unexpected child death = joint agency response - coroner, police, paediatric assessment, strategy meeting, CDOP review; ALL child deaths reviewed by CDOP; Kennedy Protocol for SUDI; multi-agency investigation is automatic; CDOP identifies modifiable factors and preventable deaths; Working Together 2018 provides the framework.
FII = fabricated or induced illness - previously MSBP; spectrum from fabrication to induction; child harmed by both fabrication AND unnecessary medical procedures; warning signs: symptoms only when parent present, normal investigations, doctor addiction; multi-agency investigation essential.
Sexualised behaviour + withdrawal + UTIs + secondary enuresis = consider sexual abuse - no physical findings does NOT exclude abuse; pattern recognition is key; many children never disclose; safeguarding referral based on concern, not proof; each indicator alone may be innocent but the pattern is concerning.
Named doctor = organisational safeguarding resource - advice, support, training, quality assurance; does NOT replace individual professionals' responsibilities; every NHS trust must have named doctor and nurse; designated doctor = strategic role across the local area; all roles mandated by Section 11, Children Act 2004.
Subdural + retinal haemorrhages + encephalopathy in an infant = AHT until proven otherwise - leading cause of death from physical abuse; multilayered/peripheral retinal haemorrhages are highly specific; skeletal survey (30% have associated fractures); exclude coagulopathy and GA1.
Court reports - duty to the COURT, not the instructing party; distinguish fact from opinion; balanced differential diagnosis; acknowledge uncertainty; comply with FPR Part 25; express likelihood (balance of probabilities for family court); 'consistent with' rather than absolute statements.
WHO Surgical Checklist = Sign In, Time Out, Sign Out - 47% mortality reduction (Haynes 2009); applies to all surgery including paediatric; addresses wrong-site surgery, retained items, communication; standardised process + team communication = fewer errors; adapted from aviation industry safety principles.
Gillick competence = sufficient understanding and intelligence to consent - decision-specific and child-specific; can consent TO treatment but position on refusing treatment is more complex; emergency treatment can proceed without consent if in best interests; document the assessment.
Genital/perianal warts in children = consider sexual abuse (especially >2-3 years) - vertical transmission possible in first 2-3 years; safeguarding referral for assessment; other STIs (gonorrhoea, chlamydia beyond neonatal) are highly specific for abuse; comprehensive assessment needed, not just dermatology.
Accidental spill/pull = asymmetric, irregular, splash marks, satellite lesions, flowing pattern, variable depth; inflicted = symmetrical, tide marks, uniform depth, protected areas; always assess whether the history matches the pattern; developmental stage must support the mechanism described.
Audit = measure practice against standards, implement change, re-measure - the cycle must be 'closed' (re-audit); audit ≠ research (no ethics approval usually needed); PDSA cycle; NICE provides standards; national audits (NPDA, NNAP) benchmark paediatric care.
Child's best interests = paramount - neither parents nor doctors have absolute authority; discuss, negotiate, mediate, court as last resort; RCPCH framework guides treatment limitation decisions; clinical ethics committee can help; independent second opinion; courts decide based on best interests.
Confidentiality covers ALL forms of information - verbal, written, electronic; no corridor discussions with identifiable details; common law + DPA/GDPR + HRA + GMC all protect confidentiality; practical measures: private discussions, screen locks, no social media posts; it is a breach regardless of whether harm results or the patient complains.
Complaints = acknowledge within 3 days, investigate, respond clearly, apologise if appropriate - PHSO is the escalation route; complaints are NOT claims; learning opportunity; GMC expects constructive response; complaint handling is part of clinical governance; complaint trends should be analysed for service improvement.
Justice = fair, equitable resource distribution - address health inequalities (Marmot, inverse care law); child poverty affects 30% of UK children; paediatricians as advocates for children's health equity; children's services often underfunded; social determinants of health are key drivers of child health outcomes.
Human factors = designing systems for fallible humans - situation awareness, SBAR, CRM, checklists, managing cognitive biases; NOT about blame; originated in aviation, essential in healthcare; paediatric-specific: weight-based dosing errors, equipment sizing, resuscitation teamwork; human factors training in APLS/NLS.
Predictive testing for adult-onset conditions = defer until the child can decide autonomously - respects future autonomy (right not to know); exceptions when childhood intervention changes management (FAP, MEN2); BSGM/RCPCH guidelines support deferral; carrier testing also deferred; parents cannot override child's future autonomy.
Persistent bullying causing significant harm = safeguarding concern - self-harm indicates significant harm threshold met; both the victim AND the bully may have safeguarding needs; cyberbullying has unique features; peer-on-peer abuse is recognised in Working Together 2018; multi-agency response may be needed.
Child safety ALWAYS comes first - refer on reasonable suspicion, not proof; threats of litigation do not justify inaction; GMC protects doctors acting in good faith; confidentiality can be breached to protect a child; 'safeguarding is everyone's responsibility'; escalate if concerns are not addressed.
MCA applies to 16-17 year olds - presumed capacity; 5 principles (presume, support, unwise ≠ incapable, best interests, least restrictive); 4-part capacity test (understand, retain, weigh, communicate); cannot make LPA or advance decisions; works alongside Children Act and FLRA 1969.
Neglect = most common form of maltreatment in UK - persistent failure to meet basic needs; indicators include poor growth, missed appointments, dental caries, inappropriate clothing; cumulative harm can be devastating; poverty ≠ neglect; Working Together 2018 provides the definitions.
Disclosure of sexual abuse - listen, open questions (TED), document verbatim in quotation marks, do NOT lead/interrogate, do NOT promise secrecy, reassure the child, refer to children's social care/police immediately, do NOT forensically examine (SARC), preserve evidence.
Level 4 = significant harm, Section 47, child protection - highest threshold; Level 3 = child in need, Section 17; Level 2 = early help/additional needs; Level 1 = universal; understanding thresholds is essential for appropriate referrals; 'significant harm' is the legal threshold for CP intervention.
Gillick competent young person can consent to HIV test and confidentiality applies - BUT always assess for safeguarding concerns (how was she exposed?); pre-test counselling essential; maintain confidentiality unless safeguarding override; GMC guidance supports confidentiality for competent minors.
Gillick assessment = decision-specific, NOT age-specific - can they understand, retain, weigh, and communicate a decision about THIS specific treatment?
SCR/CSPR most common failing = inter-agency communication failure - information silos; other themes: disguised compliance, rule of optimism, start again syndrome, failure to see the child; Climbié, Baby P, Pelka - key cases; 'Think child, see child, hear child' principle.
Uncertainty = discuss + document + refer if reasonable suspicion - 'reasonable cause to suspect' is the threshold, NOT certainty; named doctor exists for exactly this purpose; better to refer and be wrong than not refer; 'newspaper test'; GMC supports sharing concerns.
'Those who don't cruise, rarely bruise' - ANY bruise in a pre-mobile infant is suspicious for NAI; <1% of non-mobile infants have accidental bruising; investigate: coagulation screen + skeletal survey + ophthalmology; safeguarding referral mandatory; document and photograph all bruises.
Competent young person = right to confidentiality - assess for safeguarding concerns (exploitation, supply, county lines); provide harm reduction; breach confidentiality ONLY if necessary to prevent serious harm (proportionality test); breaching inappropriately deters future help-seeking; inform the young person if disclosing.
Duty of candour = open, honest, prompt communication when things go wrong - statutory (Regulation 20) and professional (GMC) duty; apologise sincerely (not an admission of liability); investigate to prevent recurrence; failure to disclose is worse than the error itself; patient safety culture.
Near miss = harm prevented before reaching patient - report and investigate as seriously as actual events; reveals system vulnerabilities; never events = should never occur (NHS England list); just culture encourages reporting; LFPSE (replaced NRLS) is the national reporting system.
RCA = find system root causes, not blame individuals - Swiss Cheese Model (Reason); 5 Whys and fishbone diagrams are tools; focus on latent conditions (system weaknesses) not just active failures; recommendations must be specific and implementable; PSIRF guides NHS incident response; learning culture > blame culture.
GMC duties = patient first, respect and dignity, honesty and integrity, maintain public trust - Good Medical Practice (4 domains); revalidation every 5 years; doctors must keep up to date, participate in audit/QI, respond to concerns; fitness to practise process for serious concerns.
Off-label prescribing = common and legal in paediatrics (up to 70%) - prescriber takes responsibility; inform parents it is off-label; ensure evidence base; document rationale; BNF-C guides many off-label uses; EU Paediatric Regulation aims to increase paediatric licensing; personal liability rests with the prescriber.
M&M meetings = review deaths and complications for learning, NOT blame - cornerstone of clinical governance; structured frameworks (London Protocol, SBAR, AAR); regular, multi-disciplinary, documented, actionable; contribute to CPD and revalidation; safe environment for open discussion is essential.
Unsafe staffing = raise the concern - document factually, report through Trust systems, escalate if needed; GMC duty to act on safety concerns; PIDA protects whistleblowers; Freedom to Speak Up Guardians; Francis Report highlighted consequences of silence; never stay quiet when patient safety is at risk.
Report to coroner = unknown cause, violent/unnatural, surgery/anaesthesia, custody, unattended, neglect - ALL unexpected child deaths; coroner determines cause of death; inquest if violent/unnatural/custody; Regulation 28 (Prevention of Future Deaths) requires action; CDOP works alongside coronial process.
Patient's needs first, regardless of personal beliefs - GMC duty; do not refuse, obstruct, or impose beliefs; if unable to provide a service, refer promptly; conscientious objection limited (abortion); no discrimination based on lifestyle/choices; professionalism = separating personal beliefs from clinical care.
UK GDPR = 7 principles - lawful, fair, transparent, purpose-limited, minimised, accurate, secure, accountable; health data = special category; NOT a barrier to safeguarding; patients can access their records (SAR); data breaches reported to ICO within 72 hours; Caldicott principles guide practice.
Francis Report (2013) = Mid Staffs inquiry - culture of fear, targets > patients, failure to raise concerns; 290 recommendations; legacy: statutory duty of candour, Freedom to Speak Up, enhanced CQC, fundamental standards; 'patients first' principle; remains the defining moment for NHS patient safety culture.
Referral → MASH → strategy discussion (within 24 hours) → Section 47 enquiry → ICPC (within 15 working days) → child protection plan; police lead criminal investigation; social care lead welfare assessment; strategy discussion is multi-agency; child's voice must be heard throughout.
Consent from ANY person with PR is sufficient for routine treatment - mother always has PR; married fathers automatically; unmarried fathers if on birth certificate (post-2003) or by agreement/order; significant decisions may need both parents; emergency treatment proceeds without consent; Gillick competent children can self-consent.
Gillick competent child's confidentiality should be respected - parents can access general information but not information the competent child wants kept private; exception: if withholding puts the child at risk; DPA 2018 and GMC '0-18 years' guidance; developing autonomy of the child must be recognised.
Information sharing = need-to-know basis + consent where possible + child's best interests paramount - Gillick competent child's views on sharing should be sought; without consent only for safeguarding/statutory/public interest; GDPR is not a barrier to appropriate sharing; document what was shared and why.
Reflective practice = learning from experience - Gibbs cycle, Driscoll model; essential for CPD and revalidation; supports emotional wellbeing; significant event reflection; Schwartz Rounds for team reflection; GMC supports it but cautions on disclosability; focus reflections on learning and action plans.
Clinical holding = last resort - exhaust alternatives first (distraction, EMLA, play therapy, timing); minimum necessary force; parental consent; document; consider delay, sedation, or alternative approaches; iatrogenic distress is real harm; RCN guidance; child's wishes should be considered even in young children.
Seven pillars = clinical effectiveness, audit, risk management, education/training, patient involvement, information, staffing - clinical governance = continuous quality improvement; introduced after Bristol inquiry; accountability for care quality; GMC revalidation is part of the governance framework.
Revalidation = every 5 years, based on annual appraisal - CPD, QI, significant events, complaints, patient + colleague feedback; responsible officer recommends to GMC; introduced after Shipman inquiry; Good Medical Practice (4 domains) is the framework; 50 CPD credits per year.
47 ED attendances + multiple hospitals + normal investigations = red flag for FII - 'peregrination' (hospital shopping) is characteristic; compile ALL medical records; multi-agency strategy discussion; the pattern is only visible when records are combined; the child is harmed by unnecessary investigations and treatments.
Male circumcision for religious reasons = lawful with both parents' consent + safe procedure + pain relief; FGM is ALWAYS illegal (FGM Act 2003); BMA guidance requires both parents' consent; if parents disagree → court; medical circumcision for phimosis is a separate indication.
Emotional abuse = persistent emotional maltreatment - conveying worthlessness, imposing inappropriate expectations; present in ALL forms of abuse but can occur alone; domestic violence exposure = emotional abuse; most difficult to identify and prove; second most common CP plan category.
ICPC within 15 working days of Section 47 - multi-agency information sharing, risk analysis, decision about child protection plan; categories: physical, emotional, sexual, neglect; review at 3 months then 6-monthly; family participation is essential; independent chairing.
QI = PDSA cycles + care bundles + SPC charts - systematic improvement methodology; PDSA is iterative (small tests of change); care bundles = evidence-based interventions together; SPC charts distinguish meaningful change from random variation; QI ≠ audit (which measures but doesn't systematically improve).
Gillick = broad consent capacity for ANY treatment; Fraser = specific criteria for CONTRACEPTION only; both from Gillick v West Norfolk 1985; 'Fraser competent' ≠ 'Gillick competent' (common misconception); Lord Scarman = Gillick competence, Lord Fraser = contraception guidelines.
Gillick competent consent IS legally sufficient - cannot be overridden by parental refusal; BUT child's refusal CAN potentially be overridden (by parents or courts); this asymmetry protects children; in practice, try to resolve disagreements; seek court orders for life-saving treatment disputes.
Negligence = duty + breach + causation + damage - Bolam/Bolitho test for standard of care; complication ≠ negligence; Montgomery (2015) for consent standard (material risk test); deviation from guidelines not automatically negligent if justified; civil not criminal standard usually applies.
SDM = clinician expertise + family values → shared decision - not paternalistic, not consumer model; acknowledge options, share evidence, explore values, support deliberation; include the child where possible; NICE supports SDM; 'Ask 3 Questions' framework; decision aids help communication.
Impaired colleague = immediate patient safety action - remove from clinical duties, report to senior, escalate if needed; GMC duty to raise concerns; PIDA protects whistleblowers; support the colleague to access help (Practitioner Health); patient safety > professional relationships.
Police protection = up to 72 hours, no court order needed (Section 46); EPO = up to 8 days, court order (Section 44); contact police if parents attempt to remove at-risk child from hospital; EPO is a last resort; these are Children Act 1989 provisions.
Audit = practice vs standards (are we doing what we should?); Research = new knowledge (what should we be doing?); audit does NOT usually need ethics approval; research ALWAYS needs REC approval; HRA decision tool clarifies the category; service evaluation = assessing effectiveness; QI uses PDSA methodology.
Significant harm = threshold for compulsory intervention - ill-treatment OR impairment of health/development; compared with a 'similar child'; no absolute criteria; cumulative harm is important (chronic neglect); Children Act 1989; triggers Section 47, care orders, emergency protection; each case assessed individually.
Refractory Graves disease = RAI or thyroidectomy - both cause permanent hypothyroidism; RAI is preferred in older children (>10 years); thyroidectomy by an experienced surgeon has low complication rates; both are >90% effective.
NICE NG18 HbA1c target = ≤48 mmol/mol (6.5%) - individualise to reduce hypoglycaemia risk; measure at least 3-monthly; CGM time-in-range (target ≥70%) complements HbA1c assessment.
Pubertal gynaecomastia at Tanner 3-4 = physiological in 50-70% of boys - reassure and observe; resolves in 12-24 months; investigate if unilateral, very large, persistent >2 years, or associated with other concerning features.
High FSH/LH + absent puberty = primary gonadal failure (hypergonadotrophic hypogonadism) - karyotype is essential to exclude Turner syndrome (girls) or Klinefelter (boys); low FSH/LH = central cause (hypothalamic/pituitary).
Neonatal thyrotoxicosis = maternal TRAb crossing the placenta - affects 1-5% of infants of Graves disease mothers; self-limiting over 2-4 months; treat with propranolol + carbimazole ± Lugol's iodine; can be delayed by maternal ATD use.
Block-and-replace = more stable levels, fewer adjustments, but two medications and higher carbimazole exposure; titration = one medication, more adjustments; both have similar remission rates (~20-30%); choice is based on clinician preference and patient factors.
School-time injection barriers = consider insulin pump (discreet bolusing) or practical pen solutions - every child should have an IHP at school; trained staff, private space, emergency glucose, and glucagon must be available; address psychosocial barriers to adherence.
Ambiguous genitalia at birth = urgent 17-OHP and karyotype to exclude salt-wasting CAH - potentially life-threatening if missed; FISH for rapid sex chromosome result; pelvic ultrasound for internal anatomy; MDT approach to sex assignment; do NOT rush gender assignment.
T1DM autoantibodies - ICA, anti-GAD65, anti-IA-2, IAA, anti-ZnT8; ≥2 antibodies = >80% risk of T1DM within 15 years; they are markers (not causes) of autoimmune beta-cell destruction; clinical T1DM manifests when ~80-90% of beta-cells are destroyed.
IAH = avoid ALL hypoglycaemia for 2-4 weeks to restore awareness - temporarily raise glucose targets; CGM with low-glucose alerts and HCL systems are highly beneficial; always have glucagon available; affects ~25-30% of children with long-standing T1DM.
GH is NOT licensed for idiopathic short stature in the UK - NICE-approved indications include GHD, Turner, Prader-Willi, CRI, SHOX deficiency, and SGA without catch-up; ISS requires psychological support and realistic counselling rather than GH therapy.
Growth deceleration in an overweight child = suspect Cushing syndrome - normal obese children grow well; key tests: late-night salivary cortisol, 24-hour urinary free cortisol, LDDST; ACTH level differentiates adrenal from pituitary causes.
46,XX CAH = raise as female - normal ovaries and uterus; virilisation is from excess androgens which is treatable; fertility is generally good; MDT approach for all DSD decisions.
DSD surgery in CAH = MDT approach + informed consent + consider deferring until the child can participate - performed only by experienced DSD surgeons; trend towards less early surgery; functional outcomes and patient autonomy are increasingly prioritised.
T1DM + autoimmune thyroiditis = screen for coeliac disease and be alert for Addison's disease - autoimmune conditions cluster (APS type 2); shared HLA susceptibility; annual thyroid and periodic coeliac screening are standard in T1DM management.
rhGH = daily SC injection in the evening - starting dose ~25-35 μg/kg/day; monitor growth velocity, IGF-1, bone age, glucose, and TFTs; long-acting weekly GH formulations are now available for eligible patients.
Congenital hypothyroidism features - prolonged jaundice, constipation, large fontanelle, macroglossia, hypothermia, hypotonia, umbilical hernia; newborn screening prevents intellectual disability; levothyroxine must start within 2 weeks of life.
GH therapy in Turner syndrome = approximately 5-8 cm additional height gain - higher doses used than for GHD; start early for maximum benefit; SHOX gene haploinsufficiency contributes to short stature; oxandrolone may add further height benefit.
CPP = puberty <8 years (girls) or <9 years (boys) with elevated gonadotrophins - MRI brain mandatory in boys and girls <6 years; GnRH stimulation test confirms; girls >90% idiopathic; boys more likely organic cause.
Ambiguous genitalia in a 46,XX infant + salt-wasting crisis (low Na, high K, low glucose) at day 5-14 = salt-wasting CAH (21-hydroxylase deficiency) - life-threatening emergency; treat with IV hydrocortisone + saline + dextrose immediately.
Add 5% dextrose when glucose ~14 mmol/L - continue insulin to clear ketones; glucose should not fall >5 mmol/L/hour; start SC insulin 30-60 min BEFORE stopping IV insulin; DKA resolved when pH >7.3, bicarb >15, ketones <0.6.
In CAH - elevated 17-OHP + high testosterone + fast growth + advanced bone age = under-treatment (increase hydrocortisone); slow growth + weight gain + Cushingoid features = over-treatment (reduce hydrocortisone); the goal is a narrow therapeutic window.
Craniopharyngioma = suprasellar cystic/solid mass + visual field loss + panhypopituitarism - most common suprasellar tumour in children; arises from Rathke's pouch; lifelong hormone replacement needed; hypothalamic obesity is a major post-surgical morbidity.
Transdermal oestradiol is preferred for Turner puberty induction - more physiological levels, avoids first-pass metabolism, better uterine development; start very low dose at age 11-12, increase gradually over 2-3 years; important for potential future fertility with egg donation.
Headache + confusion + bradycardia + hypertension during DKA treatment = cerebral oedema - give hypertonic saline (2.7-3%) 2.5-5 mL/kg immediately; do NOT wait for CT; mortality 20-25%; treat on clinical suspicion.
NICE NG18 = basal-bolus first-line - long-acting analogue (glargine/detemir) + rapid-acting with meals (aspart/lispro); total dose ~0.5-1.0 U/kg/day; approximately 40-50% basal, 50-60% bolus.
Falling growth velocity + height below mid-parental height + delayed bone age + central adiposity = suspect GHD - GH stimulation testing is required to confirm; always perform MRI brain/pituitary to exclude structural cause.
Hashimoto = most common cause of acquired hypothyroidism in children - goitre + anti-TPO antibodies + high TSH + low T4; associated with other autoimmune conditions; screen annually in Down and Turner syndrome.
Familial short stature = height appropriate for short parents + normal growth velocity + bone age = chronological age - a normal variant; CDGP = delayed bone age + delayed puberty + eventual catch-up; GHD = falling velocity + delayed bone age.
Virilised neonate with elevated 17-OHP = cannot distinguish simple virilising from salt-wasting CAH clinically at birth - monitor electrolytes closely for salt-wasting crisis (days 5-14); start hydrocortisone immediately; CYP21A2 genotyping helps predict severity.
GnRH agonist (leuprorelin/triptorelin) = first-line for CPP - desensitises pituitary, suppresses gonadotrophins and sex steroids; depot injection monthly or 3-monthly; initial flare for 1-2 weeks; continue until age 11-12; puberty resumes normally after stopping.
DKA = glucose >11 + pH <7.3 + ketones >3 - severity determined by pH and HCO3; Kussmaul breathing is the respiratory compensation for metabolic acidosis; ~25-30% of new T1DM presents with DKA.
Elevated 17-OHP = 21-hydroxylase deficiency (>90% of CAH) - 17-OHP accumulates proximal to the block and is shunted to androgens; newborn screening measures 17-OHP to detect classic CAH early.
Premature adrenarche = isolated pubic/axillary hair + normal growth + normal bone age + mildly elevated DHEAS - benign but exclude non-classic CAH; associated with later PCOS and metabolic risk; long-term follow-up is advisable.
Obese adolescent + acanthosis nigricans + negative autoantibodies + high C-peptide = T2DM - increasing in prevalence; metformin is first-line; lifestyle modification is cornerstone; distinguish from T1DM with autoantibodies and C-peptide.
Alcohol + T1DM = high risk of delayed, prolonged hypoglycaemia (up to 12-24 hours later) - inhibits hepatic gluconeogenesis; glucagon may not work; symptoms confused with intoxication; eat carbs, reduce insulin, check glucose before bed and overnight.
Cranial irradiation → GH deficiency is the most common and earliest endocrine consequence - somatotrophs are the most radiosensitive; lifelong endocrine surveillance is essential; low-dose radiation can paradoxically cause precocious puberty; start GH if GHD confirmed and no active tumour.
Nocturnal hypoglycaemia = reduce basal insulin dose or adjust timing - CGM is invaluable for detecting overnight patterns; hybrid closed-loop (artificial pancreas) systems significantly reduce nocturnal hypoglycaemia.
Persistent microalbuminuria in T1DM = start ACE inhibitor - renoprotective beyond BP lowering; target HbA1c <48, BP <130/80; ACE inhibitors are teratogenic - contraception is essential; microalbuminuria is the window of opportunity for intervention.
Midline neck swelling + moves up with tongue protrusion = thyroglossal duct cyst - Sistrunk procedure (excise cyst + hyoid bone + tract to foramen caecum); always confirm normal thyroid tissue exists before surgery.
Adrenal crisis = IV/IM hydrocortisone immediately (2 mg/kg) + IV saline bolus + IV dextrose if hypoglycaemic - life-threatening emergency; at stress doses, hydrocortisone provides adequate mineralocorticoid cover; prevention through education and emergency kits is essential.
Blood ketones >3.0 mmol/L = emergency - seek immediate medical help; blood ketone monitoring is more accurate than urine; all T1DM families need a ketone meter and education on sick-day rules and ketone action thresholds.
BSPED paediatric DKA - start insulin at 0.05-0.1 units/kg/hour (0.05 preferred initially) 1-2 hours after fluids; aim to suppress ketogenesis; add glucose to fluids when glucose ~14 mmol/L; never give an insulin bolus.
Dawn phenomenon = GH and cortisol cause early-morning insulin resistance - manage by adjusting basal insulin timing/dose or programming higher pump basal rates; CGM distinguishes from Somogyi effect; HCL systems handle it automatically.
Suppressed LH response on GnRH stimulation test during GnRH agonist therapy = effective treatment - monitor with clinical staging, LH response, sex steroids, and bone age; breakthrough puberty requires dose/frequency adjustment.
Turner syndrome cardiac surveillance = monitor aortic root dilatation + blood pressure - BAV (15-30%) and coarctation (10-15%) are the most common structural anomalies; aortic dissection is the most serious risk; MRI aorta in adolescence; pre-conception cardiac assessment is essential.
Initial K+ in DKA is deceptively normal/high - total body potassium is DEPLETED; start KCl once K+ <5.5 and urine output confirmed; monitor 2-hourly; hypokalaemia during treatment is life-threatening; never give insulin without potassium replacement in severe hypokalaemia.
HCL = automatic basal adjustment based on CGM - still requires manual meal boluses (hence 'hybrid'); improves TIR by ~10-15%, reduces hypo and hyper; NICE recommends considering for eligible children.
Ketones not falling in DKA = increase insulin rate to 0.1 U/kg/hr - NEVER stop insulin because glucose is falling; add dextrose to prevent hypoglycaemia; do NOT give bicarbonate in paediatric DKA; targets: ketones ↓ ≥0.5/hr, glucose ↓ 3-5/hr, pH ↑ ≥0.03/hr.
T1DM + coeliac disease = shared HLA-DQ2/DQ8 susceptibility - 5-10% of T1DM children develop coeliac; screen at diagnosis and periodically; untreated coeliac causes unpredictable glucose control; adjust insulin when starting GFD.
Turner syndrome = 45,X + short stature + shield chest + cubitus valgus + cardiac anomalies (BAV, coarctation) - treat with GH for height; oestrogen for puberty; annual cardiac, renal, thyroid, and audiological surveillance.
Non-classic CAH = milder 21-hydroxylase deficiency - presents with adrenarche, acne, virilisation; diagnose with synacthen test; treat with low-dose hydrocortisone if symptomatic; no salt-wasting; fludrocortisone NOT needed; much more common than classic CAH.
Unconscious hypoglycaemia = IM glucagon (0.5 mg if <8yr/<25kg, 1 mg if ≥8yr/≥25kg) - all T1DM families must have glucagon at home; nasal glucagon is an easier alternative; NEVER give oral fluids to an unconscious child.
Rapid virilisation + markedly elevated androgens + suppressed gonadotrophins + adrenal mass = virilising adrenocortical tumour - surgical resection; screen for Li-Fraumeni syndrome (TP53); distinguished from CAH by rapidity, degree of androgen elevation, and imaging findings.
BSPED DKA fluids - cautious rehydration over 48 hours; 10 mL/kg bolus ONLY if shocked; never give rapid 20 mL/kg boluses; add KCl when K+ <5.5 and urine output confirmed; add 5% dextrose when glucose ~14 mmol/L.
Subclinical hypothyroidism (high TSH, normal T4) in T1DM = monitor 3-6 monthly; treat if TSH >10, symptoms develop, goitre, or growth slows; screen T1DM annually for thyroid disease (anti-TPO + TSH).
Carbohydrate counting = match rapid-acting insulin to carbs using an insulin-to-carbohydrate ratio - allows dietary flexibility; combined with a correction factor for above-target glucose; NICE recommends structured education for all T1DM families.
Honeymoon period = temporary partial beta-cell recovery with reduced insulin needs - do NOT stop insulin; it is NOT a cure; typically lasts weeks-months; insulin requirements will inevitably increase as autoimmune destruction continues.
Progesterone is added to oestrogen to protect the endometrium - prevents hyperplasia and cancer from unopposed oestrogen; start after ~2 years of oestrogen or when breakthrough bleeding occurs; allows cyclical withdrawal bleeds.
ATD course for paediatric Graves = 18-24 months - only 20-30% achieve long-term remission; check TRAb before withdrawal (positive = likely relapse); definitive options for relapse: repeat ATDs, radioactive iodine, or thyroidectomy.
NICE NG18 = offer CGM to ALL children with T1DM - key metrics: TIR ≥70%, TBR <4%; CGM + insulin pump in a hybrid closed-loop system provides the best glycaemic outcomes currently available.
Weight gain + growth DECELERATION = Cushing syndrome (not simple obesity) - obese children grow normally; purple striae, moon face, hirsutism, and hypertension are key clinical features; growth deceleration is the most important differentiating feature.
PLGS = automatically suspends insulin BEFORE glucose goes low, based on CGM predictions - reduces hypoglycaemia by 30-50%; especially valuable overnight; part of the technology progression towards fully automated insulin delivery.
Hypogonadotrophic hypogonadism + anosmia = Kallmann syndrome - GnRH neurone migration failure; MRI shows absent olfactory bulbs; always test smell in delayed puberty; testosterone for puberty, gonadotrophins for fertility.
First-year GH response is greatest (catch-up), then velocity settles to a sustained lower rate - this is NORMAL; poor response should prompt assessment of compliance, thyroid function, and consideration of other diagnoses.
Virilised 46,XX CAH can look completely male (Prader 5) - urgent karyotype prevents wrong sex assignment; pelvic ultrasound for uterus; rapid FISH for X/Y within 24-48 hours; any 'male' neonate with bilateral cryptorchidism and/or hypospadias should have karyotype and 17-OHP checked.
Premature thelarche = isolated breast development + normal growth + prepubertal gonadotrophins + normal bone age - benign and self-limiting; monitor 6-monthly for progression to true precocious puberty (~15-20% risk); distinguish from CPP by absence of other pubertal signs.
Achondroplasia = FGFR3 gain-of-function mutation - rhizomelic shortening, frontal bossing, trident hand; >80% de novo; assess for foramen magnum stenosis in infancy; use syndrome-specific growth charts.
Fludrocortisone = mineralocorticoid replacement in salt-wasting CAH - prevents salt-wasting crisis; monitor with plasma renin activity and electrolytes; hydrocortisone replaces cortisol and suppresses androgens; salt supplements often needed in infancy.
TLS hyperuricaemia - allopurinol for prevention, rasburicase for treatment (lowers urate >90% within 4 hours); rasburicase is contraindicated in G6PD deficiency; urinary alkalinisation is no longer recommended and aggressive hydration is the cornerstone.
Severe pain = immediate strong opioid + multimodal approach - intranasal diamorphine is excellent for paediatric ED use (no IV needed, rapid onset); codeine is restricted in under-12s due to fatal CYP2D6 ultra-rapid metabolism risk.
Pseudomonas in CF = dual IV anti-pseudomonal therapy (ceftazidime + tobramycin) - CF patients need higher antibiotic doses due to altered pharmacokinetics; chronic colonisation is managed with nebulised antibiotics and oral azithromycin.
First-generation antihistamines cause sedation (main effect) but paradoxical excitability in some children - prefer second-generation (cetirizine, loratadine) for chronic use; first-generation retained for acute reactions and when sedation is desired.
Caffeine citrate = first-line for apnoea of prematurity - wider therapeutic index than theophylline, no routine TDM needed; the CAP trial showed it reduces BPD and improves neurodevelopmental outcomes.
TPMT must be checked before starting azathioprine - 0.3% of patients have absent activity with risk of fatal myelosuppression; even normal TPMT patients need regular FBC monitoring (weekly → monthly → 3-monthly).
Eczema herpeticum = HSV dissemination in eczema = dermatological emergency - treat with aciclovir (IV for severe, oral for mild); STOP topical steroids during active infection; aciclovir requires adequate hydration to prevent crystalluria.
Sumatriptan = 5-HT1B/1D agonist for acute migraine in children ≥12 years - nasal spray preferred due to migraine-related nausea; contraindicated in cardiovascular disease; limit to <10 days/month to prevent medication-overuse headache.
Montelukast blocks CysLT1 receptors - taken once daily in the evening; watch for neuropsychiatric side effects (nightmares, behavioural changes); particularly useful in under-5s where LABA evidence is limited and in exercise-induced bronchoconstriction.
Paediatric DKA = 0.1 units/kg/hour insulin (no bolus), started 1-2 hours AFTER fluids - aim for gradual correction to prevent cerebral oedema; glucose should fall no faster than 3 mmol/L/hour.
First-episode nephrotic syndrome = prednisolone 60 mg/m²/day for 4 weeks then 40 mg/m² alternate days for 4+ weeks - 80% respond (steroid-sensitive); non-response after 4 weeks = steroid-resistant, needs biopsy.
Mouth rinsing after ICS prevents oral candidiasis - always use a spacer with MDI, maintain regular daily use for prevention, and monitor growth annually; ICS are anti-inflammatory preventers, not bronchodilators.
Enzyme-inducing AEDs (phenobarbital, phenytoin, carbamazepine) cause vitamin D deficiency via accelerated hepatic metabolism → rickets/osteomalacia - supplement vitamin D and monitor bone biochemistry annually; non-inducing AEDs (levetiracetam, lamotrigine) are safer for bone health.
Wet wraps = enhanced topical corticosteroid absorption via occlusion + physical scratch barrier - use diluted steroids, short courses (3-7 days), and specialist supervision; particularly effective for severe flares and nocturnal itch.
Codeine is BANNED in under-12s and contraindicated post-tonsillectomy/adenoidectomy in under-18s - CYP2D6 ultra-rapid metabolisers convert codeine to fatal morphine levels; use paracetamol, ibuprofen, or morphine (supervised) instead.
Methylphenidate monitoring = height, weight, HR, BP at every review - growth restriction and cardiovascular effects are key concerns; it is the first-line ADHD medication in children ≥5 years after non-pharmacological strategies.
COCP reduces lamotrigine levels by ~50% through glucuronidation induction - this is a bidirectional interaction causing seizure risk on the pill and toxicity during pill-free weeks; progestogen-only or non-hormonal contraception is preferred.
Lithium monitoring = levels (0.4-1.0 mmol/L, 12-hour post-dose) + U&Es + TFTs - narrowest therapeutic index of common drugs; NSAIDs and dehydration precipitate toxicity; patients must carry a lithium alert card.
Flucloxacillin = beta-lactamase-resistant penicillin, first-line for staphylococcal skin infections - take on an empty stomach; NOT effective against MRSA; watch for cholestatic jaundice with prolonged courses.
Penicillin allergy with GAS tonsillitis = clarithromycin first-line alternative - avoid all penicillins including co-amoxiclav; consider allergy de-labelling as >90% of reported penicillin allergies are not true allergies.
Caffeine citrate does NOT need routine TDM (wide therapeutic index 5-25 mg/L vs toxic >50 mg/L) - a major advantage over theophylline; the extremely long neonatal half-life (40-230 hours) allows once-daily dosing.
Trimethoprim treatment dose is 4 mg/kg BD, prophylactic dose is 2 mg/kg nocte - always check local resistance patterns as E. coli resistance to trimethoprim is rising across the UK.
Atracurium is ideal for neonatal intubation - Hofmann elimination means no reliance on immature liver/kidneys; neonates have higher Vd, immature metabolism, reduced protein binding, and greater CNS drug penetration.
EMLA = lidocaine 2.5% + prilocaine 2.5%, apply 60 minutes before procedure - beware methaemoglobinaemia in young infants from prilocaine; Ametop (tetracaine) is faster (30-45 min) and causes vasodilation but more local irritation.
Surfactant reduces alveolar surface tension preventing collapse - produced by type II pneumocytes from 24 weeks, adequate by 34-36 weeks; LISA technique is increasingly preferred; antenatal steroids stimulate endogenous surfactant production.
Neonatal pharmacology = immature liver (low CYP450/conjugation) + high body water (larger Vd) + low protein binding (more free drug) + immature kidneys (low GFR) → longer half-lives, wider dosing intervals, and higher toxicity risk.
Adrenaline autoinjector - 150 mcg for 15-30 kg, 300 mcg for >30 kg - always prescribe TWO devices; train parents, school staff, and child in use; carry at all times; check expiry dates regularly.
Accidental opioid ingestion in children = minimum 12 hours observation (24 hours for MR preparations) - methadone is extremely dangerous (1-2 mL can be fatal in toddlers); naloxone may need repeating due to its shorter duration; consider safeguarding.
Theophylline toxicity = seizures + arrhythmias (potentially fatal without warning at levels >40 mg/L) - multiple-dose activated charcoal for sustained-release; seizures are often refractory to benzodiazepines; haemodialysis for severe poisoning.
Valproate in females of childbearing potential = 10% major malformation risk + 30-40% neurodevelopmental harm - the Pregnancy Prevention Programme is mandatory; switch to lamotrigine or levetiracetam if possible.
Isotretinoin = absolute teratogen + psychiatric risk monitoring - Pregnancy Prevention Programme is mandatory for females; monitor lipids, LFTs, and mood regularly; NEVER co-prescribe with tetracyclines (benign intracranial hypertension risk).
Spacer care - wash with detergent monthly, air dry without wiping (preserves anti-static coating); fire one puff at a time; spacers improve lung deposition from ~10% to 20-30%; MDI+spacer is as effective as nebuliser for mild-moderate asthma.
SSRIs in adolescents = suicidality risk in first weeks - fluoxetine is first-line (only SSRI recommended for under-18s by NICE); close monitoring weekly for 4 weeks; always combine with psychological therapy.
Fluconazole prophylaxis in ELBW neonates prevents invasive candidiasis (20-40% mortality) - reduces incidence by ~80%; given twice weekly for 4-6 weeks; indicated when unit candidiasis rate >5% in ELBW infants.
Carbamazepine causes SIADH-like hyponatraemia in up to 40% of patients - check sodium 2 weeks after starting and after dose changes; oxcarbazepine has an even higher risk; severe hyponatraemia can paradoxically cause seizures.
Low-dose ICS in children 5-12 years = 100-200 mcg BDP equivalent/day - fluticasone is twice as potent as BDP; always use the lowest effective dose and consider step-down when control is maintained for 3 months.
Topical steroids - use FTU method, lowest effective potency, shortest duration; avoid potent preparations on face/flexures; address steroid phobia with clear education; step down to emollients when controlled.
Domperidone = QT prolongation risk (MHRA warning) - use lowest dose, shortest duration; NOT recommended by NICE for infant GORD; metoclopramide has extrapyramidal risks (max 5 days); conservative GORD management is preferred.
CCB overdose = calcium + high-dose insulin-glucose + lipid emulsion - even 1-2 tablets can be fatal in toddlers; amlodipine SR has prolonged absorption so observation period is ≥24 hours; hyperglycaemia paradoxically indicates severity.
Tiotropium is a LAMA add-on at steps 4-5 for children aged 6 years and over not controlled on ICS+LABA - once daily via Respimat; main side effect is dry mouth; it gives additive bronchodilation through a different mechanism (muscarinic blockade) from LABA.
Ibuprofen or IV paracetamol closes PDA in preterms by reducing prostaglandin synthesis - prostaglandin E1 does the OPPOSITE (keeps PDA open); ibuprofen success rate ~70-80%; check contraindications before use.
Erythromycin + valproate = potential toxicity via CYP450 inhibition - use azithromycin as a safer macrolide alternative; always check AED interactions before prescribing new medications to children with epilepsy.
Gentamicin TDM is mandatory - trough <1 mg/L to prevent nephrotoxicity and ototoxicity; neonates need extended-interval dosing due to immature renal clearance; ototoxicity is irreversible.
Valproate hepatotoxicity risk is highest in under-3s on polytherapy (1 in 500 fatal) - warn parents about warning signs; NEVER prescribe to females of childbearing potential without the Pregnancy Prevention Programme due to severe teratogenicity.
Azithromycin in CF = anti-inflammatory, NOT anti-pseudomonal - improves FEV1 and reduces exacerbations; screen for NTM before starting; given thrice-weekly; monitor LFTs and hearing with long-term use.
Tacrolimus 0.03% is licensed for children ≥2 years with moderate-severe eczema - particularly useful on face/flexures where potent steroids are avoided; warn about transient burning on application; second-line after topical corticosteroids per NICE.
NSAID GI bleeding = COX-1 inhibition reducing prostaglandin-mediated mucosal protection + impaired platelet function - avoid in dehydration (renal risk), coagulopathy, and previous GI bleeding; consider PPI cover for prolonged courses.
Write 'micrograms' and 'units' in FULL - µg→mg misread = 1000x overdose, u→0 misread = 10x overdose; use leading zeros (0.5 not .5), avoid trailing zeros (5 not 5.0); tenfold errors are the commonest paediatric prescribing mistake.
Status epilepticus protocol - pre-hospital midazolam → IV lorazepam (0.1 mg/kg, can repeat once) → IV phenytoin loading → RSI; always check glucose and manage the airway throughout.
Acute asthma in children = prednisolone 1-2 mg/kg OD (max 40 mg) for 3 days - no taper needed for short courses; use IV hydrocortisone if the child cannot tolerate oral medication.
Off-label prescribing is legal, common (50-90% of paediatric prescriptions), and often necessary - prescribers must ensure evidence supports use, document rationale, and inform parents; BNF-C includes many off-label recommendations.
IV co-amoxiclav is dosed at 30 mg/kg (amoxicillin component) TDS - always specify which component you are dosing by, and consider IV-to-oral switch after 48 hours of improvement to reduce hospital stay.
Salbutamol side effects = tremor + tachycardia + hypokalaemia - overuse (>3 SABA inhalers/year) indicates poor asthma control and increased mortality risk; NRAD highlighted the danger of excessive SABA reliance without preventer therapy.
Buccal midazolam has replaced rectal diazepam as the preferred community rescue medication for prolonged seizures - easier to give, more dignified, similar efficacy; give if seizure lasts >5 minutes, can repeat once after 10 minutes.
Ethosuximide is first-line for childhood absence epilepsy - NEVER use carbamazepine or phenytoin as they worsen absences; if tonic-clonic seizures co-exist, use valproate instead as ethosuximide only covers absence seizures.
BNF-C uses age-banded amoxicillin dosing - 125 mg (under 1yr), 250 mg (1-4yr), 500 mg (5+yr) all TDS; always check the BNF-C as paediatric doses differ significantly from adult doses.
Step 3 for asthma in children 5-12 years = add LABA to low-dose ICS and assess response; for under-5s, add LRTA (montelukast) instead of LABA at step 3.
Aminophylline loading = 5 mg/kg IV over 20 min (OMIT if on theophylline), target 10-20 mg/L - narrow therapeutic index means TDM is mandatory; check interactions (erythromycin increases levels); toxicity causes seizures and arrhythmias.
Antipyretics do NOT prevent febrile seizures - use them for comfort only; NICE recommends against tepid sponging, and aspirin is contraindicated in children under 16 due to Reye syndrome risk.
Nystatin binds ergosterol in fungal membranes, creating pores - oral suspension is not systemically absorbed (safe for neonates); apply after feeds, retain in mouth; treat for 48 hours beyond symptom resolution.
Nystagmus = first sign of phenytoin toxicity (levels 20-30 mg/L) → ataxia → confusion → coma with increasing levels; hold doses and recheck levels; chronic use causes cerebellar atrophy, gingival hyperplasia, and osteomalacia.
Erythromycin + theophylline = dangerous CYP450 inhibition increasing theophylline levels - theophylline has a narrow therapeutic index so always check interactions; use azithromycin as a safer macrolide alternative.
Target lesions with mucosal involvement after starting carbamazepine = SJS until proven otherwise - stop the drug immediately, never re-challenge; screen HLA-B*1502 in Southeast Asian patients before prescribing.
Bronchiolitis management is SUPPORTIVE only - NICE NG9 explicitly recommends against bronchodilators, steroids, antibiotics, and hypertonic saline; the key interventions are oxygen, hydration, and monitoring.
Prolonged steroids in children = growth suppression as the key concern - monitor height, use alternate-day dosing when possible, carry a steroid card, and give stress-dose hydrocortisone during illness; varicella exposure needs urgent VZIG.
Vancomycin trough target is 10-15 mg/L (standard) or 15-20 mg/L (severe/deep infections) - infuse slowly over ≥1 hour to prevent red man syndrome; monitor renal function alongside levels.
Paracetamol dosing is age-banded in BNF-C - 60 mg for 3-6 months, 120 mg for 6-24 months; maximum 4 doses per 24 hours; staggered paracetamol overdose in children is particularly dangerous and may present with delayed hepatotoxicity.
Folic acid 5 mg weekly (different day from methotrexate) reduces side effects without reducing efficacy - monitor FBC, LFTs, U&Es regularly; methotrexate is teratogenic; it is given WEEKLY not daily (daily dosing is a dangerous prescribing error).
Phenytoin has zero-order kinetics = small dose changes cause big level changes - nystagmus is the first sign of toxicity; it is a CYP450 inducer causing many drug interactions; dose adjustments must be small and levels monitored closely.
Anaphylaxis = IM adrenaline FIRST, nothing else before it - anterolateral thigh, can repeat after 5 minutes; doses are age-based; always prescribe an adrenaline autoinjector on discharge and refer to allergy clinic.
Nitrous oxide is contraindicated with any air-filled closed cavity (pneumothorax, bowel obstruction, middle ear) - it diffuses into cavities causing dangerous expansion; self-administration via demand valve provides inherent safety; only suitable for mild-moderate procedural pain.
5-alpha reductase deficiency = elevated testosterone-to-DHT ratio in 46,XY - undervirilised at birth but significant virilisation at puberty ('guevedoces'); internal male structures normal; autosomal recessive SRD5A2; gender identity often shifts to male at puberty; MDT management essential.
DSD surgery - trend towards deferring cosmetic genital surgery until the child can participate in the decision; functional surgery for obstruction may be performed early; specialist MDT centre essential; full counselling for families; psychological support throughout; individual decision-making.
APS-2 (Schmidt syndrome) = Addison's + autoimmune thyroid + T1DM - polygenic, HLA-associated; most common polyendocrine syndrome; screen for other autoimmune conditions when one is diagnosed; NEVER start thyroxine without first excluding adrenal insufficiency (risk of crisis); APS-1 = AIRE gene, candidiasis + hypoparathyroidism + Addison's.
DSD = MDT assessment before sex assignment - karyotype, 17-OHP, electrolytes urgently; do not rush; use gender-neutral language; 46,XX DSD most commonly CAH; UK allows birth registration delay up to 42 days; psychological support for the family is essential from day one.
Suspect CAH in any neonate with hyponatraemia, hyperkalaemia and hypoglycaemia (especially boys without genital clues) - give saline plus IV hydrocortisone immediately and don't wait for newborn screening (BSPED 2020 CAH adrenal crisis guideline).
GHD = low growth velocity + subnormal GH stimulation tests (<7-10 μg/L peak) - daily SC GH injection at bedtime; MRI pituitary to assess structure; check other pituitary hormones; idiopathic is commonest cause; treatment continues until growth complete then reassess.
VDDR type 1 = 1-alpha hydroxylase (CYP27B1) deficiency - normal 25-OH vitamin D but very low 1,25-(OH)2D; treat with calcitriol (active vitamin D); VDDR type 2 = VDR mutation with very HIGH 1,25-(OH)2D + alopecia; XLH = phosphate wasting with normal vitamin D metabolism.
VDDR type 2 = VDR mutation + very HIGH 1,25-(OH)2D + rickets + alopecia - resistant to vitamin D treatment; high-dose IV calcium may be needed; autosomal recessive; distinguish from VDDR type 1 (very LOW 1,25-(OH)2D, responds to calcitriol); alopecia is pathognomonic.
Bilateral cryptorchidism + micropenis + low testosterone + low gonadotrophins = central hypogonadism - assess all pituitary axes; MRI for pituitary structure and olfactory bulbs; check glucose (GH/cortisol deficiency); consider septo-optic dysplasia; testosterone/hCG treatment in infancy.
GnRH analogues = first-line for CPP - continuous exposure desensitises pituitary; given as monthly or 3-monthly depot; monitor with LH on stimulation, bone age, and growth; continue until appropriate puberty age; fertility preserved; puberty resumes promptly after stopping.
Kallmann syndrome = hypogonadotrophic hypogonadism + anosmia - absent olfactory bulbs on MRI; GnRH neuron migration failure; micropenis and cryptorchidism in infancy; testosterone for puberty, gonadotrophins for fertility; KAL1 is X-linked with renal agenesis; anosmia differentiates from CDGP.
CAH is NOT screened for in the UK newborn blood spot programme (UK NSC recommendation, 2021 review). The programme covers 9 conditions; CAH is excluded mainly because the 17-OHP test is not accurate enough and many babies present before results return.
MRKH = 46,XX + normal ovaries + absent uterus = primary amenorrhoea with normal puberty - second most common cause of primary amenorrhoea; vaginal dilator therapy is first-line; renal anomalies in 30-40%; surrogacy possible with own eggs; uterine transplantation is emerging.
CAH monitoring = 17-OHP + androgens + bone age + growth velocity - elevated 17-OHP and androgens with advanced bone age = under-replacement; suppressed 17-OHP with growth deceleration = over-replacement; target 17-OHP in upper normal range; annual bone age; balance is challenging.
McCune-Albright = post-zygotic somatic activating GNAS mutation (mosaic, never inherited); triad of café-au-lait ("coast of Maine"), polyostotic fibrous dysplasia and autonomous endocrinopathy with peripheral precocious puberty as the commonest endocrine feature (BSPED).
Hypothalamic hamartoma = most common CNS cause of CPP - ectopic GnRH neurons; benign; treat CPP with GnRH analogues; may cause gelastic (laughing) seizures; surgery for refractory seizures; MRI brain mandatory in all boys with CPP and girls <6 years.
Non-classic CAH = ACTH-stimulated 17-OHP >30-45 nmol/L - milder enzyme deficiency; presents with premature adrenarche, advanced bone age, hirsutism; much more common than classic CAH; not all need treatment; genetic counselling important for family planning.
Oestrogen in Turner syndrome starts at age 11-12 - low-dose, gradually increased to mimic normal puberty; transdermal preferred; add progesterone after 2 years; essential for bone health, cardiovascular protection, and psychosocial well-being; do not delay beyond age 13.
Adrenal crisis prevention = IM hydrocortisone kit at home + family training + steroid emergency card + MedicAlert + written plan for school/GP - IM injection must be given BEFORE going to hospital if vomiting or severe illness; all carers need training; refresh at each clinic visit.
Elevated renin in CAH = inadequate fludrocortisone - increase the dose; target renin in upper normal range; monitor BP, electrolytes, and renin; infants need NaCl supplementation; fludrocortisone may need adjusting in hot weather and illness.
Premature thelarche = isolated breast development + no other pubertal signs + normal growth velocity + normal bone age + prepubertal hormones - benign, reassure and observe; 10-15% may progress to CPP; follow up 6-monthly; if progression occurs, investigate with GnRH stimulation test.
Nutritional rickets = bowed legs + widened wrists + rachitic rosary + low Ca, low PO4, high ALP, undetectable vitamin D - secondary hyperparathyroidism causes phosphaturia; treat with high-dose vitamin D + calcium; prevent with 400 IU/day for all breastfed infants; risk factors: dark skin, breastfeeding, limited sun.
Cushing syndrome = weight gain + growth DECELERATION + cushingoid features + non-suppressible cortisol - growth deceleration distinguishes from simple obesity; iatrogenic is commonest overall; Cushing disease (pituitary adenoma) commonest endogenous cause >5 years; adrenal tumour commonest <5 years.
Kallmann vs nIHH = MRI olfactory bulbs - absent bulbs + anosmia = Kallmann; both have low gonadotrophins and low sex steroids; testosterone for puberty; gonadotrophin therapy for fertility; 10-20% have spontaneous reversal; check for renal anomalies in Kallmann.
Anorexia = FHA (suppressed GnRH) causing hypogonadotrophic hypogonadism → low oestrogen → amenorrhoea + osteopenia - weight restoration is the most effective treatment; OCP does NOT fix bone loss in AN; peak bone mass is lost during critical adolescent years; calcium + vitamin D are adjuncts.
Klinefelter = tall + small testes + gynaecomastia + learning difficulties - 47,XXY; often undiagnosed until infertility in adulthood; early diagnosis enables educational support and timely testosterone replacement; micro-TESE for potential fertility; 1 in 600 males.
Severe vitamin D deficiency = high-dose replacement (6000 IU/day for 1-12 years) for 8-12 weeks + calcium initially to prevent 'hungry bone' hypocalcaemia → maintenance 400-600 IU/day; prevention is 400 IU/day from birth; ALP may rise initially during healing; check levels at 8-12 weeks.
CAIS = 46,XY with female phenotype - androgen receptor mutation; testes present but tissue unresponsive to androgens; breast development at puberty (testosterone→oestrogen) but no menses; gonadectomy after puberty; female gender identity; X-linked recessive.
Physiological bowing = normal in toddlers, resolves by age 3-4 - progresses through valgus to adult alignment by age 7-8; investigate if persisting >3 years, progressive, severe, or asymmetric; exclude rickets and Blount disease; check bone profile if pathological bowing suspected.
XLH = phosphate-wasting rickets with normal vitamin D - PHEX mutation → elevated FGF23 → renal phosphate wasting; burosumab (anti-FGF23) is the new NICE-approved treatment; monitor for nephrocalcinosis; X-linked dominant; most common inherited rickets.
Exclusive breastfeeding + dark skin + northern latitude + no vitamin D supplementation = severe deficiency risk - hypocalcaemic seizures are a medical emergency; IV calcium gluconate slowly with cardiac monitoring; seizures won't respond to anticonvulsants until calcium corrected; prevent with 400 IU/day from birth.
CPP = puberty before 8 (girls) or 9 (boys) with elevated gonadotrophins - GnRH stimulation test confirms; MRI brain mandatory in boys and young girls; idiopathic most common in girls; GnRH analogues suppress the HPG axis; goal is to preserve adult height and allow psychosocial maturity.
CDGP = commonest cause of delayed puberty in boys - family history of late puberty, delayed bone age, will eventually enter puberty spontaneously; low-dose testosterone can kick-start puberty if psychologically distressing; must exclude pathological causes.
Addison's = fatigue + hyperpigmentation + hyponatraemia + hyperkalaemia + hypoglycaemia - low cortisol, high ACTH; short Synacthen test confirms; check adrenal antibodies; screen for adrenoleukodystrophy in boys; lifelong replacement + stress dosing; MedicAlert bracelet essential.
CAH 21-hydroxylase deficiency = elevated 17-OHP + virilisation in 46,XX + salt-wasting risk - most common cause of ambiguous genitalia in females; hydrocortisone + fludrocortisone lifelong; salt-wasting crisis at 1-3 weeks is life-threatening; detected on UK newborn screening.
T1DM + coeliac disease + vitiligo + TPO antibodies = high autoimmune risk - annual TFTs essential; autoimmune thyroid disease affects 15-25% of T1DM children; shared HLA susceptibility; TPO antibodies may precede clinical thyroid disease; screen for other autoimmune conditions regularly.
OI = fragile bones + blue sclerae + normal bone profile - collagen type I defect; bisphosphonates reduce fracture rate; Sillence classification (I-IV); dentinogenesis imperfecta; hearing loss; must be distinguished from NAI; genetic counselling for family.
GH + GnRH analogue = may be considered when height prediction is significantly below target in CPP - not routine; assess bone age and predicted adult height; most effective when started early; evidence is moderate; individualised decision.
Klinefelter = 47,XXY + tall + small testes + elevated gonadotrophins + low testosterone - most common sex chromosome aneuploidy; testosterone replacement; most are infertile but micro-TESE may retrieve sperm; increased breast cancer risk; learning support may be needed; 1 in 600 males.
ALD - check VLCFAs in ALL boys with adrenal insufficiency - ABCD1 gene, X-linked; cerebral demyelination can be halted by early HSCT; adrenal insufficiency may precede neurological disease by years; ALD is now included in newborn screening in some regions.
Craniopharyngioma = sellar/suprasellar mass with calcification + cysts - Rathke's pouch remnant; GH deficiency most common endocrine consequence; DI common post-surgery; hypothalamic obesity is a devastating complication; high recurrence rate; lifelong hormone replacement needed.
D-lactic acidosis in short bowel = bacterial fermentation of carbohydrates producing D-lactate - standard lactate assay may be NORMAL; request specific D-lactate level; neurological symptoms mimic intoxication; manage with carbohydrate restriction and antibiotics for bacterial overgrowth.
Hereditary pancreatitis = PRSS1 mutations (autosomal dominant) - recurrent pancreatitis from childhood; 40% lifetime risk of pancreatic cancer; also test SPINK1 and CFTR; genetic counselling essential; cancer screening from age 40; avoid alcohol and smoking.
AIH treatment withdrawal - consider after ≥2 years of biochemical AND histological remission; relapse rate 60-80%; biopsy before withdrawal; monitor closely; Type 2 AIH relapses more frequently; most patients ultimately need lifelong immunosuppression.
Hepatitis A = faecal-oral, travel-related, self-limiting - anti-HAV IgM confirms acute infection; does NOT cause chronic disease; children <6 are often asymptomatic; vaccine provides excellent prevention; notifiable disease; supportive management only.
Fulminant Wilson disease = Coombs-negative haemolysis + ALF + low ALP - >95% mortality without transplant; D-penicillamine is insufficient; bridge with plasmapheresis/MARS; New Wilson Index ≥11 predicts need for transplant; always consider Wilson disease in young patients with ALF + haemolysis.
NH/GALD = gestational alloimmune liver disease - very high ferritin + extrahepatic siderosis; maternal antibodies cause fetal liver injury; lip biopsy for diagnosis; exchange transfusion + IVIG; 90% recurrence risk - maternal IVIG prophylaxis in subsequent pregnancies.
Wilson disease treatment is LIFELONG - stopping treatment causes potentially fatal copper reaccumulation; compliance is the biggest challenge, especially in adolescents; monitor urinary copper, LFTs, and for D-penicillamine side effects; screen siblings; KF rings fade with effective treatment.
HBV treatment indicated for active disease (elevated ALT + high viral load + liver damage) - entecavir or tenofovir are first-line; most perinatally infected children are immune tolerant and don't need immediate treatment; HCC surveillance for cirrhosis; vaccinate contacts.
Terminal ileum loss = B12 deficiency + bile salt malabsorption - IM B12 replacement lifelong; bile salt loss causes steatorrhoea and fat-soluble vitamin deficiency; loss of ileocaecal valve leads to bacterial overgrowth; increased oxalate stone risk; MCT-enriched diet bypasses bile salt requirement.
PALF = coagulopathy (INR ≥2.0) ± encephalopathy + no pre-existing liver disease - encephalopathy NOT required in children (unlike adults); transfer to liver unit; NAC benefits even non-paracetamol ALF; 30-50% are indeterminate; King's College criteria guide transplant listing.
ALF immediate priorities = correct hypoglycaemia + IV NAC + transfer to liver unit - do NOT correct INR with FFP unless bleeding (masks prognosis); head elevation 30° for cerebral oedema; continuous glucose infusion; early infection screening; King's College criteria for transplant.
GSD type I (von Gierke) = hypoglycaemia + massive hepatomegaly + hyperlipidaemia + lactic acidosis + hyperuricaemia - glucose-6-phosphatase deficiency; uncooked cornstarch is the dietary mainstay; avoid fasting; monitor for hepatic adenomas and renal disease; liver transplant is curative.
SBS prognosis depends on bowel length, ICV, colon, and bowel quality - 25 cm without ICV is challenging but possible; adaptation takes 2-5+ years; enteral feeding is the key driver; 50-70% of infants with SBS eventually achieve enteral autonomy; multidisciplinary intestinal rehabilitation is essential.
PELD score = bilirubin + INR + albumin + growth failure + age - used for children <12 years to prioritise liver transplant allocation; higher score = sicker child = higher priority; MELD used for ≥12 years; exception points for conditions not captured by the score.
Acute rejection post-liver transplant = rising LFTs + fever at 2-6 weeks - biopsy confirms (portal inflammation, bile duct damage, endotheliitis); IV methylprednisolone first-line; occurs in 30-50%; check tacrolimus levels; steroid-resistant rejection needs ATG; chronic rejection causes vanishing bile duct syndrome.
Choledochal cyst = surgical excision with Roux-en-Y hepaticojejunostomy - 10-30% lifetime cholangiocarcinoma risk if untreated; Todani classification (Type I most common); anomalous pancreaticobiliary junction is the cause; MRCP for diagnosis; internal drainage is obsolete.
D-penicillamine side effects include membranous nephropathy - monitor urinalysis regularly; switch to trientine if nephrotoxicity occurs; zinc as adjunct therapy; Wilson disease treatment is lifelong; stopping treatment can cause fatal copper reaccumulation.
SBS after enteral autonomy needs lifelong monitoring - fat-soluble vitamins, B12 (if ileum resected), zinc, selenium, bone health; oxalate stones if colon intact; ongoing dietitian input essential; not cured but adapted - micronutrient deficiencies can develop at any time.
Tyrosinaemia type 1 = FAH deficiency - urine succinylacetone is pathognomonic; nitisinone (NTBC) is first-line and has revolutionised outcomes; dietary tyrosine/phenylalanine restriction; monitor AFP for HCC risk; liver transplant for refractory disease or HCC.
CT abdomen with contrast at >72 hours for pancreatitis complications - assesses necrosis, pseudocyst, abscess; gas in necrosis suggests infection; most paediatric pancreatitis is mild (85%); pseudocysts may resolve spontaneously; infected necrosis needs drainage + antibiotics.
Upper GI contrast study = gold standard for malrotation - shows DJ flexure position; 'corkscrew' sign in volvulus; ultrasound whirlpool sign is supportive but does not exclude malrotation if normal; if the child is deteriorating, proceed to surgery without waiting for imaging.
NAC = specific antidote for paracetamol - replenishes glutathione; most effective within 8 hours but give even if late; King's College criteria guide transplant listing; paracetamol overdose is the commonest cause of adolescent ALF in the UK; psychiatric assessment is essential for deliberate overdose.
Faecal elastase <100 = pancreatic exocrine insufficiency - treat with PERT (Creon) with all meals/snacks; dose based on lipase units/kg/meal; do not crush microspheres; max 10,000 units lipase/kg/day (fibrosing colonopathy risk); PPI may enhance efficacy; supplement fat-soluble vitamins.
SBS outcome depends on bowel length + ICV + colon - 20 cm without ICV is challenging but intact colon helps; colon absorbs fluid, electrolytes, and SCFAs; IFALD is the major cause of mortality; adaptation takes years; multidisciplinary intestinal rehabilitation optimises outcomes.
IFALD = cholestatic liver disease from prolonged PN - maximise enteral feeding; switch to fish oil-based lipids (reduce phytosterol exposure); prevent line sepsis; ursodeoxycholic acid; intestinal ± liver transplantation for severe cases; enteral feeding even in small amounts is protective.
Paediatric liver transplant = whole, split, or living donor grafts - split liver allows one donor to benefit two recipients; living donor from a parent (left lateral segment); lifelong tacrolimus immunosuppression; monitor for rejection, CMV, EBV, and PTLD; excellent outcomes >90% 1-year survival.
Fish oil/mixed lipid emulsions (SMOFlipid/Omegaven) reduce IFALD risk - omega-3 is anti-inflammatory and hepatoprotective; soy-based emulsions have high phytosterols causing liver damage; also cycle PN, maximise enteral feeds, prevent sepsis, and use ursodeoxycholic acid.
AIH = elevated transaminases + raised IgG + positive autoantibodies + interface hepatitis with plasma cells - Type 1 (ANA/ASMA) most common in adolescents; treat with prednisolone + azathioprine (ESPGHAN 2018); 80-90% achieve remission; always exclude Wilson disease and α1-antitrypsin deficiency; treatment often lifelong.
Acute variceal bleed = ABCDE resuscitation FIRST - IV octreotide + antibiotics + urgent endoscopy; avoid over-transfusion (target Hb 70-80); Sengstaken tube for uncontrolled bleeding; discuss with liver transplant centre; terlipressin alternative to octreotide.
Intestinal adaptation = remaining bowel increasing absorptive capacity through villous hyperplasia and mucosal growth - enteral feeding is the most important stimulus; continues for years; GLP-2 analogues (teduglutide) promote adaptation; ileocaecal valve preservation improves outcomes; goal is enteral autonomy.
CRBSI in home PN = S. epidermidis most common - treat with IV vancomycin through the line; try to salvage the line (ethanol lock therapy) unless S. aureus, Candida, or persistent bacteraemia; line removal mandatory for fungaemia; prevention through strict aseptic technique.
Wilson disease = liver disease + neuropsychiatric features + KF rings - low caeruloplasmin, high urinary copper; ATP7B gene; D-penicillamine is first-line; liver transplantation for ALF; treatment is lifelong; autosomal recessive.
Fat-soluble vitamins (A, D, E, K) need bile salts for absorption - cholestasis = deficiency of all four; supplement with specific formulations (alfacalcidol for D, TPGS for E); vitamin K deficiency causes coagulopathy; MCT-enriched feeds bypass the bile salt requirement for fat absorption.
A1AT deficiency (PiZZ) = commonest genetic cause of paediatric liver disease - Z protein accumulates in hepatocytes; liver disease in children, emphysema in adults; PAS-positive diastase-resistant globules on biopsy; no specific liver treatment; transplant for ESLD; smoking dramatically worsens lung disease.
Ascites in liver disease = portal hypertension + hypoalbuminaemia + sodium/water retention - spironolactone first-line; watch for SBP (ascitic fluid neutrophils >250); SBP = IV cefotaxime; therapeutic paracentesis for tense ascites with albumin replacement; refractory ascites → consider TIPS or transplant.
Autoimmune pancreatitis = corticosteroids are first-line - dramatic response; Type 1 = elevated IgG4, Type 2 = associated with IBD; 'sausage-shaped' pancreas on imaging; relapse rate 30-50%; azathioprine for maintenance in relapsing disease; rituximab for refractory cases.
STEP procedure = bowel lengthening for short bowel syndrome - zigzag stapling creates longer, narrower bowel; increases length 50-70%; requires dilated bowel; can be repeated; alternative to Bianchi procedure; intestinal transplant is the last resort for failed adaptation or IFALD.
Variceal management = surveillance + band ligation + propranolol - acute bleed: resuscitate + octreotide + urgent endoscopy; avoid over-transfusion; antibiotics reduce rebleeding; liver transplant is definitive treatment for portal hypertension in biliary atresia.
Azathioprine-induced pancreatitis = idiosyncratic, occurs within first weeks - PERMANENTLY discontinue; rechallenge is contraindicated; switch to methotrexate or biologics; different from dose-dependent myelosuppression which can be managed by dose adjustment; cross-reactivity with mercaptopurine ~50%.
PFIC = genetic cholestasis with severe pruritus - types 1 and 2 have low GGT, type 3 has high GGT; PEBD reduces bile salt pool and relieves pruritus; new IBAT inhibitors are promising; liver transplant for end-stage disease; PFIC2 has highest HCC risk.
H. pylori = triple therapy (PPI + amoxicillin + clarithromycin) for 14 days - only test in children with peptic ulcer disease, not functional pain; confirm eradication with urea breath test or stool antigen at ≥4 weeks post-treatment; clarithromycin resistance is increasing.
IBAT inhibitors (maralixibat for Alagille; odevixibat for PFIC per NICE TA875) block ileal bile-salt reabsorption - key newer treatment for intractable cholestatic pruritus after UDCA, cholestyramine, rifampicin, and naltrexone have failed.
Brentuximab vedotin is an antibody-drug conjugate that delivers MMAE specifically to CD30-expressing Hodgkin cells - the ADC concept combines antibody targeting with potent cytotoxic payloads, and peripheral neuropathy is the main toxicity.
ATG is a polyclonal antibody causing profound T-cell depletion - it carries significant infection risk (CMV, EBV), first-dose reactions require premedication, and it increases PTLD risk through deep immunosuppression.
Vedolizumab selectively blocks gut-homing lymphocyte trafficking via α4β7 integrin - it provides gut-selective immunosuppression without systemic effects, has low PML risk (unlike natalizumab), and has a slower onset than anti-TNF agents.
Holliday-Segar: 100/50/20 mL/kg/day - for this 14 kg child: 1000 + 200 = 1200 mL/day, and post-operative patients may need reduced maintenance (60-80%) due to ADH-mediated water retention.
Co-trimoxazole is the gold standard PCP prophylaxis - given 3 days per week, it also protects against Toxoplasma, and alternatives (dapsone, atovaquone, pentamidine) are available for intolerant patients.
JAK inhibitors block intracellular cytokine signalling via the JAK-STAT pathway - they are oral, rapid-onset alternatives to biologics, and herpes zoster reactivation is a significant risk requiring monitoring.
Sirolimus inhibits mTOR (not calcineurin) via FKBP12 binding - it is non-nephrotoxic but impairs wound healing and causes hyperlipidaemia, making it useful for CNI-sparing in patients with renal impairment.
Folinic acid rescues normal cells from methotrexate toxicity by bypassing the DHFR block - folic acid itself is ineffective because it requires DHFR activation, and glucarpidase is used for life-threatening toxicity with renal failure.
The Holliday-Segar hourly formula is 4-2-1: 4 mL/kg/h for the first 10 kg, 2 mL/kg/h for the next 10 kg, 1 mL/kg/h thereafter - always use isotonic fluid per NICE NG29.
Dupilumab blocks IL-4 and IL-13 via the shared IL-4Rα subunit - it is the first biologic for atopic dermatitis in children, conjunctivitis is a unique side effect, and it avoids generalised immunosuppression.
MMF selectively inhibits IMPDH and de novo purine synthesis in lymphocytes - unlike azathioprine, it does not interact with allopurinol, but GI side effects are common, and it is teratogenic.
Mesna protects against haemorrhagic cystitis from cyclophosphamide by neutralising acrolein in the urinary tract - fertility preservation must be discussed before cyclophosphamide, and hydration plus frequent voiding are additional preventive measures.
Mepolizumab targets IL-5 to reduce eosinophils in severe eosinophilic asthma - different asthma biologics target different points in the type 2 pathway, and phenotyping (allergic vs eosinophilic) guides biologic selection.
IFALD/TPN cholestasis is the major hepatic complication of prolonged parenteral nutrition - prevention centres on early enteral feeding, fish oil-based lipid emulsions, and TPN cycling, and phytosterols in soybean lipid contribute to the pathogenesis.
High-dose steroids are first-line for acute GVHD - approximately 50-70% respond, and ruxolitinib (JAK inhibitor) is the emerging standard for steroid-refractory disease.
L-asparaginase exploits the metabolic vulnerability of ALL cells that cannot make their own asparagine - PEG-asparaginase is now standard, and unique toxicities include pancreatitis, coagulopathy (both thrombosis and bleeding risk), and hypersensitivity.
Erythromycin inhibits CYP3A4 and dangerously elevates tacrolimus levels - azithromycin is the preferred macrolide in transplant patients, and rifampicin is the most potent CYP3A4 inducer that drops tacrolimus levels.
Allopurinol + 6-MP causes fatal myelosuppression by blocking XO metabolism - reduce 6-MP to 25-33% of dose, TPMT testing is mandatory before starting thiopurines, and azathioprine has the same interaction.
PERT must be taken with every meal and snack - dose is based on fat content, maximum 10,000 lipase units/kg/day (risk of fibrosing colonopathy), and enteric-coated granules must not be crushed.
BSPED DKA guidelines emphasise slow rehydration over 48 hours to prevent cerebral oedema - 10 mL/kg bolus only if shocked, insulin at 0.05-0.1 units/kg/hour (no bolus), and add glucose to fluids when BG <14 mmol/L.
Basiliximab blocks CD25 (IL-2 receptor alpha) on activated T-cells - it is well-tolerated induction therapy for standard-risk transplants, given as two doses (day 0 and day 4), and provides IL-2 receptor blockade for 4-6 weeks.
Resuscitate paediatric septic shock with 10-20 mL/kg isotonic crystalloid boluses with reassessment between boluses - hypotension is a late sign in children, and vasoactive agents should be considered if fluid-refractory after 40-60 mL/kg.
Bleomycin causes pulmonary fibrosis because lungs lack bleomycin hydrolase - DLCO monitoring is essential, high-concentration oxygen should be avoided in current and past bleomycin recipients, and cumulative dose >400 units increases risk.
Cytarabine is a pyrimidine analogue that inhibits DNA polymerase - it is the backbone of AML treatment, and high-dose cytarabine can cause cerebellar toxicity and keratoconjunctivitis (prevented by steroid eye drops).
Hypernatraemic dehydration correction must be SLOW - maximum 0.5 mmol/L/hour or 10-12 mmol/L per 24 hours over 48 hours, using isotonic fluid, with frequent sodium monitoring to prevent cerebral oedema.
Transfuse pRBC at 10-15 mL/kg to raise Hb by ~20-25 g/L - use irradiated products for immunosuppressed patients, CMV-negative for neonates, and the bedside identity check is the single most important safety step.
Chronic liver disease requires MCT-based high-energy feeding, fat-soluble vitamin supplementation (ADEK), and sodium restriction for ascites - nutritional optimisation before transplant significantly improves outcomes.
Vincristine inhibits microtubule polymerisation causing peripheral and autonomic neuropathy - it must NEVER be given intrathecally (fatal), is capped at 2 mg, and constipation prophylaxis is essential.
Cisplatin ototoxicity damages outer hair cells of the cochlea and is irreversible - high-frequency loss occurs first, sodium thiosulfate provides otoprotection, and serial audiometry monitoring is mandatory during treatment.
Omalizumab binds free IgE preventing mast cell sensitisation - it requires documented allergic sensitisation and IgE within range, reduces exacerbations by ~50%, and carries a small anaphylaxis risk requiring observation.
CAR-T therapy genetically engineers patient's T-cells to target CD19 on ALL cells - cytokine release syndrome is the major toxicity treated with tocilizumab, and B-cell aplasia is an expected on-target effect.
Nutritional management in paediatric CKD requires adequate energy, controlled protein, and phosphate restriction - enteral tube feeding should be used if oral intake is insufficient, and growth hormone may be needed for growth failure.
Anthracycline cardiotoxicity is dose-dependent and irreversible - lifetime cumulative dose monitoring is essential, dexrazoxane provides cardioprotection, and childhood cancer survivors need lifelong cardiac surveillance.
Mother's own breast milk is the gold standard for preterm nutrition - it reduces NEC risk by up to 50%, should be started as trophic feeds within 24 hours, and donor milk is preferred over formula when MOM is unavailable.
Rasburicase converts uric acid to allantoin via urate oxidase - it is superior to allopurinol for established TLS but is contraindicated in G6PD deficiency due to hydrogen peroxide generation.
NICE NG29 mandates isotonic fluids for ALL children - hypotonic fluids cause fatal hyponatraemia, calculate deficit + maintenance requirements, and monitor electrolytes regularly.
Rituximab depletes B-cells via anti-CD20 for 6-12 months - screen for hepatitis B before treatment, monitor immunoglobulins, and live vaccines are contraindicated during B-cell depletion.
Enteral feeding is the single most important driver of intestinal adaptation in short bowel syndrome - even small volumes of trophic feeds stimulate mucosal growth, and teduglutide (GLP-2 analogue) is a novel pharmacological promoter of adaptation.
Febrile neutropenia requires blood cultures and IV antibiotics within 1 HOUR - piperacillin-tazobactam is common first-line, add antifungals if fever persists >96 hours, and delayed antibiotics increase mortality.
Switch to amino acid formula if eHF fails in CMPA - goat's milk has >90% cross-reactivity, soy is avoided under 6 months, and the milk ladder guides reintroduction from baked milk products upwards.
ADHD has three presentations - predominantly inattentive, predominantly hyperactive-impulsive, and combined; requires symptoms in ≥2 settings and functional impairment; methylphenidate is first-line medication for school-age children with moderate-severe ADHD per NICE NG87.
Expressive language disorder = reduced spoken language with intact comprehension and social communication - always exclude hearing impairment first; good prognosis when receptive language and social skills are preserved; early SALT intervention is beneficial.
DMD = proximal weakness + calf pseudohypertrophy + Gowers' sign + CK >10,000 in a boy aged 3-5 years - X-linked recessive; absent dystrophin; corticosteroids are mainstay of treatment; cardiac and respiratory monitoring essential.
Prader-Willi = paternal 15q11-13 deletion - infantile hypotonia then childhood hyperphagia/obesity; contrast with Angelman (maternal deletion); methylation analysis confirms diagnosis; growth hormone therapy is standard treatment.
Children with ASD need environmental and pedagogical adaptations regardless of IQ - visual supports, social stories, sensory accommodations, and explicit social teaching; mainstream education with support is appropriate for many; TEACCH approach provides structured teaching framework.
2.5-year milestones = runs well, tower of 8 blocks, 3-word sentences, pretend play - the 2-2.5 year review is a key screening point; vocabulary explosion occurs 18-24 months; pretend play emergence is a critical cognitive milestone.
OME (glue ear) = commonest cause of childhood hearing loss - conductive, typically 20-30 dB; 50% resolve in 3 months; grommets indicated for persistent OME with significant hearing loss; always assess speech/language impact.
Melatonin is NICE-recommended for sleep difficulties in ASD after behavioural strategies fail - Slenyto (prolonged-release) is licensed for ASD children aged 2+; start low (2 mg), give 30-60 minutes before bedtime; most effective for sleep-onset delay.
4-year milestones = hops, copies cross, full sentences >90% intelligible, cooperative play, independent dressing - the drawing of a person progresses predictably; pre-school assessment identifies children needing additional support at school entry.
Mature pincer grip = 12 months, NOT 9 months - at 9 months expect immature raking grasp; fine motor development follows a predictable proximal-to-distal, gross-to-fine progression reflecting increasing cortical maturation.
Pronoun reversal and echolalia are characteristic ASD speech features - pragmatic language difficulties (social use of language) are a core feature; ASD is a spectrum with widely varying language abilities; verbal ability does not equate to communication competence.
M-CHAT-R/F is a screening tool, not diagnostic - medium-risk scores need follow-up interview before referral; high-risk scores should be referred directly; positive predictive value improves from ~50% to ~80% with follow-up interview.
6-week milestones = social smile, fixes and follows 90 degrees, head lift in prone, startles to sound - the social smile is the key milestone; absence by 8 weeks warrants further assessment; the 6-8 week check includes NIPE and maternal wellbeing.
Protodeclarative pointing (pointing to share interest) is the most important social milestone at 12-14 months - it demonstrates joint attention; its absence is an early ASD marker; M-CHAT items specifically assess pointing; joint attention interventions are effective.
Red flags for ASD at 12-18 months = absent pointing, absent joint attention, not responding to name, minimal eye contact, repetitive play - refer promptly; always exclude hearing loss; early intervention improves outcomes significantly.
ASD is lifelong but NOT a static condition - early intervention significantly improves outcomes; language by age 5 is the strongest prognostic predictor; approximately 50-70% have normal intellectual ability; parent-mediated interventions have strong evidence.
Protodeclarative pointing (sharing interest) requires joint attention and is specifically impaired in ASD - protoimperative pointing (requesting) may be preserved; this distinction is a key early ASD marker; joint attention interventions are among the most effective early therapies.
DSM-5 ASD requires ALL 3 Criterion A sub-criteria + ≥2 of 4 Criterion B sub-criteria - failure to share enjoyment/interest is a social-emotional reciprocity deficit (A1); distinguish from non-verbal communication deficits (A2) and relationship difficulties (A3).
Infant distraction test at 8-9 months = tests sound localisation from behind at ear level - needs 2 people (distractor + tester); use minimal intensity high and low frequency sounds; failure warrants formal audiological referral.
Delay = slower rate, normal sequence, potential catch-up; Disorder = qualitatively different trajectory, does not resolve - GDD used under 5 years, intellectual disability from 5 years; this distinction guides prognosis and management planning.
EHCP = legally binding document for children 0-25 years with SEN - covers educational, health, and social care provision; local authorities must provide what is specified; annual review; parents can appeal EHCP decisions to the SEND Tribunal.
CVI = most common cause of visual impairment in children - key features are attraction to lights, poor face recognition, inconsistent visual responses; eyes appear structurally normal; caused by brain damage, not eye pathology; MRI brain and VEP are key investigations.
Turner syndrome (45,X) = short girl + webbed neck + shield chest + cardiac defect (BAV/coarctation) + absent puberty - growth hormone for height; oestrogen for puberty; normal IQ with visuospatial difficulties; annual cardiac and thyroid surveillance.
Down syndrome = use condition-specific developmental profiles and growth charts - motor and language are most delayed; social skills are a relative strength; annual TFTs, 6-monthly hearing, and annual vision checks are essential.
Toe-walking in early walkers with normal examination and full ankle dorsiflexion = usually idiopathic, resolving by age 2-3 - red flags include persistent toe-walking, limited dorsiflexion, abnormal neurology, and developmental concerns.
Bottom-shuffling = normal variant causing late walking up to 24-27 months - key features are familial pattern, skipped crawling, normal neurological examination; red flags are abnormal tone, regression, and delays in other domains.
Congenital muscular torticollis = head tilt + chin rotation to opposite side + SCM mass - 90% resolve with physiotherapy; always check for DDH (10-20% association); plagiocephaly is a common secondary complication.
Sensory differences are near-universal in ASD (~90%) - DSM-5 includes them as a diagnostic criterion; can be hyper-reactive, hypo-reactive, or sensory-seeking; affect multiple modalities; OT with sensory integration approach is the key intervention.
Persistent primitive reflexes + increased tone + fisted hands = suspect cerebral palsy - key is failure of cortical inhibition; Moro disappears by 4-6 months, ATNR by 6 months; absent fidgety movements on Prechtl GMA is the strongest early predictor of CP.
Edwards syndrome (trisomy 18) = overlapping fingers + rocker-bottom feet + small for dates + cardiac defects - very poor prognosis with median survival 5-15 days; characteristic fist posture is pathognomonic; second commonest autosomal trisomy.
Fragile X = long face + prominent ears + macro-orchidism + intellectual disability + X-linked family history - commonest inherited cause of learning disability; CGG repeat expansion in FMR1; 30% meet ASD criteria; premutation carriers at risk of FXTAS and premature ovarian insufficiency.
Absent consonant babbling by 10 months + failure to localise sound = hearing assessment is the priority - congenital CMV is the commonest infectious cause of SNHL; hearing loss is the most important treatable cause of speech delay.
Parallel play is normal at 18 months - cooperative play develops by 4-5 years; pretend play from 18-24 months is a key milestone; absence of pretend play should raise ASD concern; Parten's stages describe the social progression of play.
ASQ-3 assesses 5 domains - low communication + low personal-social with intact motor/cognitive suggests social communication difficulty; used at 2-2.5 year health visitor review; ASQ:SE-2 specifically assesses social-emotional development.
Rett syndrome = girl + regression at 6-18 months + hand stereotypies + breathing abnormalities + ataxia - MECP2 mutation; X-linked dominant, almost exclusively girls; four stages; scoliosis and epilepsy are major complications.
Isolated fine motor difficulty with intact gross motor, language, and social skills = consider DCD/dyspraxia - affects ~5% of school-age children; OT assessment with Movement ABC-2; task-oriented therapy approaches are most effective.
Theory of Mind is the understanding that others' thoughts and beliefs differ from one's own - it develops at 4-5 years; tested with false belief tasks (Sally-Anne); impaired in ASD contributing to social difficulties; develops through precursor skills starting with joint attention.
Absent fixing and following at 6 weeks = urgent ophthalmology referral if confirmed at 8 weeks - the critical period for visual development ends around 7-8 years; early detection is essential; red flags include leucocoria, nystagmus, and persistent squint.
DSM-5 no longer uses Asperger syndrome - it is now ASD Level 1; key features include intact language with pragmatic difficulties, intense interests, rigidity, and social interaction challenges; these children often present later when social demands increase.
Developmental quotient = developmental age/chronological age × 100 - this 3-year-old functioning at 18-month level has DQ ~50% indicating moderate delay; investigate with CMA, FMR1 (boys), metabolic screen, and MRI brain.
Psychosocial interventions are first-line for ASD behavioural difficulties - environmental modification, visual supports, and identifying triggers; medication is second-line for specific co-occurring conditions; use ABC analysis to understand and modify behaviour.
Coeliac disease = chronic diarrhoea + faltering growth after gluten introduction + iron-deficiency anaemia - first-line test is IgA tTG; always check total IgA; ESPGHAN no-biopsy pathway if tTG >10× ULN + EMA positive; must be on gluten-containing diet during testing.
Functional constipation = hard stools + overflow soiling + withholding + normal meconium passage - PEG is first-line; disimpact then maintain for months; do NOT stop laxatives abruptly; overflow soiling resolves with treatment; red flags suggest Hirschsprung disease.
Complex perianal Crohn's = infliximab + surgical drainage/seton - MRI pelvis for assessment; combined medical-surgical approach; antibiotics for acute sepsis; simple fistulae may respond to antibiotics alone; affects 20-30% of paediatric Crohn's.
Pyloric stenosis = projectile non-bilious vomiting in a 2-6 week old firstborn male + olive + hungry vomiter - ultrasound confirms; correct hypochloraemic hypokalaemic metabolic alkalosis BEFORE surgery; Ramstedt pyloromyotomy is curative.
Post-Kasai cholangitis = fever + jaundice + acholic stools - the most common early complication; IV antibiotics empirically; prophylactic antibiotics may reduce episodes; each episode damages the liver; fat-soluble vitamin supplementation is essential.
Constipation = laxatives (PEG) are the mainstay, NOT diet alone - disimpact with escalating PEG then maintain for months; regular toilet sitting after meals; do NOT stop laxatives abruptly; adequate fluid and fibre as supportive measures.
Acute pancreatitis = epigastric pain radiating to back + lipase ≥3× ULN - early enteral nutrition (not prolonged fasting); investigate cause (gallstones, drugs, trauma); most paediatric cases are mild and self-limiting; CT with contrast for suspected complications.
Conjugated jaundice + pale stools + dark urine = biliary atresia until proven otherwise - Kasai portoenterostomy must be performed before 60 days for best outcomes; check conjugated bilirubin in ALL prolonged jaundice; use stool colour chart.
Azathioprine-induced leucopenia = withhold drug + check TPMT + urgent review - check TPMT before starting; monitor FBC regularly; pancreatitis requires permanent discontinuation; small lymphoma risk especially in young males on combination therapy.
NEVER stop laxatives abruptly - gradual weaning over weeks to months; maintain toilet habits throughout; premature stopping = commonest cause of relapse; total treatment often 6-12+ months; the rectum needs time to recover normal calibre and sensation.
Anaphylaxis = multi-system allergic reaction; IM adrenaline first-line - 150 µg <6 years, 300 µg 6-12 years, 500 µg >12 years; observe ≥6-12 hours; prescribe 2 auto-injectors (Resuscitation Council UK 2021).
Growth failure in Crohn's = active disease + steroid effects - achieving remission restores growth; EEN is ideal as it induces remission without steroids; early biologics for growth failure; the window for catch-up closes with puberty; monitor growth at every visit.
Corticosteroids in children - growth suppression is the key concern; steroid-sparing strategies are essential in paediatric IBD; taper gradually after >2-3 weeks; teach sick day rules; give VZIg if varicella-exposed while immunosuppressed; steroid card for all patients.
IV iron is preferred in active IBD - oral iron worsens inflammation and is poorly absorbed; anaemia in IBD is multifactorial (iron loss, chronic disease, B12/folate deficiency); target ferritin >100 in active disease; check B12 in ileal Crohn's.
Overflow soiling = involuntary, NOT naughty - punishment is harmful and counterproductive; treat the underlying impaction with PEG; the soiling resolves with treatment; address emotional impact; school support is important; NICE states it is NOT a behavioural problem.
Coeliac + T1DM = common autoimmune association via shared HLA-DQ2/DQ8 - screen all T1DM children for coeliac disease; annual TFTs for coeliac patients; also associated with autoimmune thyroid disease, dermatitis herpetiformis, and IgA deficiency.
Negative SPT and specific IgE do not rule out CMPA - non-IgE CMPA is diagnosed clinically by elimination and rechallenge, can occur in breastfed infants, and is reintroduced via the iMAP milk ladder, with most outgrowing by age 3 (NICE CG116, iMAP UK).
Fructose malabsorption = bloating + diarrhoea improving with fasting, worsening with fruit juice - positive fructose hydrogen breath test; manage by reducing fructose intake; excessive fruit juice is a common culprit; consider in any child with chronic diarrhoea and abdominal pain.
Hirschsprung disease = delayed meconium + distension + explosive stool on rectal exam - rectal suction biopsy is gold standard; absent ganglion cells; short-segment (rectosigmoid) most common; pull-through surgery is definitive; enterocolitis is the most serious complication.
Faecal calprotectin = best non-invasive screening test for IBD - >250 strongly suggests IBD; <50 essentially excludes it; non-specific (elevated in any gut inflammation); higher normal values in infants; useful for monitoring treatment response; NICE-recommended first-line.
GORD with aspiration = aggressive medical treatment then consider fundoplication - respiratory complications include recurrent pneumonia, wheeze, and chronic cough; pH/impedance is gold standard investigation; fundoplication for failed medical therapy or life-threatening complications.
Stool colour chart = simple tool for early biliary atresia detection - pale/acholic stools + prolonged jaundice + dark urine = urgent investigation; check conjugated bilirubin in ANY infant jaundiced >14 days; earlier detection → earlier Kasai → better outcomes.
Coeliac disease = lifelong gluten-free diet - no growing out of it; monitor with serial tTG; screen first-degree relatives (10-15% risk); associated with autoimmune thyroiditis and type 1 diabetes; long-term non-adherence increases lymphoma risk.
Intussusception = colicky pain + sausage-shaped mass + redcurrant jelly stool - peak age 6 months-2 years; ultrasound 'target sign'; air enema reduction first-line (80-90% success); look for pathological lead points in >2 years or recurrent cases.
First-line test = IgA tTG + total IgA - ESPGHAN no-biopsy pathway: tTG ≥10× ULN + positive EMA + HLA-DQ2/DQ8 + symptoms = diagnosis without biopsy; must be on gluten-containing diet during testing; anti-DGP useful in children under 2 years.
Persistent symptoms on a GFD = inadvertent gluten exposure first (NICE NG20); refer to a specialist paediatric dietitian; refractory coeliac disease is rare in children and is a diagnosis of exclusion.
Screen first-degree relatives of coeliac patients - 10-15% risk; also screen type 1 diabetes, Down syndrome, Turner syndrome, IgA deficiency; HLA-DQ2/DQ8 testing can rule OUT risk if negative; silent coeliac disease is common and carries same long-term risks.
ESPGHAN no-biopsy pathway = tTG ≥10× ULN + EMA positive (second sample) + HLA-DQ2/DQ8 positive + symptomatic - PPV >99%; asymptomatic screen-detected patients still need biopsy; reduces need for endoscopy under GA in children.
EEN is first-line induction for paediatric Crohn's - as effective as steroids but promotes growth without steroid side effects; 6-8 weeks of exclusive liquid formula; azathioprine for maintenance; EEN is not effective for UC.
IgE-mediated food allergy = immediate onset, urticaria, angioedema, vomiting - antihistamines for mild; adrenaline for anaphylaxis; provide auto-injector + allergy plan; refer to allergy clinic; 70% tolerate baked egg; 80% outgrow by school age.
CMPA = blood in stool + eczema + irritability in young infant - can occur in breastfed infants; non-IgE is more common than IgE-mediated; maternal exclusion diet for breastfed, eHF for formula-fed; most outgrow by age 5; milk ladder for reintroduction.
Kasai success depends critically on age - <60 days for best outcomes; 50-70% will eventually need liver transplant even after successful Kasai; ascending cholangitis is the main early complication; fat-soluble vitamin supplementation is essential; biliary atresia is the commonest indication for paediatric liver transplant.
Milk ladder = gradual reintroduction from baked → cooked → uncooked milk - each step 2-4 weeks; baking denatures heat-labile whey proteins; non-IgE CMPA usually tolerates baked milk first; supervised by dietitian; IgE-mediated CMPA may need hospital-supervised challenges.
UK first-line CDI in children = oral vancomycin 10 days; stop the precipitating antibiotic, avoid loperamide, wash hands with soap and water (alcohol gel ineffective), notify (UKHSA/NICE NG199).
Non-caseating granulomas are pathognomonic for Crohn's but present in only 30-60% - other key features: skip lesions, transmural inflammation, cobblestoning; UC = continuous, mucosal, crypt abscesses; 10-15% are IBD-unclassified; always perform upper and lower endoscopy in paediatric IBD.
Bilious vomiting in a neonate = surgical emergency until proven otherwise - malrotation with volvulus; upper GI contrast is gold standard; emergency Ladd's procedure; delay risks midgut necrosis and short bowel syndrome; DJ flexure should be left of midline.
Crohn's = mouth to anus, skip lesions, transmural, perianal disease, granulomas - exclusive enteral nutrition is first-line induction in paediatric Crohn's; faecal calprotectin is the best screening test; growth failure may be the presenting feature.
Intra-abdominal abscess in Crohn's = penetrating (B3) disease - IV antibiotics + percutaneous drainage; do NOT start biologics until sepsis controlled; Montreal classification for disease phenotyping; may need surgical resection if refractory.
Safe grains for coeliac = rice, corn, potato, quinoa, buckwheat, pure oats - avoid wheat, barley, rye, and spelt; 'wheat-free' ≠ 'gluten-free'; read labels carefully; Coeliac UK provides essential resources; dietitian involvement is mandatory.
Acute severe UC = ≥6 bloody stools/day + systemic toxicity - IV hydrocortisone first-line; assess response by day 3-5; rescue therapy (ciclosporin or infliximab) if steroid-refractory; colectomy if rescue fails; daily surgical review; PUCAI score guides management.
Toddler's diarrhoea = chronic loose stools with food particles in a thriving child - the '4 Fs' (fat, fibre, reduce fruit juice and fluids); self-limiting by age 5; no investigation needed if thriving; red flags: faltering growth, blood, nocturnal symptoms.
IBD EIMs affect skin, eyes, joints, liver, and mouth - erythema nodosum correlates with disease activity; PSC is independent of disease activity and affects 5-10% of UC; EIMs may precede GI symptoms; affects ~25-30% of paediatric IBD patients.