Child health

Jaundice in ~60% of term and ~80% of preterm babies. Timing is everything: 14 days (prolonged) needs a split bilirubin to exclude biliary atresia.

Progressive obliteration of the extrahepatic biliary tree presenting as CONJUGATED neonatal jaundice with pale stools and dark urine. A surgical emergency — outcome depends on Kasai portoenterostomy before ~60 days.

Life-threatening inflammatory bowel necrosis chiefly of preterm/low-birth-weight neonates, often after enteral feeding. Bell staging guides management; pneumatosis intestinalis is the radiological hallmark.

Hypertrophy of the gastric pylorus causing progressive gastric outlet obstruction, classically in first-born MALE infants at 2–8 weeks, with non-bilious projectile vomiting and a hypochloraemic hypokalaemic metabolic alkalosis.

Invagination of one bowel segment into another (usually ileocolic), peaking at 3 months–2 years. Classic triad: colicky pain with drawing-up of legs, redcurrant-jelly stool, and a sausage-shaped abdominal mass.

Failure of one or both testes to descend into the scrotum. Most descend by 3 months; those still undescended at 6 months need referral. Important for fertility and (lifelong) testicular-cancer risk.

Birth before 37 completed weeks. Complications are organ-immaturity driven: RDS (surfactant deficiency), IVH, NEC, retinopathy of prematurity, PDA, apnoea, hypothermia and chronic lung disease.

Chronic lung disease of prematurity — oxygen dependence beyond 28 days of life (or 36 weeks corrected), from lung injury (ventilation, oxygen toxicity) on an immature lung.

A lower respiratory tract infection of infants (<1–2 years, peak <6 months), usually RSV, causing coryza then a wheezy/cracklling respiratory illness. Management is supportive — there is no role for bronchodilators, steroids or antibiotics.

Laryngotracheobronchitis (usually parainfluenza) in 6 months–6 years, causing a BARKING cough, stridor and hoarseness, typically worse at night. A single dose of oral dexamethasone is the cornerstone.

A notifiable respiratory infection (Bordetella pertussis) with paroxysmal coughing fits, an inspiratory "whoop", and post-tussive vomiting. Dangerous (apnoea) in unimmunised infants; prevented by maternal antenatal vaccination.

A notifiable toxin-mediated illness from group A streptococcus: sore throat and fever with a fine SANDPAPER rash, strawberry tongue and circumoral pallor. Treated with penicillin to prevent complications.

A highly contagious notifiable viral exanthem: prodromal fever, cough, coryza and conjunctivitis with pathognomonic KOPLIK SPOTS, followed by a cephalocaudal maculopapular rash. Resurgent with falling MMR uptake.

A mild notifiable viral exanthem — but devastating in pregnancy (congenital rubella syndrome). Features a pink maculopapular rash and tender suboccipital/postauricular lymphadenopathy.

Primary VZV infection: an itchy vesicular rash in successive crops at different stages (macule → papule → vesicle → crust), with mild systemic upset. Reactivation later causes shingles.

A notifiable viral infection, resurgent where MMR uptake is low, classically causing PAROTITIS (parotid gland swelling). Complications — orchitis, viral meningitis, pancreatitis and deafness — are the high-yield part.

A medium-vessel vasculitis of young children and the leading cause of acquired paediatric heart disease — coronary artery aneurysms. Diagnosed clinically: fever ≥5 days plus ≥4 of five features. Crucially it does NOT respond to antibiotics.

Self-limiting inflammation of mesenteric lymph nodes, often following a viral URTI, causing abdominal pain that mimics appendicitis — a diagnosis of exclusion once appendicitis is ruled out.

Immune-mediated reaction to cow milk protein, IgE-mediated (rapid: urticaria, vomiting, anaphylaxis) or non-IgE (delayed: reflux, eczema, blood/mucus in stool, colic). Managed by cow-milk elimination with a suitable formula.

Failure to gain weight at the expected rate — a sustained drop across centiles. Causes span inadequate intake, malabsorption, increased requirement and psychosocial factors; most cases are non-organic.

Onset of secondary sexual characteristics before 8 years in girls or 9 years in boys. Split into CENTRAL (gonadotropin-dependent — premature activation of the HPG axis, pubertal LH/FSH) and PERIPHERAL (gonadotropin-independent — sex steroids from a gonadal/adrenal/exogenous source, suppressed LH/FSH). Central is usually idiopathic in girls but more often pathological in boys (a CNS lesion).

A seizure occurring with fever in a child 6 months–5 years WITHOUT CNS infection or a prior afebrile seizure. Simple febrile convulsions are benign; the priority is excluding meningitis/encephalitis.

A spectrum from acetabular dysplasia to frank dislocation, detected by newborn screening (Barlow/Ortolani) and selective USS. Risk factors: breech, female, family history, firstborn, oligohydramnios.

Idiopathic avascular necrosis of the femoral head in children (typically 4–8 years, boys), causing a gradual painless limp and hip/knee pain, with collapse then revascularisation of the femoral head.

Postero-inferior slip of the femoral head epiphysis through the growth plate, classically in OVERWEIGHT ADOLESCENT boys (10–15y). The leg lies externally rotated; obligatory external rotation on hip flexion is characteristic.

The commonest autosomal trisomy (trisomy 21), usually from meiotic non-disjunction (risk rises with maternal age). Characteristic facies, hypotonia, learning disability and multisystem associations.

Loss of one X chromosome (45,X) in phenotypic females, causing short stature, ovarian dysgenesis (primary amenorrhoea/infertility) and characteristic features. The classic cardiac lesion is coarctation/bicuspid aortic valve.

An extra X chromosome (47,XXY) in males, causing primary hypogonadism — tall stature, small firm testes, gynaecomastia and infertility, often diagnosed at puberty or during infertility work-up.

An autosomal dominant connective tissue disorder (FBN1/fibrillin-1) affecting the skeleton, eyes and cardiovascular system — the last carrying the lethal risk of aortic root dilatation and dissection.

A group of heritable connective-tissue disorders of collagen, causing joint hypermobility, skin hyperextensibility and tissue fragility. The vascular (type IV) subtype is dangerous — arterial/organ rupture.

The commonest serious autosomal recessive disease in white populations — CFTR chloride-channel dysfunction causing thick secretions affecting lungs, pancreas, gut and reproductive tract. Detected on newborn bloodspot screening.

An autosomal dominant neurodegenerative disorder from a CAG trinucleotide-repeat expansion in HTT, presenting in adulthood with chorea, cognitive decline and psychiatric change. Shows ANTICIPATION (earlier/worse over generations).

An inherited bone-marrow failure / DNA-repair disorder. The exam exemplar: a child who LOOKS like leukaemia (pancytopenia, bruising) but has CONGENITAL anomalies — short stature, absent/hypoplastic radii and thumbs, café-au-lait spots — that flip the diagnosis away from ALL.

Leukaemia (mostly ALL) is the commonest childhood cancer, then CNS tumours and lymphoma. Retinoblastoma is the classic intraocular malignancy (leukocoria). Each has a discriminating presentation the exam tests.

Development is assessed across four domains; delay can be global (all domains — think genetic/metabolic/antenatal insult) or specific (one domain). The exam tests the limit ages (the age by which a skill should be present) and the regression/asymmetry red flags, NOT the median ages.

The heel-prick test taken on day 5 (day 5–8) screens every UK baby for 9 serious but treatable conditions: sickle cell disease, cystic fibrosis, congenital hypothyroidism, and six inherited metabolic diseases — with tyrosinaemia type 1 added more recently. Early detection prevents death and disability.

The sudden, unexpected death of an apparently well infant (peak 2–4 months) that remains unexplained after investigation. Several risk factors are MODIFIABLE — the "Back to Sleep" advice. A new death is also a safeguarding consideration.

A group of autosomal-recessive enzyme defects of cortisol synthesis; >90% are 21-hydroxylase deficiency. Cortisol ± aldosterone deficiency with shunting of precursors into ANDROGENS. Presents as virilisation and, in the salt-wasting form, a life-threatening neonatal adrenal crisis.

The commonest INHERITED cause of learning disability (Down syndrome is commoner overall but usually not inherited). An expansion of the CGG repeat in the FMR1 gene silences it; shows anticipation. Boys are more severely affected than girls.

A common viral exanthem of infants (6 months–2 years): several days of HIGH fever, then — as the fever breaks — a rose-pink maculopapular rash. A classic cause of a febrile convulsion.

Fifth disease — a mild parvovirus B19 exanthem with bright "slapped cheek" facial erythema then a lacy rash. Important for its complications: fetal hydrops in pregnancy, aplastic crisis in haemolytic anaemia, and chronic anaemia in immunocompromise.

A common, mild enteroviral illness of young children: oral ulcers/vesicles plus vesicles on the hands and feet. Self-limiting and unrelated to the animal foot-and-mouth disease.

The commonest cause of acute hip pain/limp in young children (3–10y), typically days after a viral URTI. A self-limiting diagnosis of exclusion — the critical task is to exclude SEPTIC ARTHRITIS.

Bacterial infection of a joint — an orthopaedic EMERGENCY, because pus destroys cartilage within hours. In children the hip/knee are common, and the discrimination from transient synovitis is the high-yield task.

The commonest childhood vasculitis — IgA immune complexes deposit in small vessels. A classic tetrad of palpable purpura, arthralgia, abdominal pain and renal involvement, often after an upper respiratory infection.

Isolated thrombocytopenia from immune platelet destruction, typically 1–2 weeks after a viral infection in an otherwise well young child. Usually self-limiting; the task is to exclude sinister causes of low platelets.

Arthritis persisting >6 weeks with onset before 16 years, of unknown cause, with several subtypes. Systemic JIA (Still disease) has the classic quotidian fever + salmon-pink rash; oligoarticular is the commonest and carries an uveitis risk.

An immune reaction to gluten causing villous atrophy and malabsorption. In children it classically presents with faltering growth and GI symptoms, and is associated with type 1 diabetes and other autoimmunity. Diagnosis is serology-led while still eating gluten.

An autosomal-dominant condition (RAS-MAPK pathway, often PTPN11), sometimes called "male Turner" for the overlapping phenotype — but it affects BOTH sexes, has a NORMAL karyotype, and the classic cardiac lesion is pulmonary stenosis (not coarctation).

The two other autosomal trisomies after Down syndrome — both far more severe, with high perinatal mortality. High-yield for their distinguishing features and for antenatal screening.

"Brittle bone disease" — a collagen defect causing recurrent fractures with minimal trauma. A key NON-ACCIDENTAL-INJURY mimic: a child with multiple fractures plus supporting features (blue sclerae, family history) may have OI rather than abuse.

The commonest congenital heart defect — a hole in the interventricular septum giving a left-to-right shunt. Small VSDs are often asymptomatic with a loud murmur and close spontaneously; large VSDs cause heart failure in infancy and, if untreated, pulmonary hypertension and eventually Eisenmenger (shunt reversal). Associated with Down syndrome. A PANSYSTOLIC murmur at the lower left sternal edge.

A defect in the interatrial septum (ostium secundum commonest; ostium primum associated with AVSD/Down). Left-to-right shunt, often asymptomatic in childhood and presenting in adulthood with arrhythmia, heart failure or a stroke (paradoxical embolism). The signature is an EJECTION SYSTOLIC murmur with a FIXED, widely-split second heart sound. Closed if significant.

Failure of the ductus arteriosus (the fetal aorta-to-pulmonary-artery connection) to close after birth, leaving a left-to-right shunt. Commoner in preterm infants and congenital rubella. Classic CONTINUOUS 'machinery' murmur with a collapsing/bounding pulse. The management pearl is dual: in a preterm PDA, a PROSTAGLANDIN-INHIBITOR (ibuprofen/indometacin) CLOSES it — but in DUCT-DEPENDENT congenital heart disease, PROSTAGLANDIN (alprostadil) is given to KEEP it open.

A defect of the central crux of the heart — the atrioventricular septum and AV valves — ranging from partial (primum ASD + cleft mitral valve) to complete (a common AV valve with an atrial and ventricular component). Strongly associated with DOWN SYNDROME. Complete AVSD causes early heart failure and pulmonary hypertension; detected on antenatal/newborn screening and needs surgical repair.

Narrowing of the aortic arch (usually around the duct/just distal to the left subclavian). Critical coarctation presents in the NEONATE with collapse/shock as the duct closes (DUCT-DEPENDENT systemic circulation) → prostaglandin is life-saving. Milder coarctation presents later with hypertension, radio-femoral delay and weak femoral pulses. Associated with Turner syndrome and bicuspid aortic valve.

Narrowing of the pulmonary valve/right ventricular outflow tract, obstructing flow to the lungs. Mild-moderate is acyanotic with an ejection systolic murmur; CRITICAL pulmonary stenosis in the neonate is duct-dependent (needs prostaglandin). A feature of Tetralogy of Fallot and Noonan syndrome. Treated with balloon valvuloplasty.

Congenital narrowing of the aortic valve/left ventricular outflow, frequently a bicuspid aortic valve. Mild-moderate is acyanotic with an ejection systolic murmur radiating to the carotids; CRITICAL neonatal aortic stenosis is duct-dependent (systemic circulation) → collapse on duct closure, needing prostaglandin. Risk of sudden death with exercise in severe disease. Associated with Turner syndrome and Williams syndrome (supravalvular).

The commonest CYANOTIC congenital heart disease beyond the neonatal period — four features: PULMONARY STENOSIS, a large VSD, an OVERRIDING AORTA and RIGHT VENTRICULAR HYPERTROPHY. The degree of RV outflow obstruction determines cyanosis. Hypercyanotic 'TET SPELLS' (acute cyanosis relieved by SQUATTING/knee-chest) are characteristic. Boot-shaped heart on CXR. Surgical repair in infancy.

A cyanotic lesion where the aorta arises from the right ventricle and the pulmonary artery from the left — two parallel circulations. Deoxygenated blood recirculates to the body; survival depends on MIXING (PDA/PFO/VSD). Presents with profound CYANOSIS in the FIRST DAY OR TWO of life. 'EGG-ON-A-STRING' heart on CXR. Emergency: PROSTAGLANDIN to keep the duct open, often balloon atrial septostomy, then arterial switch surgery.

Absence of the tricuspid valve, so there is no inlet to the right ventricle (which is hypoplastic). Blood must shunt right-to-left at the atrium and depend on a VSD/duct for pulmonary flow — a CYANOTIC, duct-dependent single-ventricle lesion. Presents with neonatal cyanosis; managed with prostaglandin then staged single-ventricle (Fontan) surgery.

All four pulmonary veins drain abnormally into the systemic venous circulation (e.g. SVC, coronary sinus, or below the diaphragm) instead of the left atrium — so oxygenated blood returns to the right heart and mixing (via an ASD) is obligatory. OBSTRUCTED TAPVR (especially infradiaphragmatic) is a neonatal emergency with severe cyanosis and pulmonary oedema ('snowman'/figure-of-8 heart in the unobstructed supracardiac form). Surgical repair.

A single common arterial trunk arises from the heart (overriding a VSD) and gives off the systemic, pulmonary and coronary arteries — mixed blood goes everywhere, causing cyanosis plus high pulmonary flow and early heart failure. Associated with 22q11 deletion (DiGeorge). Needs early surgical repair.

Downward (apical) displacement of the tricuspid valve leaflets into the right ventricle, 'atrialising' part of the RV and causing tricuspid regurgitation, a small functional RV and (with an ASD) right-to-left shunting/cyanosis. Classically associated with maternal LITHIUM exposure in pregnancy. Wide spectrum from neonatal cyanosis/heart failure to incidental adult presentation; associated with WPW (accessory pathway).

Severe underdevelopment of left-sided structures (left ventricle, aortic/mitral valves, ascending aorta) so the left heart cannot support the systemic circulation — which becomes entirely DUCT-DEPENDENT. The neonate collapses with shock as the duct closes. Prostaglandin is life-saving; management is staged Norwood surgery (or transplant), with a guarded prognosis.

A benign murmur in a structurally normal heart — very common in children, especially during fever/illness (increased flow). Recognised by the '7 S's': Soft, Systolic, aSymptomatic, left Sternal edge, no radiation, normal heart Sounds, and changes with poSture/Sitting. The skill is confidently distinguishing it from pathology so as to reassure (and not over-investigate) while referring the murmurs that need an echo.

The end-stage of a large uncorrected left-to-right shunt (VSD, ASD, PDA, AVSD): chronic pulmonary overcirculation causes irreversible pulmonary hypertension until pulmonary pressure exceeds systemic, REVERSING the shunt to right-to-left → CYANOSIS. Once established it is irreversible and contraindicates shunt closure; managed with pulmonary vasodilators and ultimately heart-lung transplant. Pregnancy is very high-risk.

Surfactant deficiency in the immature lung — the commonest respiratory problem of PRETERM infants. Without surfactant, alveoli collapse, causing respiratory distress from birth/within hours, with a 'ground-glass' CXR and air bronchograms. Antenatal corticosteroids (to the mother) and postnatal surfactant ± respiratory support are the mainstays; complications include pneumothorax and chronic lung disease (BPD).

Abnormal vascular proliferation of the developing retina in PRETERM/low-birth-weight infants, driven by prematurity and oxygen exposure. Ranges from spontaneous regression to retinal detachment and blindness. Detected by SCREENING (eligible preterm infants are examined at set times); treated with laser/anti-VEGF for threshold disease. (Cross-references ophthalmology.)

Bleeding into the germinal matrix/ventricles of the PRETERM brain, from the fragile immature vasculature — commonest in the first few days, especially in the very preterm/unstable infant. Graded I-IV; severe IVH causes post-haemorrhagic hydrocephalus and neurodevelopmental impairment. Detected by cranial ultrasound screening; management is supportive with monitoring for hydrocephalus.

Pauses in breathing (>20 seconds, or shorter with bradycardia/desaturation) due to immature central respiratory control in PRETERM infants. A diagnosis of exclusion — apnoea in a neonate must first prompt a search for an underlying cause (sepsis, hypoglycaemia, IVH, NEC, anaemia, temperature). Managed with caffeine, gentle stimulation and respiratory support.

The commonest cause of respiratory distress in TERM/late-preterm newborns — delayed clearance of fetal lung fluid, especially after CAESAREAN section (no labour to squeeze the lungs). Tachypnoea develops soon after birth and RESOLVES within 1-2 days. CXR shows fluid in the horizontal fissure and prominent perihilar markings. Supportive (oxygen); a diagnosis of exclusion (cover for sepsis until clear).

Respiratory distress in a TERM/POST-TERM infant who has passed and aspirated MECONIUM (a sign of fetal distress/hypoxia) before/during birth. Meconium obstructs and inflames the airways and inactivates surfactant, causing distress, air-trapping and persistent pulmonary hypertension. CXR shows patchy infiltrates/hyperinflation. Supportive intensive care; risk of pneumothorax and PPHN.

Brain injury from a perinatal hypoxic-ischaemic insult (birth asphyxia) in the TERM infant — from cord/placental problems, shoulder dystocia, etc. Presents with a depressed, encephalopathic newborn (poor tone, poor feeding, reduced consciousness, seizures). Graded (Sarnat I-III). THERAPEUTIC HYPOTHERMIA (cooling) within 6 hours of birth is the key neuroprotective treatment for moderate-severe HIE.

Bloodstream/serious bacterial infection in the newborn. EARLY-onset (72 h) is often hospital-acquired (coagulase-negative staph in line-related infection). Non-specific presentation — a LOW THRESHOLD to investigate and treat with antibiotics is essential.

The Newborn and Infant Physical Examination — a systematic head-to-toe screen performed within 72 hours of birth and again at 6-8 weeks, targeting four conditions especially: the EYES (red reflex — congenital cataract/retinoblastoma), the HEART (murmurs, femoral pulses, saturations — congenital heart disease), the HIPS (Barlow/Ortolani — developmental dysplasia), and the TESTES (undescended). It is the screen that catches treatable congenital conditions early.

Low blood glucose in the newborn — common transiently in the first hours, but persistent/symptomatic hypoglycaemia risks neurological injury. At-risk groups: infants of DIABETIC mothers (hyperinsulinism), small/large-for-gestational-age, preterm, unwell/septic, hypothermic. Managed by feeding and, if low/symptomatic, buccal dextrose gel or IV glucose; persistent hypoglycaemia needs investigation (hyperinsulinism, metabolic, endocrine).