Paediatric Gastroenterology, Hepatology and Nutrition
Questions here test the recognition of neonatal cholestasis as a surgical emergency, the investigation of failure to thrive and chronic diarrhoea, and the practical management of dehydration and reflux in infancy.
Neonatal cholestasis
Any infant jaundiced beyond 14 days needs a fractionated bilirubin. Conjugated bilirubin above 17 micromol/L (1 mg/dL) is always pathological: biliary atresia, choledochal cyst, metabolic disease, alpha-1-antitrypsin deficiency, cystic fibrosis, infection, total parenteral nutrition. Biliary atresia requires Kasai portoenterostomy, ideally before 60 days of life; pale stools and dark urine are the parent-reported clues. Breast-milk jaundice is unconjugated and never causes pale stools.
Gut and nutrition
- Gastro-oesophageal reflux in infancy is physiological; thickening feeds and positioning suffice. Proton pump inhibitors are reserved for proven oesophagitis.
- Coeliac disease: IgA tissue transglutaminase plus total IgA (to detect IgA deficiency), then duodenal biopsy in most children; anti-endomysium as confirmation.
- Cow's milk protein allergy: elimination and reintroduction, not IgG food panels.
- Dehydration: WHO oral rehydration solution for mild to moderate dehydration, 50 mL/kg over 4 hours plus replacement; intravenous fluid only for shock, ileus or failed oral therapy.
- Complementary feeding is not started before 17 weeks and should begin by 26 weeks.
Worked example
A 5-week-old, breastfed, still jaundiced, with pale stools and dark urine. The total bilirubin is 180 micromol/L with a conjugated fraction of 95 micromol/L. This is conjugated hyperbilirubinaemia. Urgent referral, ultrasound, stool colour chart, sweat test, alpha-1-antitrypsin and metabolic screen, with Kasai considered if biliary atresia is confirmed. Reassuring the family about breast-milk jaundice would be a serious error.
Inflammatory bowel disease and liver
Chronic diarrhoea with weight loss, anaemia and perianal disease suggests Crohn disease; growth failure may be the first sign. Autoimmune hepatitis presents with raised transaminases and immunoglobulins; Wilson disease must be excluded in any child with liver disease and a psychiatric or neurological change.
Traps
Not fractionating bilirubin in prolonged jaundice; ordering coeliac serology without checking total IgA; using prokinetics and PPIs for normal infant reflux; missing growth failure in Crohn disease.