Liver Disease in Children
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Direct answer
Any infant still jaundiced at two weeks of age needs a fractionated bilirubin that day, because conjugated hyperbilirubinaemia (direct fraction above 1 mg/dL when total is under 5, or above 20 per cent of a higher total) opens the race between biliary atresia and neonatal hepatitis — and biliary atresia loses its best surgical chance if the Kasai portoenterostomy is not done by roughly 60 days of life. Pale, clay-coloured stools with dark urine and a firm enlarged liver are the biliary atresia flags amid an otherwise "breastfed jaundice" story. In older children the high-yield quartet is Wilson disease (Kayser-Fleischer rings, low ceruloplasmin, Coombs-negative haemolysis), choledochal cyst (pain, jaundice, palpable mass), autoimmune hepatitis (positive autoantibodies, steroid response), and Reye syndrome (aspirin-triggered encephalopathy with hypoglycaemia and hyperammonaemia).
What you must remember
- The two-week rule: jaundice beyond 14 days demands total and direct bilirubin — a raised direct component is never breast-milk jaundice, never physiological.
- Biliary atresia package: acholic stools, dark urine, firm hepatomegaly, raised gamma-glutamyl transferase; ultrasound may show a contracted gallbladder or the triangular cord sign; intraoperative cholangiography confirms; Kasai portoenterostomy is best before 60 days, and failed or late cases go to transplant — the commonest indication for paediatric liver transplant in India.
- Choledochal cyst: the classic triad of abdominal pain, jaundice and a right-upper-quadrant mass is complete in a minority; Todani type I (fusiform dilatation) is commonest; treatment is complete excision with hepaticojejunostomy because of the long-term cholangiocarcinoma risk.
- Wilson disease: liver disease dominates in children (acute failure with Coombs-negative haemolysis, or chronic hepatitis); Kayser-Fleischer rings on slit lamp, ceruloplasmin below 20 mg/dL, high urinary copper, confirmatory hepatic copper; treat with D-penicillamine or trientine plus zinc; screen siblings.
- Autoimmune hepatitis: type 1 (ANA, anti-smooth muscle) commoner in girls with amenorrhoea and growth faltering; type 2 (anti-LKM1) rarer and more aggressive; induction with prednisolone plus azathioprine.
- Galactosaemia: neonatal liver failure with Escherichia coli sepsis, cataracts and reducing substances in urine with fed galactose; treat by stopping lactose and galactose immediately, including switching from breast milk.
- Reye syndrome: aspirin in a viral illness, pernicious vomiting, hypoglycaemia, hyperammonaemia, raised transaminases with normal bilirubin, microvesicular steatosis — the reason aspirin left paediatric prescribing; manage with glucose, mannitol for oedema and supportive critical care.
- Portal hypertension sequelae: variceal bleeds in a child with splenomegaly and a known chronic liver cause — band ligation and carvedilol or propranolol prophylaxis, with shunt or transplant assessment in refractory disease.
Working against the 60-day clock
A six-week-old, exclusively breastfed boy is "still yellow"; the mother was reassured twice. Examine: he is alert, but the liver is firm four finger-breadths, the urine stains the diaper yellow, and the stool brought in a bag is pale beige. Order the direct bilirubin now — at 6.8 mg/dL total with 4.1 direct, this is neonatal cholestasis. Same-admission workup: CBC, liver profile with gamma-glutamyl transferase (high, pointing to obstruction), coagulation with vitamin K correction, ultrasound, and urgent referral for intraoperative cholangiography with Kasai this week — every week past 60 days erodes native-liver survival. Start ursodeoxycholic acid and fat-soluble vitamins, feed aggressively, and warn that post-operative fever with rising bilirubin means cholangitis needing intravenous antibiotics. The counter-case: a well, growing, breast-milk-jaundice infant has unconjugated bilirubin and never needed referral.
Where students slip
The most expensive habit is reassuring prolonged jaundice as "breast milk" without fractionating — the exam describes exactly that reassured infant with acholic stools, and the answer is a direct bilirubin. Second slip: mixing the Wilson screen — ceruloplasmin is low, urinary copper high, and rings may be absent in purely hepatic childhood disease, so a normal slit-lamp does not exclude it. Third: forgetting that acute liver failure with haemolysis in a child is Wilson until proven otherwise, and that the haemolysis is Coombs-negative. Fourth: treating a choledochal cyst with stenting or drainage instead of excision — the malignancy risk makes excision the examined answer.
Frequently asked questions
When must neonatal jaundice be investigated as cholestasis?
Any jaundice persisting beyond two weeks of age needs fractionation — a direct bilirubin above 1 mg/dL (with total under 5) or over 20 per cent of total defines conjugated hyperbilirubinaemia.
Why is early diagnosis critical in biliary atresia?
Kasai portoenterostomy achieves the best bile drainage and native-liver survival when performed before about 60 days of life; delayed surgery drives biliary cirrhosis and earlier transplantation.
How is Wilson disease diagnosed in a child?
Low serum ceruloplasmin, raised 24-hour urinary copper, Kayser-Fleischer rings on slit-lamp examination (absent in some hepatic cases), and elevated liver copper on biopsy, with response to chelation confirming clinically.
What is the treatment of a choledochal cyst?
Complete surgical excision with hepaticojejunostomy (Roux-en-Y), because retained cyst epithelium carries a substantial long-term cholangiocarcinoma risk.
What defines Reye syndrome?
An aspirin-associated, post-viral encephalopathy with hepatic dysfunction — hypoglycaemia, hyperammonaemia and raised transaminases with little or no jaundice, on a background of microvesicular steatosis.