# Liver Disease in Children

> Liver disease for FMGE Paediatrics: neonatal cholestasis, biliary atresia Kasai window, Wilson disease, choledochal cyst and Reye syndrome.

- Canonical URL: https://prepelephant.com/topics/fmge/paediatrics/liver-disease-children-fmge
- Exam / course: FMGE · Subject: Paediatrics
- Publisher: PrepElephant (https://prepelephant.com) — Prepared and reviewed by the PrepElephant Academic Review Team
- First published: 2026-10-02
- Last updated: 2026-10-02
- How to cite: "Liver Disease in Children", PrepElephant, https://prepelephant.com/topics/fmge/paediatrics/liver-disease-children-fmge

## 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.