Overview
Definition
A congenital or acquired neonatal disorder characterized by progressive fibrosing obliteration of the extrahepatic biliary tree, leading to severe cholestasis and biliary cirrhosis.
Epidemiology
The most common cause of neonatal jaundice requiring surgery and the leading indication for pediatric liver transplantation.
Etiology & Risk Factors
- Inflammatory destruction of bile ducts in the perinatal period, likely triggered by viral infection or autoimmune mechanism in genetically susceptible infants
Clinical Symptoms
- Jaundice persisting beyond 2 weeks of age
- Acholic (clay-colored, pale) stools (due to lack of bile pigment in gut)
- Dark, tea-colored urine (due to conjugated bilirubinemia)
- Hepatomegaly and progressive splenomegaly
Clinical Approach
Diagnosis
- Elevated conjugated (direct) bilirubin
- Abdominal ultrasound showing absent gallbladder or 'triangular cord sign' (fibrous remnant at porta hepatis)
- Hepatobiliary iminodiacetic acid (HIDA) scan showing failure of excretion into bowel
- Intraoperative cholangiogram (gold standard)
Management
- Kasai portoenterostomy (surgical hepatoportoenterostomy connecting loop of jejunum directly to hepatic hilum, most successful if done before 60 days of life)
- Liver transplantation (definitive, required in most cases eventually)
Complications
- Liver cirrhosis / Portal Hypertension
- Ascites / Variceal bleeding
- Malnutrition and fat-soluble vitamin deficiency