Alagille syndrome is an autosomal dominant disorder also referred to as Alagille- Watson syndrome, syndromic bile duct paucity and arteriohepatic dysplasia. It is a significant cause of neonatal jaundice in older children(2). It is characterized by 5 main characteristics (a) typical peculiar facies – prominent forehead, moderate hypertelorism with deep – set eyes, small pointed chin, and a saddle nose (b) chronic cholestasis (c) butterfly- like vertebral arch defects (seen in 80% of patients)(d) cardiovascular malformations- hypoplasia of pulmonary vascular tree, tetralogy of fallot etc and (e) posterior embryotoxon. (seen in 89% of patients)(3).

The course is characterized by recurrent episodes of cholestasis. The long- term prognosis is related to the severity and duration of early cholestasis, severity of complex cardiovascular abnormalities and the severity of liver disease and its associated portal hypertension.(1)

Liver biopsy shows absence of bile ducts from most portal triads.(1)

Genetic analysis have now shown that it arises from mutation of the JAGI gene located on chromosome 20, which encodes a ligand for Notch receptors(4).

Treatment is supportive with low fat diet, fat soluble vitamin supplements especially vitamin A and E. They also require phenobarbital and cholestyramine for cholestasis. For progressive disease, liver transplantation may be required.(1)

The 20 year predicted life expectancy is 75% for all patients, 80% for those not requiring transplantation and 60% for those requiring liver transplantation(5)