Alagille-Watson syndrome

Abstract

Alagille syndrome (AS) is also known as arteriohepatic dysplasia, Watson Miller syndrome, and syndromic bile duct paucity. It is rare autosomal dominant genetic syndrome with incidence of 1 in 100,000 live births. The major manifestations include paucity of interlobular bile ducts, characteristic facies, posterior embryotoxon, vertebral defects, and peripheral pulmonary stenosis. A developmentally normal 14-month-old male toddler born of a non-consanguineous marriage presented with progressive jaundice since 4 months of age and was associated with generalized pruritus, high-colored urine, and pale-colored stools. On examination, broad forehead, pointed chin, low-set eyes, xanthomas over the cheek, and posterior embryotoxon were noticed. Ultrasonography showed hepatomegaly and ectopic kidney, and blood investigations revealed anemia, conjugated hyperbilirubinemia, raised serum glutamic pyruvic transaminase, and serum glutamic oxaloacetic transaminase, with altered triglyceride and cholesterol levels. Liver biopsy revealed paucity of intrahepatic bile ducts and diagnosis of AS. The above case report stresses the need to look for any dysmorphic features in a case of neonatal cholestasis as AS, though rare, is a cause of neonatal cholestasis.