Alagille syndrome with a previously undescribed mutation.

BACKGROUND: Alagille Syndrome is a rare genetic disease characterized by abnormalities of the intrahepatic biliary ducts with cholestasis along with multisystem anomalies. CASE CHARACTERISTICS: An 8-year old child with persisting jaundice, severe itching and failure to thrive. OBSERVATION: Diagnosis of Alagille syndrome was made on the basis of clinical features, typical facies and liver biopsy showing bile duct paucity. Genetic analysis revealed a novel de novo mutation in the JAG 1 gene. OUTCOME: The child was started on ursodeoxycholic acid following which the itching improved. MESSAGE: A novel de novo mutation in JAG 1 gene is described in this child with Alagille Syndrome.