Alagille Syndrome with a Previously Undescribed Mutation.

ABSTRACT

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.