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.