Curious Case of Alagille Syndrome: Case Report with NANDANIC-NOC Linkage in Care Plan

ABSTRACT

Alagille syndrome is a rare and complex multisystem disorder caused by an autosomal dominant genetic mutation of JAG1 (90% cases) and NOTCH2 (1-2% cases) genes located on the short arm of chromosome 20. This case is reported as per the CARE (for Case Reports, 2013) guidelines. A 14-year old male, known case of chronic cholestatic liver disease of neonatal onset, diagnosed with Alagille syndrome as evident from NOTCH 2 mutation in genetic analysis and paucity of intrahepatic bile ducts on biopsy presented with portal hypertension, growth failure and persistent hyperbilirubinemia.