Abstract

Alagille syndrome is a multisystem disease with intrahepatic bile duct paucity, chronic cholestasis, cardiac murmur, butterfly-like vertebra, posterior embryotoxon, and characteristic facial features. The estimated incidence is 1/30000 population based on the molecular diagnosis. A 15-year-old Chinese man was diagnosed with Alagille syndrome due to JAG1 deletion mutation, chronic cholestasis, facial characteristic and bile duct paucity. The deletion mutation c2519delA in JAG1 gene was confirmed by whole exome sequencing and was unreported before. Abdominal enhanced magnetic resonance imaging (MRI) showed a giant hepatic regenerative nodule adjacent to the right portal vein, with its branch crossing through. Pathology revealed ductular reaction and hepatocyte ballooning in hepatic nodule, was different from bile duct paucity in liver parenchymal. Our case broadens new pathogenic mutation in JAG1 and reports the existence of a giant regenerative nodule in Alagille syndrome patient, which were not mentioned in previous studies in the Chinese population.