Alagille syndrome: Is it always cholestasis?

Abstract

Background: Alagille syndrome (AS) is a rare multisystemic AD disease caused by an alteration of NOTCH 2 pathway (prevalently due to JAG1 mutation). It causes chronic cholestasis which is a frequent indication for pediatric liver transplantation. Diagnosis is suspected if chronic cholestasis is accompanied by at least three of the following features: congenital heart disease, vertebral segmentation anomalies, characteristic facies, posterior embryotoxon. Here we describe a patient with a novel mutation without chronic cholestasis.