Shortage of bile ducts: aetiology of neonatal cholestasis

Abstract

We report the case of an infant with cholestasis who was diagnosed as syndromic Alagille syndrome. The main feature of the disease is a shortage of bile ducts. It is a hereditary disease, of autosomal dominant transmission with incomplete penetration, secondary to mutations in the JAG1 (more than 90%) and NOTCH21 genes, which induce an alteration of embryological development that affects mesoderm-dependent structures.1 We describe the case and discuss its clinical and radiological findings.