Alagille syndrome and non-syndromic paucity of the intrahepatic bile ducts

Abstract

Alagille syndrome (ALGS) Overview and clinical manifestationsIn 1969, Daniel Alagille first described several families manifesting cholestatic jaundice, and went on to publish a larger series characterizing the clinical phenotype of bile duct hypoplasia with cardiac manifestations (1). Around the same time, Watson and Miller observed a syndrome that they called arteriohepatic dysplasia, characterized by familial neonatal liver disease and pulmonary artery stenosis (2).Clinical criteria of arteriohepatic dysplasia, or ALGS as it is more commonly known, were later described by Alagille et al., and include bile duct paucity (Figure 1), cholestasis, cardiac involvement (heart murmur, peripheral pulmonic stenosis, and/or structural heart defects), characteristic facial appearance, eye findings (most commonly posterior embryotoxon), and skeletal anomalies (most commonly butterfly vertebrae) (3). Renal and vascular findings are also relatively common and are considered to be primary manifestations of the syndrome. ALGS has a strong