[Liver cell carcinoma as a late complication of Alagille syndrome (arterio-hepatic dysplasia)].

Abstract

The Alagille syndrome which is also known as arterio-hepatic dysplasia is an autosomal dominant inherited disorder. In several cases cytogenetic studies revealed an interstitial deletion of the short arm of chromosome 20. The hypoplasia or paucity of the interlobular bile ducts causes a chronic intrahepatic cholestasis. The association with facial dysmorphia, embryotoxon posterior, pulmonary stenosis and vertebral deformities are required for the diagnosis of the complete Alagille syndrome. The occurrence of hepatocellular carcinoma as a late complication of the Alagille syndrome was recognized only 11 years after the first publication by Alagille et al. So far 15 cases complicated by hepatocellular carcinoma have been reported. There is one family where all four siblings suffered from hepatocellular carcinoma. Our own case concerns a 31 year old man who died of hepatocellular carcinoma. The postmortem study of his medical history reaching back to childhood allowed the diagnosis of an unrecognized Alagille syndrome.