[Bylers disease: four cases]

Bylers disease also called progressive familial intrahepatic cholestasis is an autosomal recessive hereditary cholestasis. It usually begins around the neonatal period with early pruritus and it is caused by an abnormality in the hepatocyte metabolism of bile acids. The authors of this article present four cases of children afflicted with this rare condition managed in the Department of Pediatrics III of the Childrens Hospital of Casablanca Morocco between 1980-2000. All the children presented with jaundice firm isolated hepatomegaly and half of them had consanguineous parents. Their age varied between 27 days and two-and-a-half years with a mean of 14 months with male predominance and they all were seen for jaundice. The familial nature of this disease was noted in three of the cases and hepatocellular failure was recorded in one case punch biopsy of the liver was performed in three cases and showed extensive portal fibrosis with a proliferation of bile ducts on the periphery of the portal space. The serum activity of gamma-glutamyl transpeptidase as well as the cholesterol level were normal in all patients while the serous transaminases were elevated in the majority of cases. The treatment instituted for the three cases was phenobarbital and/or cholestyramine. Consequently one child was lost to follow-up at the age of 27 days in a picture of hepatocellular failure another died and the other two presented with attacks of jaundice every 4 to 5 months. In all cases liver transplantation remains the treatment of choice in cases of failure of medical treatment and in the presence of cirrhosis.