FAMILIAL INTRAHEPATIC CHOLESTASIS WITH MENTAL AND GROWTH RETARDATION

Abstract

Four siblings have been described with similar onset and progression of intrahepatic cholestasis. Pruritus at 3 to 5 months was the presenting manifestation and was accompanied by jaundice, an enlarged abdomen, bilirubinuria, and occasional light stools. Liver enlargement, retarded growth, and mild mental retardation have been present in all. The elevation of the serum bilirubin is predominantly of the conjugated fraction and is associated with increased serum alkaline phosphatase, transaminases, cholesterol, and alteration of the electrophoretic pattern of the proteins, with elevation of the α2 and β globulin fractions. Liver biopsies have been characterized by bile stasis in the presence of bile ducts. Two of the children show hepatic fibrosis which appears to be progressive and irreversible. Aside from one aunt with cholangitis and cholangiolitis, there are no family members with liver disease. Autosomal recessive inheritance is suggested.