Severe familial intrahepatic cholestasis.

Five cases of intrahepatic cholestasis are reported in 4 families in which 7 other children have had the same disease. Cholestasis, beginning before the age of one year, is notable for the absence of lipid retention, evolving by attacks brought on by intercurrent infections with gradual development of fibrosis and fatal cirrhosis before the age of 15. Extrahepatic and interlobular bile ducts are undamaged. The disease is sometimes accompanied by biliary and pancreatic abnormalities, perhaps due to an abnormality in the biliary acid metabolism.