Bile acid metabolism in mild arteriohepatic dysplasia

Arteriohepatic dysplasia is a rare congenital syndrome in which attenuated peripheral pulmonary arteries are associated with liver impairment. The earliest indication is usually persistent cholestatic jaundice in the first few months after birth. Although this is invariably associated with pruritus, bile acid kinetic studies have not been reported in such patients. This report describes a girl with a particularly mild form of the syndrome who was never observed to be clinically or biochemically jaundiced. Bile acid studies indicated that there was a defect in bile acid excretion but not in uptake or conjugation.