Familial Intrahepatic Cholestatic Jaundice

Recurrent jaundice due to intrahepatic cholestasis is reported most often in adults. Some varieties are familial and are associated with failure of excretion of conjugated bilirubin by the liver cell. The original descriptions of these types given by Rotor, Manahan, and Florentin (1948) and Dubin and Johnson (1954) concerned patients with a benign recurrent jaundice. The diseases described by these authors differ in liver histology and certain liver function tests. The fundamental defect appears to be an inability to transport conjugated bilirubin across the cell membrane between the liver cell and the bile canaliculus. We report two sisters both of whom died under 3 years of age from a malignant variety of intrahepatic cholestasis due to a similar difficulty in bile excretion. Both children were born and lived in South Wales; the mother is a native of Wales, but the father is Irish. The parents are not related. The father's uncle had jaundice on several occasions in adult life, but further details are not available.