Stones within the biliary system, most often in the gallbladder or extrahepatic bile ducts. Pathogenetically classified as either intrahepatic or extrahepatic cholestasis. End stage liver disease in which the liver appears nodular and fibrosed. Unless treated by transplantation cirrhosis has an invariably lethal outcome. Presents as neonatal jaundice complicated by encephalopathy.
Death usually occurs during the first year of life.
May present as cholestasis, viral hepatitis like disease, fatty change, peliosis hepatis. Autosomal recessive chronic or intermittent jaundice, due to defective intracellular transport of bilirubin. Pathologically characterized by accumulation of brown granular pigment in liver cells and Kupffer cells. Histologically an adeno carcinoma . Equally common in males and females.