Byler disease progressive familial intrahepatic cholestasis [PFIC]

ABSTRACT

A 20-month old boy delivered to a consanguineous parents presented early in the infantile period with deep jaundice, his investigations showed progressive cholestatic jaundice, high liver enzymes and high GGT. Hepatitis and metabolic errors were excluded. The liver biopsy showed a prominent parenchymal bile stasis without features of bile obstruction or an evidence of paucity of bile ducts. These findings are going with the diagnosis of Byler Disease or progressive familial intrahepatic cholestasis [PFIC3] which is a chronic cholestasis syndrome that begins in infancy and usually progresses to cirrhosis and hepatic failure in the first few years of life. Few patients have survived into the third decade of life without treatment. Liver transplantation is the only effective treatment for this type of the disease