A Case of Nonsyndromic Paucity of Interlobular Bile Ducts in Down Syndrome

ABSTRACT

The nonsyndromic paucity of interlobular bile ducts, which belongs to intrahepatic biliary atresia, is characterized by conjugated hyperbilirubinemia, suggesting cholestasis in newborn infants it has little relationship with extrahepatic congenital abnormalities. Pathologic findings through percutaneous liver biopsy show portal changes(duct paucity and fibrosis) and lobular changes(cholestasis, giant cell transformation, extramedullary hematopoiesis and perisinusoidal fibrosis). The overall incidence of intrahepatic biliary atresia may be as rare as 1 in 50,000 to 75,000 live births. Puri et al first described intrahepatic biliary atresia in Down syndrome in 1975 and Kahn et al revealed 17 cases of nonsyndromic paucity of interlobular bile ducts, including 2 cases of Down syndrome in 1986. The only treatment available in patients, with intrahepatic biliary atresia, is symptomatic because it is not necessary to operate. The prognosis of these patients remains quite varied; approximately half of patients will later develop cirrhosis with portal hypertension and will die from liver failure in the first year of life. We report this case with the review of the associated literatures.