Neonatal Hepatitis and Biliary Atresia Associated with Trisomy 17–18 Syndrome

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Abstract
Among 19 autopsied cases of 17–18 trisomy syndrome, 10 confirmed by cytogenetic studies, nine diagnosed on the basis of phenotypic characteristics, seven cases of neonatal hepatitis were found, including two cases of biliary atresia. Liveborn infants had early onset of icterus, with elevated total and conjugated serum bilirubin concentrations. All had intrahepatic cholestasis and variable combinations of hepatocellular and portal-tract involvement. Giant-cell transformation was present in two infants. Focal obliteration of bile ducts, secondary to cholangitis, was frequent, and may have been the cause of extrahepatic biliary atresia in two cases.

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