Alagille Syndrome
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ALGS with EHBDO or biliary atresia: Macroscopic liver findings can help with differential diagnosis

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The differential diagnosis between Alagille syndrome (ALGS) with extrahepatic bile duct obstruction (EHBDO) and biliary atresia (BA) is challenging, but aplasia of the hepatic duct and the macroscopic liver findings can potentially help in differentiation, according to a report.

In this case series, 6 patients with ALGS with EHBDO, who were diagnosed with BA at the referring institution, underwent liver transplantation.

Acholic stool in the neonatal period was found in all patients; BA was diagnosed by cholangiography.

Gross findings of the liver and the porta hepatis in 5 patients included a smooth surface without cirrhosis and aplasia of the proximal hepatic duct, or subgroup “o,” respectively.

Obstruction or absence of the hepatic duct was noted during histopathological examination of the extrahepatic bile duct. No patient was found to have aplasia of the common bile duct.

Takeda M, Sakamoto S, Uchida H, et al. The morphological and histopathological assessment of Alagille syndrome with extrahepatic bile duct obstruction: the importance of the differential diagnosis with subgroup “o” biliary atresia. Pediatr Surg Int. 2021;DOI: 10.1007/s00383-021-04932-z. Epub ahead of print. PMID: 34076772.