Abstract
Purpose
The differential diagnosis between Alagille syndrome (AGS) with extrahepatic bile duct obstruction (EHBDO) and biliary atresia (BA) is difficult. We report a case series of AGS with EHBDO with detailed validation of the morphological and histopathological features for the differential diagnosis of BA.
Methods
Six liver transplantations (LTs) were performed for AGS with EHBDO. All patients were diagnosed with BA at the referring institution and the diagnosis of AGS was then confirmed based on a genetic analysis before LT. We verified the morphological and histopathological findings of the porta hepatis and liver at the diagnosis of BA and at LT.
Results
All patients had acholic stool in the neonatal period and were diagnosed with BA by cholangiography. The gross liver findings included a smooth and soft surface, without any cirrhosis. The gross findings of the porta hepatis included aplasia of the proximal hepatic duct, or subgroup “o”, in five patients. The histopathological examination of the EHBD also revealed obstruction/absence of the hepatic duct. There were no patients with aplasia of the common bile duct.
Conclusions
Aplasia of the hepatic duct and the macroscopic liver findings may help in to differentiate between AGS with EHBDO and BA.
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MT: designed the study and wrote the draft of the manuscript; SS: helped design the study and critically revised the article for clinical content; HU, SS, YY, AF, TY: collected the data; MK: contributed to the study design and critical revision of the article for clinical content.
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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 37, 1167–1174 (2021). https://doi.org/10.1007/s00383-021-04932-z
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DOI: https://doi.org/10.1007/s00383-021-04932-z