ArticleBMC pediatrics2025
Coexistence of Alagille syndrome and biliary atresia in a neonate: a case report.
Article in BMC pediatrics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundAlagille syndrome (ALGS) is an autosomal dominant disorder caused by gene mutations. Although its cholestatic manifestations may resemble those of biliary atresia (BA), the two conditions are distinct disease entities with fundamentally different pathogenesis, diagnostic approaches, and management strategies. CASE PRESENTATION: We report a case of a female Han Chinese neonate with BA concomitant with ALGS. The diagnosis of ALGS was confirmed based on clinical manifestations and genetic testing findings. After conservative treatment failed to show improvement, operative exploration confirmed BA. The neonate underwent Kasai portoenterostomy and achieved successful recovery. Post-operative follow-up for over eight months has exhibited a favorable prognosis.
conclusionThis is the first report of BA and ALGS co-existence. The concurrent presence of these two distinct hepatopathies creates significant diagnostic pitfalls, highlighting the imperative for heightened clinical vigilance to prevent misdiagnosis, delayed interventions, and inappropriate treatment.
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