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Background <p>Alagille 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.</p> Case presentation <p>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.</p> Conclusion <p>This 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.</p>

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Coexistence of Alagille syndrome and biliary atresia in a neonate: a case report

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年12月27日

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  • Si Li,
  • Xiangde Lin,
  • Lili Ma,
  • Xin Lei,
  • Tingting You,
  • Guoxian Huang

摘要

Background

Alagille 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.

Conclusion

This 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.