Variable Expressivity in Johanson-Blizzard Syndrome: A Case With Severe Manifestations and a Review of the Literature

IF 1.5 Q3 GASTROENTEROLOGY & HEPATOLOGY

JGH Open Pub Date : 2025-07-27 DOI:10.1002/jgh3.70236

Hanaa Ktyman, Dana Chaker, Haya Ahmad, Hazem Kamil, Ali Ajlouni

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Abstract

Background

Johanson-Blizzard syndrome (JBS) is an exceedingly rare, autosomal recessively inherited disorder. It affects both males and females equally. Exocrine pancreatic insufficiency is the most common finding of the syndrome. The clinical presentation varies significantly among cases.

Case Presentation

A 6-month-old infant was referred due to persistent diarrhea and failure to gain weight. The diagnosis of JBS was made based on family history and medical investigations; pancreatic enzymes (Pancreatin) were the first line of therapy besides the fluids, blood transfusions, and vitamins. The exact cause of death remains unclear.

Conclusion

This case highlights the severe systemic nature of JBS. Early recognition and comprehensive management are crucial for improving outcomes.

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johnson - blizzard综合征的可变表达：1例严重表现及文献复习

背景：约翰逊-暴雪综合征（JBS）是一种极其罕见的常染色体隐性遗传疾病。它对男性和女性的影响是一样的。外分泌性胰腺功能不全是该综合征最常见的表现。不同病例的临床表现差异很大。一个6个月大的婴儿因持续腹泻和体重未能增加而被转介。根据家族史和医学调查作出JBS诊断；胰酶（胰素）是除液体、输血和维生素外的第一线治疗方法。确切的死亡原因尚不清楚。结论本病例突出了JBS的严重全身性。早期识别和全面管理对改善结果至关重要。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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