Ktyman Hanaa, Chaker Dana, Ahmad Haya, Kamil Hazem, Ajlouni Ali
Faculty of Medicine Damascus University Damascus Syrian Arab Republic.
Stemosis for Scientific Research Damascus Syrian Arab Republic.
JGH Open. 2025 Jul 27;9(8):e70236. doi: 10.1002/jgh3.70236. eCollection 2025 Aug.
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.
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.
This case highlights the severe systemic nature of JBS. Early recognition and comprehensive management are crucial for improving outcomes.
约-布综合征（JBS）是一种极为罕见的常染色体隐性遗传性疾病。男女发病率相同。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。
一名6个月大的婴儿因持续腹泻和体重不增前来就诊。根据家族史和医学检查诊断为JBS；除了补液、输血和补充维生素外，胰酶（胰蛋白酶）是一线治疗药物。确切死因尚不清楚。
本病例突出了JBS严重的全身性特点。早期识别和综合管理对改善预后至关重要。
