Department of Paediatrics and Child Health, Muhimbili University of Health and Allied Sciences (MUHAS), Dar es Salaam, Tanzania.
Department of Paediatrics and Child Health, School of Medicine, MUHAS, 9 United Nations Road, Upanga West, P.O. Box 65001, Dar-es-salaam, Tanzania.
J Med Case Rep. 2022 Jul 27;16(1):301. doi: 10.1186/s13256-022-03517-1.
Wiskott-Aldrich syndrome is a rare X-linked primary immunodeficiency that mostly presents with a classic triad of eczema, microthrombocytopenia, recurrent infections, and increased risk of autoimmunity/malignancies.
We present an 8-month-old African male, born from nonconsanguineous parents and who presented with a history of eczematous skin rash since day 9 of life, with recurrent sinus infections, otitis media, and skin abscesses. An elder male sibling who had similar symptoms passed away during infancy. Investigations were consistent with microthrombocytopenia and significantly raised immunoglobulin E, while immunoglobulin A and immunoglobulin G were moderately elevated with normal immunoglobulin M. Genetic testing revealed the patient to be hemizygous for a pathogenic Wiskott-Aldrich syndrome gene variant (NM_000377.2:c.403C>T). He was managed conservatively with supportive treatment until he died a year later.
Despite Wiskott-Aldrich syndrome being a rare disease, it should be considered as a differential in any male child who presents with microthrombocytopenia and recurrent infections, especially in low-resource settings where genetic testing is not routinely available.
Wiskott-Aldrich 综合征是一种罕见的 X 连锁原发性免疫缺陷病，主要表现为湿疹、血小板减少症、反复感染和自身免疫/恶性肿瘤风险增加的经典三联征。
我们介绍了一位 8 个月大的非洲男性，出生于非近亲父母，自出生第 9 天起就有湿疹样皮疹病史，反复出现鼻窦感染、中耳炎和皮肤脓肿。一个有类似症状的年长男性兄弟在婴儿期就去世了。检查结果符合血小板减少症和显著升高的免疫球蛋白 E，而免疫球蛋白 A 和免疫球蛋白 G 中度升高，免疫球蛋白 M 正常。基因检测显示患者为致病性 Wiskott-Aldrich 综合征基因突变（NM_000377.2：c.403C>T）的半合子。他接受了保守治疗，包括支持性治疗，直到一年后死亡。
尽管 Wiskott-Aldrich 综合征是一种罕见疾病，但在任何出现血小板减少症和反复感染的男性儿童中，尤其是在遗传检测常规不可用的资源有限的环境中，都应考虑作为鉴别诊断。
