Case Report: Wiskott – Aldrich Syndrome in Patients with Normal Platelet Size in Bahrain

Salem Alrowaijeh, Rana Taqi, Ebrahim Almasry, J. Alkhan
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Abstract

Regardless of ethnicity or geographical distribution, Wiskott-Aldrich syndrome affects 1 in every 100,000 live male births. It has been established that Wiskott-Aldrich syndrome may potentially be a source of autoimmune illnesses and reticuloendothelial malignancies, even though most patients present with the traditional triad of thrombocytopenia, eczema, and recurrent bacterial infections. This case report introduces a 4-year-old boy born with hematemesis, thrombocytopenia, eczema, recurring infections, and, most surprisingly, normal platelet size. Genetic testing confirmed the diagnosis, primarily based on clinical suspicion. Thus the case study attempts to increase awareness among doctors in Bahrain and globally in considering the diagnosis of Wiskott-Aldrich syndrome in any patient with eczema, recurrent infections and thrombocytopenia regardless of having a normal mean platelet volume .
病例报告:巴林血小板大小正常患者的Wiskott - Aldrich综合征
无论种族或地理分布如何,每10万名活产男婴中就有1名患有维斯科特-奥尔德里奇综合征。已经确定Wiskott-Aldrich综合征可能是自身免疫性疾病和网状内皮恶性肿瘤的潜在来源,尽管大多数患者表现为传统的血小板减少症、湿疹和复发性细菌感染。这个病例报告介绍了一个4岁的男孩,出生时有吐血、血小板减少、湿疹、反复感染,最令人惊讶的是,血小板大小正常。基因检测证实了诊断,主要基于临床怀疑。因此,该案例研究试图提高巴林和全球医生的认识,考虑在任何湿疹、复发性感染和血小板减少症患者中诊断Wiskott-Aldrich综合征,无论其平均血小板体积是否正常。
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