Department of Infectious Disease, Ali Asghar Children's Hospital, Faculty of Medicine, Iran University of Medical Sciences, Tehran, Iran.
Department of Allergy and Immunology, Ali Asghar Children's Hospital, Faculty of Medicine, Iran University of Medical Sciences, Tehran, Iran.
Natl Med J India. 2021 Jan-Feb;34(1):24-26. doi: 10.4103/0970-258X.323441.
Wiskott-Aldrich syndrome (WAS) is an X-linked recessive disorder, characterized by thrombocytopenia, eczema and recurrent infections. We report a 4-month-old boy who presented with respiratory distress, petechiae, organomegaly and eczema. He was admitted to the paediatric intensive care unit because of severe respiratory distress due to Cytomegalovirus (CMV) infection. As peripheral blood smear showed microthrombocytopenia, Sanger gene sequencing was performed, which confirmed the diagnosis of WAS. This rare combination of possible congenital CMV infection in the background of WAS, misled the initial diagnosis.
威特综合征（WAS）是一种 X 连锁隐性遗传疾病，其特征为血小板减少症、湿疹和反复感染。我们报告了一例 4 月龄男婴，因呼吸窘迫、瘀点、肝脾肿大和湿疹而就诊。他因巨细胞病毒（CMV）感染导致严重呼吸窘迫而被收入儿科重症监护病房。由于外周血涂片显示轻度血小板减少症，进行了 Sanger 基因测序，该检测确认了 WAS 的诊断。WAS 背景下可能存在先天性 CMV 感染的这种罕见组合，导致了初始诊断的误导。
