{"title":"Diffuse cerebral microhemorrhages in Wiskott-Aldrich syndrome – A rare radiological manifestation of a rare immunodeficiency disorder","authors":"Kavan Ashesh Parikh","doi":"10.25259/crcr_11_2024","DOIUrl":null,"url":null,"abstract":"Wiskott-Aldrich syndrome (WAS) is a rare X-linked primary immunodeficiency disorder with the characteristic triad of immunodeficiency, thrombocytopenia, and eczema. It results from a genetic mutation in the gene encoding WAS protein. We present a case of a 4-year-old male child who presented with two episodes of generalised tonic clonic seizures (GTCS) type convulsions. Magnetic resonance imaging (MRI) brain with contrast revealed diffuse cerebral microhemorrhages in supratentorial and infratentorial brain parenchyma which is a rare manifestation and not adequately documented in literature to the best of our knowledge.","PeriodicalId":419021,"journal":{"name":"Case Reports in Clinical Radiology","volume":"94 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2024-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Case Reports in Clinical Radiology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.25259/crcr_11_2024","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
Wiskott-Aldrich syndrome (WAS) is a rare X-linked primary immunodeficiency disorder with the characteristic triad of immunodeficiency, thrombocytopenia, and eczema. It results from a genetic mutation in the gene encoding WAS protein. We present a case of a 4-year-old male child who presented with two episodes of generalised tonic clonic seizures (GTCS) type convulsions. Magnetic resonance imaging (MRI) brain with contrast revealed diffuse cerebral microhemorrhages in supratentorial and infratentorial brain parenchyma which is a rare manifestation and not adequately documented in literature to the best of our knowledge.
威斯科特-阿尔德里奇综合征(WAS)是一种罕见的X连锁原发性免疫缺陷病,具有免疫缺陷、血小板减少和湿疹三重特征。它是由编码 WAS 蛋白的基因突变引起的。我们报告了一例 4 岁男童的病例,他曾两次出现全身强直阵挛发作(GTCS)型惊厥。脑部核磁共振成像(MRI)造影剂显示,上半部和下半部脑实质弥漫性脑微小出血,这是一种罕见的表现,据我们所知,文献中没有充分的记录。