Diffuse cerebral microhemorrhages in Wiskott-Aldrich syndrome – A rare radiological manifestation of a rare immunodeficiency disorder

Kavan Ashesh Parikh
{"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-阿尔德里奇综合征的弥漫性脑微出血--一种罕见免疫缺陷疾病的罕见放射学表现
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。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 求助全文
来源期刊
自引率
0.00%
发文量
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信