Recurrent infection triggered encephalopathy syndrome in a pediatric patient with RANBP2 mutation and severe acute respiratory syndrome coronavirus 2 infection.

IF 16.4 1区化学 Q1 CHEMISTRY, MULTIDISCIPLINARY

Accounts of Chemical Research Pub Date : 2023-11-19 eCollection Date: 2023-12-01 DOI:10.1002/ped4.12406

Jiaqi Li, Feng Huo, Shuo Wang, Yimu Fan, Jie Wu, Zhezhe Zhang, Shuangjun Liu, Quan Wang

{"title":"Recurrent infection triggered encephalopathy syndrome in a pediatric patient with RANBP2 mutation and severe acute respiratory syndrome coronavirus 2 infection.","authors":"Jiaqi Li, Feng Huo, Shuo Wang, Yimu Fan, Jie Wu, Zhezhe Zhang, Shuangjun Liu, Quan Wang","doi":"10.1002/ped4.12406","DOIUrl":null,"url":null,"abstract":"Introduction: Acute necrotizing encephalopathy (ANE), a fatal subtype of infection-triggered encephalopathy syndrome (ITES), can be triggered by many systemic infections. RANBP2 gene mutations were associated with recurrent ANE.Case presentation: Here we report a 1-year-old girl with recurrent ITES and RANBP2 mutation. She was diagnosed with influenza-associated encephalopathy and made a full recovery on the first episode. After severe acute respiratory syndrome coronavirus 2 infection, the patient presented with seizures and deteriorating mental status. Brain magnetic resonance imaging revealed necrotic lesions in bilateral thalami and pons. Methylprednisolone, immunoglobulin, and interleukin 6 inhibitors were administered. Her consciousness level was improved at discharge. Nineteen cases of 2019 coronavirus disease-related ANE have been reported, of which 22.2% of patients died and 61.1% had neurologic disabilities. RANBP2 gene mutation was found in five patients, two of whom developed recurrent ITES.Conclusion: Patients with RANBP2 mutations are at risk for recurrent ITES, may develop ANE, and have a poor prognosis after relapse.","PeriodicalId":1,"journal":{"name":"Accounts of Chemical Research","volume":null,"pages":null},"PeriodicalIF":16.4000,"publicationDate":"2023-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10693665/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Accounts of Chemical Research","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1002/ped4.12406","RegionNum":1,"RegionCategory":"化学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/12/1 0:00:00","PubModel":"eCollection","JCR":"Q1","JCRName":"CHEMISTRY, MULTIDISCIPLINARY","Score":null,"Total":0}

引用次数: 0

Abstract

Introduction: Acute necrotizing encephalopathy (ANE), a fatal subtype of infection-triggered encephalopathy syndrome (ITES), can be triggered by many systemic infections. RANBP2 gene mutations were associated with recurrent ANE.

Case presentation: Here we report a 1-year-old girl with recurrent ITES and RANBP2 mutation. She was diagnosed with influenza-associated encephalopathy and made a full recovery on the first episode. After severe acute respiratory syndrome coronavirus 2 infection, the patient presented with seizures and deteriorating mental status. Brain magnetic resonance imaging revealed necrotic lesions in bilateral thalami and pons. Methylprednisolone, immunoglobulin, and interleukin 6 inhibitors were administered. Her consciousness level was improved at discharge. Nineteen cases of 2019 coronavirus disease-related ANE have been reported, of which 22.2% of patients died and 61.1% had neurologic disabilities. RANBP2 gene mutation was found in five patients, two of whom developed recurrent ITES.

Conclusion: Patients with RANBP2 mutations are at risk for recurrent ITES, may develop ANE, and have a poor prognosis after relapse.

查看原文本刊更多论文

1例伴有RANBP2突变和严重急性呼吸综合征冠状病毒2感染的儿科患者反复感染引发脑病综合征

急性坏死性脑病(ANE)是感染引发脑病综合征(ITES)的一种致命亚型，可由许多全身性感染引发。RANBP2基因突变与复发性ANE相关。病例介绍:在这里我们报告一个1岁的女孩复发性ITES和RANBP2突变。她被诊断为流感相关脑病，并在首次发作时完全康复。患者感染严重急性呼吸综合征冠状病毒2型后出现癫痫发作，精神状态恶化。脑磁共振成像显示双侧丘脑和脑桥坏死病变。给予甲基强的松龙、免疫球蛋白和白细胞介素6抑制剂。出院时她的意识水平有所提高。报告了19例与2019冠状病毒病相关的ANE，其中22.2%的患者死亡，61.1%患有神经功能障碍。5例患者发现RANBP2基因突变，其中2例复发性ITES。结论:RANBP2突变患者有复发性ITES的风险，可能发展为ANE，复发后预后较差。

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

Accounts of Chemical Research 化学-化学综合

CiteScore

31.40

自引率

1.10%

发文量

312

审稿时长

2 months

期刊介绍： Accounts of Chemical Research presents short, concise and critical articles offering easy-to-read overviews of basic research and applications in all areas of chemistry and biochemistry. These short reviews focus on research from the author’s own laboratory and are designed to teach the reader about a research project. In addition, Accounts of Chemical Research publishes commentaries that give an informed opinion on a current research problem. Special Issues online are devoted to a single topic of unusual activity and significance. Accounts of Chemical Research replaces the traditional article abstract with an article "Conspectus." These entries synopsize the research affording the reader a closer look at the content and significance of an article. Through this provision of a more detailed description of the article contents, the Conspectus enhances the article's discoverability by search engines and the exposure for the research.