{"title":"NF2-Related Schwannomatosis Exhibiting the Complete Constellation of Multiple Inherited Schwannomas, Meningiomas, and Ependymomas (MISME Syndrome).","authors":"Bonifacio Pedregosa, Mark Ramos, Steven Villaraza","doi":"10.1159/000539899","DOIUrl":null,"url":null,"abstract":"<p><strong>Introduction: </strong>NF2-related schwannomatosis (NF2) is a rare inheritable autosomal dominant disorder characterized by multiple nervous system neoplasms.</p><p><strong>Case presentation: </strong>In this report, we present a rare case of NF2 exhibiting the complete constellation of multiple inherited schwannomas, meningiomas, and ependymomas (MISME syndrome).</p><p><strong>Conclusion: </strong>This is the first documented case of simultaneous occurrence of all three tumors in a single patient in the Philippines, adding to the sparse evidence of MISME syndrome in world literature.</p>","PeriodicalId":9639,"journal":{"name":"Case Reports in Neurology","volume":"16 1","pages":"221-225"},"PeriodicalIF":0.6000,"publicationDate":"2024-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11521411/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Case Reports in Neurology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1159/000539899","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/1/1 0:00:00","PubModel":"eCollection","JCR":"Q4","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
Introduction: NF2-related schwannomatosis (NF2) is a rare inheritable autosomal dominant disorder characterized by multiple nervous system neoplasms.
Case presentation: In this report, we present a rare case of NF2 exhibiting the complete constellation of multiple inherited schwannomas, meningiomas, and ependymomas (MISME syndrome).
Conclusion: This is the first documented case of simultaneous occurrence of all three tumors in a single patient in the Philippines, adding to the sparse evidence of MISME syndrome in world literature.
期刊介绍：
This new peer-reviewed online-only journal publishes original case reports covering the entire spectrum of neurology. Clinicians and researchers are given a tool to disseminate their personal experience to a wider public as well as to review interesting cases encountered by colleagues all over the world. To complement the contributions supplementary material is welcomed. The reports are searchable according to the key words supplied by the authors; it will thus be possible to search across the entire growing collection of case reports with universally used terms, further facilitating the retrieval of specific information. Following the open access principle, the entire contents can be retrieved at no charge, guaranteeing easy access to this valuable source of anecdotal information at all times.
京公网安备 11010802042870号
京ICP备2023020795号-1
分享
求助内容：
应助结果提醒方式：
扫码关注我们
