如果您有癫痫发作和严重的 MaNGIE，请考虑线粒体病

Medico e Bambino pagine elettroniche Pub Date : 2024-05-24 DOI:10.53126/mebxxviimg96

Maria Cristina Gauci, Alessandra Di Nora, Concetta Meli

{"title":"如果您有癫痫发作和严重的 MaNGIE，请考虑线粒体病","authors":"Maria Cristina Gauci, Alessandra Di Nora, Concetta Meli","doi":"10.53126/mebxxviimg96","DOIUrl":null,"url":null,"abstract":"The diagnosis of mitochondrial neurogastrointestinal encephalopathy (MNGIE) syndrome, using next-generation sequencing (NGS) panel for genes associated with encephalopathy, was finally made in a 4-year-old girl who presented with marked dystrophy (with diarrhoea, abdominal pain and dysphagia) and postural instability, along with subsequent epileptic seizures.","PeriodicalId":198715,"journal":{"name":"Medico e Bambino pagine elettroniche","volume":"3 9","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2024-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Se ha crisi e MaNGIE male pensa a mitocondiopatia\",\"authors\":\"Maria Cristina Gauci, Alessandra Di Nora, Concetta Meli\",\"doi\":\"10.53126/mebxxviimg96\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"The diagnosis of mitochondrial neurogastrointestinal encephalopathy (MNGIE) syndrome, using next-generation sequencing (NGS) panel for genes associated with encephalopathy, was finally made in a 4-year-old girl who presented with marked dystrophy (with diarrhoea, abdominal pain and dysphagia) and postural instability, along with subsequent epileptic seizures.\",\"PeriodicalId\":198715,\"journal\":{\"name\":\"Medico e Bambino pagine elettroniche\",\"volume\":\"3 9\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-05-24\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Medico e Bambino pagine elettroniche\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.53126/mebxxviimg96\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Medico e Bambino pagine elettroniche","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.53126/mebxxviimg96","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}

引用次数: 0

摘要

一名 4 岁的女孩出现了明显的营养不良（伴有腹泻、腹痛和吞咽困难）和体位不稳，并随后出现癫痫发作，通过使用下一代测序（NGS）小组检测与脑病相关的基因，最终确诊为线粒体神经胃肠道脑病（MNGIE）综合征。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

Se ha crisi e MaNGIE male pensa a mitocondiopatia

The diagnosis of mitochondrial neurogastrointestinal encephalopathy (MNGIE) syndrome, using next-generation sequencing (NGS) panel for genes associated with encephalopathy, was finally made in a 4-year-old girl who presented with marked dystrophy (with diarrhoea, abdominal pain and dysphagia) and postural instability, along with subsequent epileptic seizures.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊

Medico e Bambino pagine elettroniche

自引率

0.00%

发文量