FASTKD2突变的临床表型。

IF 0.5 Q3 Medicine
Ritesh Shah, Seema Balasubramaniam
{"title":"FASTKD2突变的临床表型。","authors":"Ritesh Shah,&nbsp;Seema Balasubramaniam","doi":"10.4103/jpn.JPN_199_20","DOIUrl":null,"url":null,"abstract":"<p><p>Mitochondrial disorders (MIDs) are frequently multisystemic in nature and cause significant morbidity and mortality. Accurate assessment of mitochondrial disease prevalence has been difficult in the past. Primary MIDs are due to mutations in mitochondrial DNA (mtDNA) or nuclear DNA (nDNA)-located genes. Here we report cases of two siblings who presented to the pediatric emergency department with status epilepticus. Initially, the elder sibling was treated for metabolic encephalopathy and viral encephalitis, during his admission to the hospital. On treatment with multiple antiepileptic drugs, the status epilepticus subsided. A provisional diagnosis of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes was made. Magnetic resonance imaging showed diffusion restriction in the left temporal lobe, insular cortex, and left lentiform nucleus, which completely resolved on follow-up after 1 month. His sudden demise in May 2019 due to status epilepticus, and a similar case presentation in his younger sibling, prompted us to do a genetic analysis test. The exome sequence revealed FASTKD2 mutation, a rare variant. This case report helps in increasing the awareness among the clinicians about the clinical presentation of FASTKD2 mutation case.</p>","PeriodicalId":46746,"journal":{"name":"Journal of Pediatric Neurosciences","volume":"16 4","pages":"319-322"},"PeriodicalIF":0.5000,"publicationDate":"2021-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9757524/pdf/","citationCount":"0","resultStr":"{\"title\":\"Clinical Phenotype of FASTKD2 Mutation.\",\"authors\":\"Ritesh Shah,&nbsp;Seema Balasubramaniam\",\"doi\":\"10.4103/jpn.JPN_199_20\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Mitochondrial disorders (MIDs) are frequently multisystemic in nature and cause significant morbidity and mortality. Accurate assessment of mitochondrial disease prevalence has been difficult in the past. Primary MIDs are due to mutations in mitochondrial DNA (mtDNA) or nuclear DNA (nDNA)-located genes. Here we report cases of two siblings who presented to the pediatric emergency department with status epilepticus. Initially, the elder sibling was treated for metabolic encephalopathy and viral encephalitis, during his admission to the hospital. On treatment with multiple antiepileptic drugs, the status epilepticus subsided. A provisional diagnosis of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes was made. Magnetic resonance imaging showed diffusion restriction in the left temporal lobe, insular cortex, and left lentiform nucleus, which completely resolved on follow-up after 1 month. His sudden demise in May 2019 due to status epilepticus, and a similar case presentation in his younger sibling, prompted us to do a genetic analysis test. The exome sequence revealed FASTKD2 mutation, a rare variant. This case report helps in increasing the awareness among the clinicians about the clinical presentation of FASTKD2 mutation case.</p>\",\"PeriodicalId\":46746,\"journal\":{\"name\":\"Journal of Pediatric Neurosciences\",\"volume\":\"16 4\",\"pages\":\"319-322\"},\"PeriodicalIF\":0.5000,\"publicationDate\":\"2021-10-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9757524/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Pediatric Neurosciences\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.4103/jpn.JPN_199_20\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Pediatric Neurosciences","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4103/jpn.JPN_199_20","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 0

摘要

线粒体疾病(MIDs)通常是多系统的,并导致显著的发病率和死亡率。准确评估线粒体疾病的流行在过去是困难的。原发性mid是由于线粒体DNA (mtDNA)或核DNA (nDNA)定位基因的突变引起的。在这里,我们报告的情况下,两个兄弟姐妹谁提出了儿科急诊科癫痫持续状态。最初,哥哥在入院期间接受了代谢性脑病和病毒性脑炎的治疗。经多种抗癫痫药物治疗后,癫痫持续状态有所缓解。初步诊断为线粒体脑肌病伴乳酸酸中毒和卒中样发作。磁共振成像显示左侧颞叶、岛叶皮质、左侧小晶状体核扩散受限,随访1个月后完全消退。他于2019年5月因癫痫持续状态突然死亡,他的弟弟妹妹也出现了类似的病例,这促使我们进行了基因分析测试。外显子组序列显示FASTKD2突变,一种罕见的变异。本病例报告有助于提高临床医生对FASTKD2突变病例临床表现的认识。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Clinical Phenotype of FASTKD2 Mutation.

Clinical Phenotype of FASTKD2 Mutation.

Clinical Phenotype of FASTKD2 Mutation.

Clinical Phenotype of FASTKD2 Mutation.

Mitochondrial disorders (MIDs) are frequently multisystemic in nature and cause significant morbidity and mortality. Accurate assessment of mitochondrial disease prevalence has been difficult in the past. Primary MIDs are due to mutations in mitochondrial DNA (mtDNA) or nuclear DNA (nDNA)-located genes. Here we report cases of two siblings who presented to the pediatric emergency department with status epilepticus. Initially, the elder sibling was treated for metabolic encephalopathy and viral encephalitis, during his admission to the hospital. On treatment with multiple antiepileptic drugs, the status epilepticus subsided. A provisional diagnosis of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes was made. Magnetic resonance imaging showed diffusion restriction in the left temporal lobe, insular cortex, and left lentiform nucleus, which completely resolved on follow-up after 1 month. His sudden demise in May 2019 due to status epilepticus, and a similar case presentation in his younger sibling, prompted us to do a genetic analysis test. The exome sequence revealed FASTKD2 mutation, a rare variant. This case report helps in increasing the awareness among the clinicians about the clinical presentation of FASTKD2 mutation case.

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
CiteScore
1.10
自引率
0.00%
发文量
49
期刊介绍: Journal of Pediatric Neurosciences-JPN (ISSN 1817-1745) is official publication of the Indian Society for Pediatric Neurosurgery. The journal is published semiannually. Bibliographic listings: The journal is indexed with Caspur, DOAJ, EBSCO Publishing’s Electronic Databases, Excerpta Medica / EMBASE, Expanded Academic ASAP, Genamics JournalSeek, Google Scholar, Health & Wellness Research Center, Health Reference Center Academic, Hinari, Index Copernicus, OpenJGate, Scimago Journal Ranking, SCOLOAR, SCOPUS, SIIC databases, Ulrich’s International Periodical Directory
×
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