线粒体脑肌病伴乳酸血症和卒中样发作（MELAS）中的罕见突变。
Uncommon mutation in mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS).
作者信息
David Jasna, Okiro Julie Omolola, Murphy Kevin, Elamin Marwa
机构信息
Department of Neurology, Sligo University Hospital, Sligo, Ireland.
Department of Medicine, Sligo University Hospital, Sligo, Ireland.
出版信息
BMJ Case Rep. 2017 Feb 27;2017:bcr2016218133. doi: 10.1136/bcr-2016-218133.
Abstract
A 26-year-old man presented to the emergency department with new-onset generalised tonic-clonic seizures. His clinical picture suggested either autoimmune or infectious encephalitis while his brain imaging raised the possibility of a stroke. A detailed developmental and childhood medical history added suspicion of a mitochondrial defect to the differential. After several molecular genetic analyses, an uncommon mitochondrial mutation was confirmed, unequivocally consistent with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome.
摘要
一名26岁男性因新发全身性强直阵挛性癫痫发作被送往急诊科。他的临床表现提示自身免疫性或感染性脑炎，而脑部影像学检查则提示有中风的可能。详细的发育史和儿童期病史增加了鉴别诊断中线粒体缺陷的怀疑。经过多项分子遗传学分析，证实了一种罕见的线粒体突变，明确符合线粒体脑肌病、乳酸酸中毒和卒中样发作（MELAS）综合征。
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本文引用的文献
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Mitochondrial Encephalomyopathy With Lactic Acidosis and Strokelike Episodes Presenting Before 50 Years of Age: When a Stroke Is Not Just a Stroke.50岁前出现的伴有乳酸性酸中毒和类卒中发作的线粒体脑肌病：当卒中并非仅仅是卒中时
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When should MELAS (Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes) be the diagnosis?何时应诊断为线粒体肌病、脑病、乳酸酸中毒和卒中样发作（MELAS）？
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