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首页> 外文期刊>The neurologist. >Late-onset Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes Presenting With Auditory Agnosia
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Late-onset Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes Presenting With Auditory Agnosia

机译：晚期发作线粒体脑病，乳酸酸中毒和脑卒中的脑卒中的脑卒中和脑卒中的发作

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Introduction: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is a multisystemic mitochondrial disorder that usually presents in childhood. Patients can have a wide array of neurological symptoms when presenting with stroke-like episodes, and imaging characteristics during the episodes can overlap with different neurological disorders. Case Report: A 61-year-old woman presented with communication difficulties consistent with auditory agnosia and was found to have bitemporal abnormalities on imaging that first raised the concern for herpes simplex virus encephalitis. Further work-up, in conjunction with the patient's past medical and family history, suggested a mitochondrial disorder. Mitochondrial full genome analysis revealed m.3243A>G variant in the MT-TL1 gene, with 6% heteroplasmy in blood leading to a diagnosis of MELAS. Conclusions: MELAS is a disorder with clinical variability. Neuro-imaging studies during stroke-like episodes in MELAS can provide significant clues to the underlying disorder. Although patients typically present in childhood, the first stroke-like episode can occur later in life in some patients, potentially related to a lower heteroplasmy level.
机译：介绍：线粒体脑病，乳酸酸中毒和卒中等情节（Melas）是一种通常在儿童时期呈现的多系统线粒体障碍。患者在呈现卒中相片时可以具有各种神经系统症状，并且在发作期间的成像特性可以与不同的神经疾病重叠。案例报告：一名61岁女性呈现出与听觉毒性的沟通困难，并被发现有足够的成像异常，首先提出了对单纯疱疹病毒性脑炎的关注。进一步处理，与患者过去的医疗和家族史一起建议进行线粒体障碍。线粒体全基因组分析显示MT-TL1基因中的M.3243A> G变体，血液中有6％的异质性，导致Melas的诊断。结论：Melas是一种临床变异性的疾病。 MELAS中卒中类似事件的神经成像研究可以为下面的疾病提供显着的线索。虽然患者通常存在于儿童时期，但是在一些患者的生命中似乎可以发生第一中风状发作，潜在的患者潜在的患者。

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