PDF(Pubmed)
Abstract：
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) is caused by mutations in mitochondrial DNA and is one of the most common syndromes among the mitochondrial diseases. Clinical manifestations typically occur before the age of 40 years. The present study reports a case of MELAS with a mutation in the adenine to guanine conversion at mitochondrial genome 3243 in a 48-year-old woman who was suspected of suffering from recurrent strokes. Finally, the genomic analysis confirmed the diagnosis of MELAS. This case highlights the importance of considering MELAS as a potential cause of recurrent stroke-like events if imaging findings are atypical for cerebral infarction, even among middle-aged patients with vascular risk factors.
摘要：
线粒体脑肌病，乳酸性酸中毒和中风样发作（MELAS）是由线粒体DNA突变引起的，是线粒体疾病中最常见的综合征之一。临床表现通常发生在40岁之前。本研究报告了一例MELAS病例，该病例在线粒体基因组3243处腺嘌呤向鸟嘌呤转化的突变被怀疑患有复发性中风。最后,基因组分析证实了MELAS的诊断。该病例强调，如果影像学发现不典型的脑梗死，应将MELAS视为复发性卒中样事件的潜在原因。甚至在有血管危险因素的中年患者中。
