| 摘要: |
| 线粒体脑肌病伴乳酸中毒和卒中样发作（Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes ，MELAS）综合征于1984年首次报道，是由线粒体DNA（mtDNA）突变引起最常见的线粒体脑肌病的一种临床分型，为母系遗传，可表现为反复发作的头痛、卒中样发作、多种类型的癫痫发作和发育异常、听力下降等［1］。本文回顾性分析1例MELAS 综合征并癫痫发作，结合文献复习进一步探讨该病的发病机制，MELAS早期诊断和治疗提供理论指导。 |
| 关键词: 线粒体脑肌病伴乳酸中毒和卒中样发作综合征，临床表现，基因检测 |
| DOI： |
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| Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes : a case report and literature review. |
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Affiliated Hospital of Yanbian University
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| Abstract: |
| MELAS syndrome was first reported in 1984. It is a clinical typing of the most common mitochondrial encephalomyopathy caused by mtDNA mutation. It is maternal inheritance. It can be manifested as recurrent headache, stroke-like seizures, multiple types of epileptic seizures and developmental abnormalities, hearing loss, etc [1]. A case of MELAS syndrome with epileptic seizures was retrospectively analyzed. The pathogenesis of MELAS was further discussed with literature review. The early diagnosis and treatment of MELAS provided theoretical guidance. |
| Key words: Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes ,Clinical manifestation,Gene detection |
