以癫痫首发的线粒体脑肌病伴高乳酸血症和卒中样发作(MELAS) 1例报道

Mitochondrial Encephalomyopathy with Hyperlactic Acid and Stroke-Like Attack (MELAS) as the First Episode of Epilepsy: A Case Report

摘要: 线粒体脑肌病伴高乳酸血症和卒中样发作(mitochondrial encephalomyopathy with lactic acidemia and stroke-like episodes, MELAS)是一种以脑和肌肉系统受累为突出特征的线粒体结构和功能异常导致的遗传性疾病。MELAS患者多表现为母系遗传，在任何年龄均可发病，其中发病高峰年龄在10~30岁。约80%的MELAS患者由线粒体DNA (mitochondrial DNA, mtDNA) 3243A>G突变引起，其次是mtDNA 13513G>A突变，其他mtDNA或核DNA (nucleus DNA, nDNA)突变所致相对少见。其临床表现复杂多样，发病年龄越早，临床症状越多，预后越差，因此加强对该疾病的认识，做到早诊断，早治疗意义重大。对于考虑MELAS的患者应详细询问病史、家族史，结合血浆乳酸值、影像学、肌电图、脑电图、肌肉活检提高对本病的诊断，最终通过基因检测确诊。

Abstract: Mitochondrial encephalomyopathy with hyperlactic acid and stroke-like episodes (MELAS) is a he-reditary disease caused by abnormal mitochondrial structure and function characterized by involvement of brain and muscle system. MELAS patients mostly show matrilineal inheritance, and they can get sick at any age, among which the peak age is 10~30 years old. About 80% of MELAS patients are caused by mitochondrial DNA (mtDNA) 3243A>G mutation, followed by mtDNA 13513G>A mutation, and other MTDNA or nuclear DNA (nDNA) mutations are relatively rare. Its clinical manifestations are complex and diverse. The earlier the onset age, the more clinical symptoms and the worse the prognosis. Therefore, it is of great significance to strengthen the understanding of the disease and make early diagnosis and treatment. For patients considering MELAS, medical history and family history should be asked in detail, and the diagnosis of this disease should be improved by combining plasma lactic acid value, imaging, electromyography, electroencephalogram and muscle biopsy, and the final diagnosis should be made by genetic testing.