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目的探讨线粒体脑肌病伴高乳酸血症和卒中样发作(MELAS)的病因、临床表现、诊断及治疗方法。方法回顾性分析1例MELAS的发病及诊治过程并文献复习。结果患者有癫痫样发作的典型临床表现,发病时实验室检查结果、影像学特征结合基因检测支持MELAS诊断。行抗癫痫、改善脑循环、精氨酸、辅酶等治疗,患者癫痫样症状可暂时控制,但亦会复发。结论线粒体脑肌病见于线粒体的母系遗传,亲代携线粒体突变基因,子代异质性线粒体基因存在阈值效应,超过一定限度可导致疾病的发生。线粒体脑肌病常以卒中样发作为主要表现,不易在临床中发现,基因检测有助于确诊,目前尚无特殊治疗方法。
Objective To investigate the etiology, clinical manifestations, diagnosis and treatment of mitochondrial encephalomyopathy with hyperlactatemia and stroke-like episodes (MELAS). Methods Retrospective analysis of one case of MELAS pathogenesis and diagnosis and treatment process and literature review. Results The patient had typical clinical manifestations of epileptic seizures, laboratory findings at onset, and imaging features in combination with genetic testing supporting MELAS diagnosis. Line anti-epilepsy, improve cerebral circulation, arginine, coenzyme and other treatment, patients with epileptiform symptoms may be temporarily controlled, but also relapse. Conclusions Mitochondrial encephalomyopathy is found in the maternally inherited mitochondria. Mutations in the mitochondrial DNA of the parental generation and mitochondrial genes in the offspring present a threshold effect. Exceeding certain limits may lead to the occurrence of the disease. Mitochondrial encephalomyopathy often stroke-like as the main performance, not easy to find in the clinic, genetic testing contribute to the diagnosis, there is no special treatment.