线粒体脑肌病伴高乳酸血症和卒中样发作综合征:1例报告及文献复习

Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episode(MELAS):one case report and literature review

目的:提高对线粒体脑肌病伴高乳酸血症和卒中样发作(mitochondrial encephalomyopathy with lactic acidosis and stroke-like episode,MELAS)综合征的临床认识水平。方法:报道1例MELAS综合征患者的诊疗经过,结合文献复习,重点讨论MELAS综合征的临床表现和诊疗思路。结果:1例MELAS综合征患者以卒中样发作为首发表现,继而出现癫痫样发作,脑脊液和血清相关抗体检测均为阴性。线粒体疾病基因检测结果提示为m.3243A>G。最终诊断为MELAS综合征。结论:MELAS综合征是线粒体脑肌病中最常见的一种类型,可以累及以脑和肌组织为主的全身多个系统,其临床表现多样,缺乏统一的诊断标准而易于漏诊和误诊,且缺乏有效的治疗方法,预后不良。因此,早期识别MELAS综合征尤为重要,以期做到早诊断和早治疗,改善患者预后。

Objective:To improve the understanding of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episode(MELAS)syndrome in clinical practice.Methods:The clinical diagnosis and treatment of one patient with MELAS syndrome were reported.The clinical manifestations,diagnosis and possible mechanism of MELAS syndrome were discussed based on literature review.Results:One patient with MELAS syndrome manifested first-onset stroke attack,and then appeared epileptic seizures.Suspicious antibodies in cerebrospinal fluid and serum were negative.The result of mitochondrial disease gene detection revealed m.3243A>G,and the final diagnosis was MELAS syndrome.Conclusion:MELAS syndrome is one of the most common type of mitochondrial myopathy,which can influence multiple systems,including brain and muscle tissues.The clinical manifestations of MELAS syndrome are various and lack of a unified diagnostic standard,so it is easy to escape diagnosis or be misdiagnosed,and the prognosis is poor.Therefore,it is very important to recognize MELAS syndrome early,in order to make the diagnosis as soon as possible and give appropriate treatment to improve the prognosis of patients.