A3243G突变导致的MELAS病例报道1例  

A case report of MELAS caused by A3243G mutation

作　　者：李文静 李其昌 郭瑞友[1] LI Wenjing;LI Qichang;GUO Ruiyou(Department of Neurology,Qingdao Hospital of Traditional Chinese Medicine,Qingdao Haici Hospital,Qingdao,Shandong 266000,China;Outpatient Department of the Third Retired Cadre Rest Center of Qingdao City,Shandong Military Region,Qingdao,Shandong 266000,China)

机构地区：[1]青岛市中医医院(青岛市海慈医院)神经内科,山东青岛266000 [2]山东省军区青岛市第三离职干部休养所门诊部,山东青岛266000

出　　处：《中国优生与遗传杂志》2022年第7期1237-1239,共3页Chinese Journal of Birth Health & Heredity

摘　　要：线粒体脑肌病伴乳酸中毒和卒中样发作(MELAS)综合征是一种罕见的临床代谢性疾病,线粒体A3243G突变是MELAS发生的主要原因。该综合征临床可表现为卒中样发作,癫痫发作,扩张型或肥厚型心肌病和糖尿病等。本文报道一例A3243G突变导致的MELAS病例,同时发现患者母亲存在同一突变,因二者突变率不同,临床症状也有不同。本文结合病例特点进行了相关文献复习,对该疾病的诊疗提供帮助。Mitochondrial encephalomyopathy with lactic acidosis and stroke like seizures(MELAS) syndrome is a rare clinical metabolic disease. Mitochondrial A3243G mutation is the main cause of MELAS. The syndrome can be characterized by stroke like seizures, seizures, dilated or hypertrophic cardiomyopathy and diabetes. This paper reports a case of MELAS caused by A3243G mutation. At the same time, it is found that the same mutation exists in the patient’s mother. Due to their different mutation rates, their clinical symptoms are also different. This paper reviews the relevant literature combined with the characteristics of the case, so as to provide help for the diagnosis and treatment of the disease.

关 键 词：MELAS综合征 线粒体脑肌病 A3243突变 

分 类 号：R741[医药卫生—神经病学与精神病学]