线粒体脑肌病伴高乳酸血症和脑卒中样发作综合征临床特点分析(附18例报告及文献复习)  

Case Summary and Clinical Characteristics Analysis of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes Syndrome

作　　者：王礼玲 高阳[1] 许谦 WANG Li-ling;GAO Yang;XU Qian(Department of Neurology,the Fourth Affiliated Hospital of Nantong University,Yancheng,224000,China)

机构地区：[1]南通大学第四附属医院神经内科,盐城224000

出　　处：《中国临床神经科学》2020年第5期538-544,共7页Chinese Journal of Clinical Neurosciences

摘　　要：目的探讨线粒体脑肌病伴高乳酸血症和脑卒中样发作(MELAS)综合征的临床特征。方法回顾性分析收治并确诊的18例MELAS综合征患者的临床表现、实验室指标、影像学表现、肌肉病理、基因测序结果、治疗和预后。结果 18例MELAS综合征患者平均年龄40岁。首发症状为癫7例,精神行为异常5例,偏侧肢体无力等脑卒中3例,视力、听力下降2例,智力减退1例。头颅MRI表现以多个脑叶受累,以颞、顶、枕叶受累为主;18例均有不同程度静止性乳酸水平升高;肌肉活检2例可见典型破碎红纤维;18例均接受基因检测,其中mtDNA A3243G位点突变14例(78%),mtDNA T3271C位点突变2例(11%),mtDNA A3252G位点突变2例(11%)。结论 MELAS综合征仅从临床症状较难诊断,易漏诊误诊,需要与脑梗死、病毒性脑炎等其他疾病相鉴别;影像学检查、血乳酸测定和肌肉活检结合基因检测有利于MELAS综合征的确诊。Aim To explore the clinical feature of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome(MELAS). Methods The clinical manifestations, laboratory examination data, imaging expression, muscular pathology, and gene sequencing results, treatment options and prognosis of 18 cases of MELAS were analyzed retrospectively. Results The average age of the 18 patients was 40 years old. The first symptom was epilepsy(7 cases), psychomotor abnormalities(5 cases), cerebral apoplexy such as lateral limb weakness(3 cases), visual and hearing impairment(2 cases), and mental retardation(1 case). Cranial MRI mostly showed multiple brain lobe involvement, mainly involving the temporal, parietal, and occipital lobe. Eighteen cases had different degrees of static lactic acid level. Muscle biopsy showed typical broken red fibers in 2 cases. Eighteen patients were genetically tested, of which 14(78%) had mtDNA A3243 G site mutation, 2(11%) patients had mtDNA T3271 C site mutation, and 2(11%) patients had mtDNA A3252 G mutation. Conclusion MELAS syndrome is difficult to be diagnosed only from clinical symptoms, which needs to be differentiated from cerebral infarction, viral encephalitis and other diseases, and is easy to miss diagnosis and misdiagnosis. Imaging, blood lactic acid test and muscle biopsy combined with gene test are beneficial to the diagnosis of MELAS syndrome.

关 键 词：线粒体脑肌病伴高乳酸血症和脑卒中样发作综合征 临床表现 线粒体功能 基因治疗 

分 类 号：R742[医药卫生—神经病学与精神病学] R743[医药卫生—临床医学]