儿童线粒体脑肌病伴乳酸血症和卒中样发作三例临床分析  

Clinical analysis of three children patients with MELAS

作　　者：刘晓军[1] 张玉琴[2] 宋毅军[3] 

机构地区：[1]天津医科大学研究生院2013级,300070 [2]天津市儿童医院神经内科,300134 [3]天津医科大学总医院神经内科天津市神经病学研究所 天津市神经损伤变异与再生重点实验室,300052

出　　处：《中国现代神经疾病杂志》2016年第5期291-296,共6页Chinese Journal of Contemporary Neurology and Neurosurgery

基　　金：卫生计生委国家临床重点专科建设项目;天津市应用基础与前沿技术研究计划项目(项目编号:14JCZDJC35400);天津市应用基础与前沿技术研究计划项目(项目编号:14JCYBJC28300)~~

摘　　要：回顾分析3例线粒体脑肌病伴乳酸血症和卒中样发作（MELAS）患儿的临床表现、实验室和影像学特点、病理学和基因检测、诊断与治疗过程。3例患儿均以局灶性难治性癫发作为主要临床表现,同时伴脑卒中样发作、运动不耐受、身材矮小、发作性头痛和呕吐、认知功能障碍、视觉障碍、血清乳酸水平升高、代谢性酸中毒等;头部MRI显示病灶多位于颞顶枕叶;脑电图呈现背景慢波,双侧不对称、发作间期可见后头部样放电,其中2例外周血标本检测到线粒体DNA A3243G点突变,1例未检测到基因突变但肌肉组织活检符合线粒体肌病病理改变;均予托吡酯、左乙拉西坦、奥卡西平口服抗癫治疗,鸡尾酒疗法对症支持治疗;1例随访46个月,死于癫持续状态,1例随访40个月,脑卒中样发作2~3次/年,1例失访。提示应结合临床表现、实验室和影像学特点、病理学和基因检测早期和准确诊断MELAS综合征,以减少误诊和误治。This study aims to investigate the clinical manifestations, laboratory and imaging features, pathological and genetic testing, diagnosis and treatment in 3 children patients with mitochondrial encephalomyopathy with lactic acidosis and stroke- like episodes（MELAS）. Focal refractory epileptic seizures were the main clinical manifestations of 3 children, at the same time with stroke- like episodes,exercise intolerance, short stature, paroxysmal headache, vomiting, cognitive impairment, visual impairment,increased blood lactic acid（LA） level and metabolic acidosis. Head MRI showed the lesions were located in temporo- parieto- occipital lobes, and EEG showed slow- wave background, bilateral asymmetry and interictal epileptiform discharges of occiput. Mitochondrial DNA（mt DNA） A3243 G mutation was found in the peripheral blood samples of 2 cases. The mutation was not detected in the other case, however, themuscle biopsy revealed pathological changes of mitochondrial myopathy. All 3 cases were treated by antiepileptic drugs（AEDs） including topiramate, levetiracetam and oxcarbazepine, and cocktail therapy.One case died of status epilepticus（SE） after 46 months of follow-up, one case had stroke-like episodes for 2-3 times per year during the follow-up of 40 months, and one case was lost. The clinical manifestations,laboratory and imaging characteristics, pathological and genetic testing in children of MELAS have certain features, which will be helpful for early identification and definite diagnosis, and thus may reduce misdiagnosis and mistreatment.

关 键 词：MELAS综合征 儿童 

分 类 号：R746[医药卫生—神经病学与精神病学]