15例MELAS综合征的临床、肌肉病理及基因分析  

Clinical manifestation, muscle pathology and gene analyses of 15 patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke like episode

作　　者：王娟[1] 喻绪恩[2] 吴君仓[1] 程楠[2] 王训[2] 胡纪源[2] 韩咏竹[2] 杨任民[2] 

机构地区：[1]合肥市第二人民医院神经内科,230011 [2]安徽中医药大学神经病学研究所附属医院神经内科,合肥230061

出　　处：《中华神经医学杂志》2015年第11期1138-1143,共6页Chinese Journal of Neuromedicine

基　　金：国家临床重点专科建设开放基金（20141ckf02005）;安徽省合肥市第二人民医院院内基金（2014-001）

摘　　要：目的归纳总结线粒体脑肌病伴乳酸中毒和卒中样发作（MELAS）综合征的临床表现、肌肉病理特点及基因突变热点。方法回顾性分析安徽中医药大学神经病学研究所附属医院神经内科自2008年12月至2015年3月收治的经肌肉病理检查和基因检测确诊的15例MELAS综合征患者的临床表现、肌肉病理特点和基因检测情况。结果15例患者中男6例，女9tN；发病年龄3～38岁，平均（15．0±9．1）岁；以癫痫为首发症状6例，其次头痛4例及视力下降2例等；病程中癫痫最多见（14例次），其次为头痛（13例次）及卒中发作（7例次）等；颅脑MRI示13例异常，以枕叶受损最多见（10例次），其次为颞叶（7例次）及顶nt（5例次）等。肌肉病理示15例均发现强反应性血管（SSV）现象且SSV现象在细胞色素C氧化酶（COO）染色中呈活性增强表现，其次为破碎红纤维（RRF）11例次等。基因检测显示13例存在A3243G点突变，2例未发现。结论MELAS综合征以癫痫、头痛及卒中发作为主要临床症状，颅脑MRI示以不对称性枕颞顶叶受损为主，肌肉病理以SSV现象最多见，基因突变热点是A3243G点突变。Objective To conclude the clinical features, pathologic changes and gene mutations of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode （MELAS）. Methods A restrospective analysis was carried out on the clinical manifeststions, muscle pathologies changes and gene results of 15 patients with MELAS, admitted to our hospital from December 2008 and March 2015. Results In 15 MELAS patients, 6 were male and 9 were female. The onset age ranged from 3 to 38 years, with average age of 15.0±9.1 years. Epilepsy as first symptom appeared in 6 patients, headache as first symptom in 4 and vision loss as first symptom in 2. The epilepsy in the course was noted in 14 patients, headache symptoms in 13 and stroke-like onset in 7. Brain MR imaging showed significant abnormality in 13 patients, mainly presented as occipital lobe in 10 patients, temporal lobe in 7 and parietal lobe in 5. The 15 patients were found strongly SDH-reactive blood vessels （SSV） in muscle tissue pathological staining and the SSV of CCO（＋）, and ragged-red fober in 11 patients. Genetic test indicated mtDNA A3243G mutation in 13 patients. Conclusion The clinical manifestations of MELAS mainly include epilepsy, headache and stroke-like onset; the asymmetry occipital, temporal and parietal lobe damage are showed in the brain MRI; SSV in muscle pathological changes is most common in MELAS; the A3243G mutation in the mitochondrial DNA is the hotspot regin of MELAS.

关 键 词：MELAS综合征 临床表现 肌肉病理 基因分析 

分 类 号：R746[医药卫生—神经病学与精神病学]