【摘要】 目的探讨线粒体脑肌病(ME)的临床、病理及影像学特点。方法回顾性分析20例ME患者的临床资料。结果本组中,慢性进行性眼外肌麻痹(CPEO)7例;肌阵挛性癫痫伴破碎红纤维(MERRF)6例;线粒体脑肌病伴乳酸中毒以及卒中样发作(MELAS)5例;Leigh综合征(LS)2例。临床表现为眼睑下垂7例(35%),肢体无力12例(60%),癫痫10例(50%),卒中样发作5例(25%)和精神智能障碍9例(45%)。8例患者血肌酸激酶升高;7例患者行血乳酸水平检查,均不同程度增高。EMG显示肌源性损害8例,神经源性损害4例,周围神经损害2例,正常6例。头颅MRI表现为脑萎缩、脑白质变性和不符合血管分布的卒中样改变。骨骼肌病理可见破碎红纤维(RRF)和SDH染色肌间小血管强染(SSV);细胞色素C氧化酶(COX)酶活性减低或缺失。电镜下线粒体结构和/或数量异常。结论 ME临床表现复杂多样,多有骨骼肌和脑受累。RRF和SSV是ME主要病理表现。更多还原

【Abstract】 Objective To investigated the clinical, pathological and imaging features of mitochondrial encephalomyopathies( ME). Methods The clinical data of 20 patients with ME were analyzed retrospectively.Results In this group,chronic progressive external ophthalmoplegia( CPEO) was in 7 cases,myoclonic epilepsy associated with ragged red fibers( MERRF) was in 6 cases,mitochondrialencephalomyopathy,lactic acidosis and stroke-like events( MELAS) was in 5 cases,and Leigh syndrome( LS) was in 2 cases. Clinical manifestations were external ophthalmoplegia( 7 cases,35%),limb amyosthenia( 12 cases,60%),epilepsy( 10 cases,50%),stroke-like episodes( 5 cases,25%),disturbance of intelligence and psychonosema( 9 cases,45%). The level of lactic acid increased was in 8 cases. The level of creatine kinase was detected in 7 cases,and all of them were increased in different degree. EMG examinations showed myogenic was in 8 cases,neurogenic was in 4 cases,neripheral nerve was in 2 cases,and 6 cases were normal. The brain MRI showed that encephalatrophy,myelinopathy and multifocal lesions not conforming to the distribution of major arteries were existent. Skeletal muscle biopsy showed there was plenty of ragged red fibers( RRF) and strongly SDH-reactive vessel( SSV). The activity of cytochrome c oxidase( COX) was decreased or absent in some fibers. Transmission electromicroscope showed that mitochondria with abnormal appearance and unusual number. Conclusions Main clinical symptoms of ME are complex and varied,and they are involve skeletal muscle and brain. RRF and SSV are the main pathological features.更多还原