单纯型线粒体肌病的临床和病理特点  

Clinical and pathological characteristics of pure type mitochondrial myopathy

作　　者：高素琴[1] 焉传祝[1] 刘淑萍[1] 吴金玲[1] 李大年[1] 

机构地区：[1]山东大学齐鲁医院神经内科,济南250012

出　　处：《临床神经病学杂志》2005年第1期7-9,共3页Journal of Clinical Neurology

基　　金：山东省自然科学基金资助课题(NO:Y2002C34)

摘　　要：目的　探讨单纯型线粒体肌病的临床和病理特点。方法　对9例单纯型线粒体肌病患者的临 床和病理资料进行回顾性分析,并对其中6例进行随访研究。结果　9例单纯型线粒体肌病为选择性骨骼肌 受累,主要表现为波动性肌肉无力,以四肢近端为主,不累及眼外肌。大多患者肌酸磷酸激酶轻～中度增高 (539～2913U/L)。肌电图检查6例为肌源性损害,3例为神经源性损害。肌活检发现8例有典型的不整红 边纤维(RRF),其百分比为5%～60%;另1例有非典型RRF,但电镜观察发现线粒体形态异常和嵴内包涵 体。细胞色素C氧化酶(COX)染色4例酶活性部分缺失,2例完全缺失。病理观察发现RRF的比例与临床 肌无力程度呈一定的平行关系,RRF比例越高、临床肌无力越重。6例随访结果显示,经维生素B族、维生素 E、辅酶Q10、肌苷等药物治疗后,5例症状改善,1例死亡,死因不明。结论　单纯型线粒体肌病为选择性累及 躯干和四肢近端肌群的一个亚型,病理特点为典型的RRF和COX缺失,RRF与病情相关;其病程发展相对缓 慢,预后相对良好。Objective To investigate the clinical and pathological features of pure type mitochondrial myopathy.Methods Clinical manifestations and pathological features of biopsied muscle specimens were summarized retrospectively in 9 cases of pure mitochondrial myopathy. 6 of them were followed up on the purpose of prognostic analysis.Results 9 cases of pure mitochondrial myopathy were clinical characterized by exclusive skeletal muscle involvement and fluctuating proximal muscle weakness. Extraocular muscles were spare. Most patients had moderately increased creatine phosphokinase level (539～2 913U/L). Electromyography examination showed myogenic changes in 6 cases and neurogenic in 3 cases. Pathologically, 8 cases had typical ragged red fibers (RRF) accounting for 5% to 60%. Mitochondrial intracristal inclusion bodies were observed by electron microscope in the patient with atypical RRF. Focal cytochrome C oxidase (COX) deficiency was seen in 4 cases and total deficiency in 2 cases. To a certain degree, the percentage of RRF was parallel to muscle weakness. Following-up data from 6 patients showed that symptoms had improved in 5 patients after treatment with vitamin B, vitamin E, CoQ 10 and inosine. One had a sudden death with unknown reason.Conclusion Pure mitochondrial myopathy may be a distinct subset of mitochondrial diseases that preferentially affects trunk and proximal muscles,Pathological charactoristic had typical RRF and COX deficiency,and RRF is related to patient's condition.It has relative chronic process and benign prognosis.

关 键 词：单纯型线粒体肌病 不整红边纤维 细胞色素C氧化酶 

分 类 号：R746[医药卫生—神经病学与精神病学]