线粒体肌病与线粒体脑肌病的酶组织化学和超微结构改变

Changes of enzyme histochemistry and ultrastructure in mitochondrial myopathy and encephalomyopathy

目的 探讨原发性线粒体肌病与脑肌病的病理特征及临床特点。方法 对 11例原发性线粒体肌病与脑肌病患者的临床表现、酶组织化学染色及超微结构进行分析。结果 11例MGT染色均发现有不整红边纤维 (RRF) ,其中单纯表现为肌无力的患者 7例 ,合并中枢神经系统受累者 4例 ,RRF出现比例为 6 .4%～ 10 .3%。电镜观察 11例 ,9例表现为线粒体数目增多 ,形态异常 ,嵴排列紊乱等 ,均可见线粒体内类结晶状包涵体。 2例线粒体改变只见数量增多 ,未见其他异常。结论 光镜下酶组化染色发现典型RRF ,对线粒体肌病与脑肌病的初步诊断有重要价值。电镜观察肌膜下线粒体异常增多且形态异常 ,特别是线粒体内类结晶状包涵体的出现 ,对本病的确诊有重要意义。

Objective To investigate the pathological features and clinical characteristics of primary mitochondrial myopathy and encephalomyopathy. Methods 11 cases of mitochondrial myopathy and encephalomyopathy were analyzed on clinical features, histochemical changes and ultrastructure observations of muscles. Results RRFs were found in all 11 cases by muscle staining of MGT under light microscope. 7 cases were only afflicated with muscle weakness, 4 cases also having impairment of central nervous system. The proportion of RRFs was 6.4% to 10.3%. We observed these cases under electronic microscope. In 9 cases,the ultrastructural alterations included subsarcolemmal accumulation of mitochondria,increases of the number,abnormal shape,disarrangement of cristae and paracrystaline inclusion bodies. In 2 cases the increase of mitochondrial number is only the alteration. Conclusions Typical RRF is valuable for diagnoses of mitochondrial myopathy and encephalomyopathy under light microscope. The accumulation of abnormal mitochondrials beneath sarcolemal,especially the paracrystaline inclusion bodies are significant in making a definite diagnosis of this disease under electronic microscope.