线粒体脑肌病的临床与病理

The analysis on clinical and pathological features of mitochondrial encephalomyopathy

目的探讨线粒体脑肌病的临床与肌肉病理特点。方法对１６例肌活检证实的线粒体脑肌病病例的临床表现、肌肉组织化学及超微结构进行分析。结果１６例患者破碎红纤维（ＲＢＦ）的平均比例为５．９％，１１例有中央核增多，１３例的ＳＤＨ／ＣＣＯ双染示１２例有蓝纤维，且与ＲＲＦ的分布一致。超微结构观察有４例找到典型晶格状包涵体。结论ＳＤＨ／ＣＣＯ双染有蓝纤维为线粒体肌病的诊断提供了依据，借此可与其他肌病鉴别。

Objective To investigate the features of clinical symptoms and pathological changes of mitochondrial en- cephalomyopathy. Methods 16 cases of mitochondrial encephalomyopathies were analyzed on clinical features, histochemical changes and ultrastructure oborvations of muscles.Results The average proportion of RRFs was 5.9% in 16 cases and cental nuclears were present in 11 cases. There were blue fibers on SDH/CCO double stain aections in 12 out of 13 cases. The distribu- tion of blue fibers was concordent with that of RRFs. There were crystal include body in mitochondria of 4 cases. Conclusions The diagnosis of mitochondrial encephalomyopathy could be made accoding to the presence of blue fibers s on SDH/CCO double stain sections and the mitochondria encephalomyopathy could be dishngUished from other myopathies.