19例线粒体脑肌病的电子显微镜研究

TEM investigation on ultrastructural pathology of mitochondrial encephal myopathy

目的:探讨线粒体脑肌病的超微病理特点和发病机制。线粒体脑肌病MELAS(mitochondrial encephal myopathy with lactic acidosis and strokelike episodes)是一种以卒中样发作同时伴有血乳酸增高为主要临床表现的线粒体病,病因为遗传性基因缺陷所致。方法:对19例线粒体脑肌病患者肌肉活检标本的超微病理变化及核磁共振特点进行分析。结果:研究提示核磁共振检查MELAS病患者大脑颞、顶、枕皮层可见不按血管解剖学分布的梗死样病灶;电子显微镜检查见病变肌细胞内线粒体形态异常,出现矩阵样结晶包涵体结构。结论:MELAS的诊断需结合临床、病理、电镜、影像、血清学和基因检查,其中肌肉活检的电子显微镜检查可作为金标准。

In this paper, ultrastructural pathological change and MRI feature of muscle biopsy specimens of mitochondrial myopathy in 19 cases were analyzed. MRI examination indicated that there were infarct-like lesions in cerebral temporal, top and occipital cortex, the vascular distribution was not according to anatomy. Electron microscopy showed abnormal mitochondrial morphology changes in muscle cells and matrix like crystalline inclusions structure. MELAS diagnosis should be combined with clinic, pathology, electron microscopy, imaging, serology and genetic examination, of which the electron microscopic diagnosis of the muscle biopsy is the most important.