线状体肌病的超微结构观察(附一例报告)

本文报告1例线状体肌病的临床表现,通过肌肉病理活检,组织化学和超微结构观察,并结合文献复习,探讨了线状体肌病的临床和病理特点。本例临床表现特点为：自婴幼儿期出现肌无力,病情进展非常缓慢,以近端肢体受累为主,血清酶学无明显变化,肌电图显示以近端肌源性损害为主,肌肉病理改变为肌组织纤维组织增生,部分肌纤维轻度萎缩,PTAH示肌纤维横切面蓝色小体,未见肌纤维坏死;超微结构观察可见肌纤维内有大量的线状体异常聚集,伴周围肌原纤维萎缩和断裂,空区还见大量的线粒体堆积,未见类晶体结构。上述病变肌细胞主要超微结构特征再次证实肌肉病理活检的电镜检查是诊断线状体肌病的重要手段。

Electron microscopic observation of nemaline myopathy (report of a case)

To investigate the clinical and pathological features of a case of nemaline myopathy. The clinical course was that the patient started to produce muscle weakness in childhood and disease progressed very slowly. Proximal limbs were mainly involved but changes of serum enzymology were not obvious and electromyographic findings indicated that proximal limbs had been harmed mainly. Microscopic changes of muscles indicate that there were proliferation of fibrous tissue in myofibers with a slight atrophy in parts. PTAH stain revealed "blue small body" in the crosssection of myofibers. Nescrosis of myofiber was not found. In thinsection there were a large number of nemaline rod containing myofibers in association, with myofibrillary atrophy, fragmentation and vacant section. There were a lot of mitochondrion in myofibers but the crystalline structure was not found. These main ultrastructural characteristics of the muscle biopsy gave a further evidence that electron microscopy plays an important role for diagnosis of the nemaline myopathy.