成人型杆状体肌病二例临床病理和超微结构研究

Adult form nemaline myopathy:two cases report with clinicopathological and ultrastructural study

目的 探讨成人型杆状体肌病的临床病理和超微结构特点。方法 对 2例成人型杆状体肌病患者的肌肉组织病理和超微结构进行观察。结果 2例患者均以颈肌无力起病 ,以后四肢和躯干肌不同程度受累 ,无骨骼发育畸形。肌肉组织病理改变的特点为选择性Ⅰ型纤维萎缩 ,改良Gomori三色法染色可见萎缩纤维内含大量深紫色颗粒状物。例 1发现大量中央核纤维。电镜观察可见肌原纤维排列紊乱 ,大量杆状体形成。在例 1的肌核内发现核内包涵体 ,结构特点与胞质内的杆状体相似。结论 成人型杆状体肌病临床缺乏特征性。肌肉病理中央核可与杆状体同时出现 ,与婴儿型和儿童型杆状体肌病相比 ,成人型患者肌纤维萎缩明显。肌核内可出现包涵体 ,其结构与胞质内杆状体一致。

Objective To investigate the clinical and pathological features of adult form nemaline myopathy. Methods Biopsied muscle specimens from two patients were observed using enzymatic histochemical method and electron microscope. Results These two patients were found with an initial onset from neck muscle weakness at the age of 52 and 36 years respectively, followed by trunk and limb muscle involvement to a variant degree. Type Ⅰ fiber atrophy and numerous granules (rod) were found in both patients in light microscopy. In case 1, the centralized nuclei were seen almost in all normal sized muscle fibers. Electron microscopic observation showed marked myofibril disorganization and numerous rod-like formations. Two inclusion-carrying nuclei were detected in case 1. The intranuclear inclusion showed a lattice pattern of Z-disc line or sarcoplasmic rod. Conclusions Adult form nemaline myopathy is clinically nonspecific. Rod-like structures might be found either in sarcoplasma or in nucleus. Centralized nuclei might coexist with rods in adult form nemaline myopathy. As compared to the child form, the adult one might often show a marked muscle fiber atrophy.