陈琳 郭重 郭玉璞 刘兴洲 任海涛 高淑芳 100730 北京，中国医学科学院中国协和医科大学北京协和医院神经内科 中华神经科杂志 1998 0 31 3


    关键词：肌病；线体粒；肉碱 期刊 zhsjkzz 0 *论著* fur -->


    

【摘要】 目的 从临床和肌肉病理的角度分析脂质沉积性肌病(LSM)的特点。方法 收集20例LSM病人的临床资料，并做肌肉活检，采用常规组织学方法和组织化学方法染色，并在电镜下观察。结果 结合临床和病理特点可将病例分为两组，第一组为急性或亚急性起病，四肢近端肌无力，肌酶谱明显升高，对激素治疗敏感；第二组呈慢性迁延性病程，表现肌无力和对运动不耐受，对激素治疗不敏感，肌纤维内线粒体异常比较明显。对20例病人的肌肉活检发现I型肌纤维为主的肌纤维空泡样变，油红“O”染色示脂滴明显增多，电镜也证实肌纤维内脂滴堆积，部分病例伴有异常线粒体增多。结论 脂质沉积性肌病是一组生化方面十分复杂的疾病，属于线粒体肌病的一个类型，临床上以不能耐受运动和近端肌无力为主，病程呈波动性，部分可有自发缓解，肌肉病理检查有助于确诊。两组的临床病理差异可能提示脂肪代谢障碍的不同环节或不同酶的缺陷。

    Clinical and pathological features of lipid storage myopathy Chen Lin, Guo Zhong， Guo Yupu, et al. Department of Neurology, Peking Union Medical College Hospital, Beijing100730

    【Abstract】 Objective To study 20 casesof lipid storage myopathy (LSM) and to analyze them in clinical and pathological fields.Methods The clinical data of the 20 cases werecollected and muscle biopsies were done with routine and histochemical staining. Light andelectron microscopic studies were made.Results Combiningclinical characters with pathologic changes, we divided these cases into two groups. Thefirst group were acute or subacute onset. Muscle weakness occurred with increased muscleenzymes in the plasma. This group had dramatic responses to corticosteroid therapy. Thesecond group were of chronic courses marked fatigue and muscle weakness. They were notsensitive to corticosteroid therapy. Mitochondrial abnormalities were obvious in thisgroup. Muscle biopsies showed many vacuoles in the muscle fibers, especially in the type Ifibers, with ORO staining positive. Electron microscopic observation demonstratedexcessive accumulation of lipid droplets and with abnormal mitochondria in some cases.Conclusions LSM was a complex disease. It wasconsidered to be a subgroup of mitochondrial myopathies. Fatigue and muscle weakness werethe prominent symptoms with recurring courses in most cases. Muscle biopsy were of use tomake the definite diagnosis of this disease.

     ......