脂质沉积性肌病的临床和病理特点

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

Objective To study 20 cases of lipid storage myopathy (LSM) and to analyze them in clinical and pathological fields. Methods The clinical data of the 20 cases were collected and muscle biopsies were done with routine and histochemical staining. Light and electron microscopic studies were made.Results Combining clinical characters with pathologic changes, we divided these cases into two groups. The first group were acute or subacute onset. Muscle weakness occurred with increased muscle enzymes in the plasma. This group had dramatic responses to corticosteroid therapy. The second group were of chronic courses marked fatigue and muscle weakness. They were not sensitive to corticosteroid therapy. Mitochondrial abnormalities were obvious in this group. Muscle biopsies showed many vacuoles in the muscle fibers, especially in the type I fibers, with ORO staining positive. Electron microscopic observation demonstrated excessive accumulation of lipid droplets and with abnormal mitochondria in some cases. Conclusions LSM was a complex disease. It was considered to be a subgroup of mitochondrial myopathies. Fatigue and muscle weakness were the prominent symptoms with recurring courses in most cases. Muscle biopsy were of use to make the definite diagnosis of this disease.