脂质沉积性肌病临床及病理特点

目的探讨脂质沉积性肌病（ＬＳＭ）的临床及病理特点。方法报告４例ＬＳＭ的临床特点，并对治疗前后的肌肉活检进行病理研究。结果４例患者均表现为进行性四肢无力，以近端肌为重，其中１例以活动后肌无力明显加重为主。血清肌酶谱增高或正常。肌电图以肌源性损害为主。肌肉病理检查（光、电镜下）示肌纤维中大量脂质颗粒沉积，Ⅰ型肌纤维受累重。经低长链脂肪酸饮食、激素，核黄素治疗，症状基本恢复，复查肌肉病理示肌纤维中脂质颗粒基本消失。结论ＬＳＭ是一种病因尚未完全阐明的疾病，临床以不能耐受运动和近端肌无力为主要表现，肌肉病理检查有助于确诊，ＬＳＭ是可以治疗的。

The clinical and pathological characterization of lipid storage myopathy

Objective To study the clinical and pathological features of lipid storage myopathy(LSM).Methods The clinical data of 4 cases were collected and mu scle biopsies were done before and after treatment. Light and electron microscopic studies were made.Results The clinical characters of the 4 patients were progressive guadrideplegia, the proximal weakness was greater than distal weakness. The muscle weakness was increased obviously after activity in one of them. The light and electron microscopic studies of muscle biopsy materials showed excessive amounts of fatty droplets in muscle fibers. Type I muscle fibers are more severely affected by the storage of the fat. The patients were recovered after treatment with steroid, riboflavin and special diets low in long chain fatty acid. The muscle was biopsied again and showed fatty droplets were disappeared in muscle fibers.Conclusion Fatigue and muscle weakness especially in proximal muscle were prominent symptoms in LSM. Muscle biopsy has a significant value for the definite diagnosis of this disease. LSM can be treated.