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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。
Objective To investigate the clinical and pathological features of lipid deposition myopathy (LSM). Methods The clinical features of 4 cases of LSM were reported, and the pathological study of muscle biopsy was performed before and after treatment. Results All the 4 patients showed progressive weakness in the limbs, with the proximal muscles as the most important. Among them, 1 patient mainly developed aggravate muscle weakness after the activity. Serum muscle enzymes increased or normal. EMG to myogenic damage-based. Muscle pathological examination (light, electron microscopy) showed a large number of lipid particles in muscle fiber deposition, type Ⅰ muscle fibers involved in weight. The low-fat diet, hormones, riboflavin treatment, the basic recovery of symptoms, check the muscle pathology showed that lipid particles in the muscle fibers disappeared. Conclusions LSM is a disease whose etiology has not been completely elucidated. The clinical manifestations include inability to exercise and proximal muscular weakness. Muscle pathology is helpful for diagnosis and LSM can be treated.