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目的总结脂质沉积性肌病(lipid storage myopathy,LSM)的临床和病理特点,为早期诊断和治疗提供参考。方法对5例脂质沉积性肌病患者的临床资料进行回顾性分析。结果 5例脂质沉积性肌病患者均为慢性或亚急性起病,主要表现为不同程度的肌无力和对运动不耐受、血清肌酶均升高、神经电生理检查显示肌源性损害,病理检查发现肌纤维内空泡样变,脂滴明显增多,脂滴空泡呈“串珠”样排列。给予能量支持、低脂饮食、糖皮质激素等治疗后患者的临床症状好转。结论脂质沉积性肌病的确诊依靠肌肉活检,该病预后良好,及时的诊断和综合治疗可明显改善患者的生活质量。
Objective To summarize the clinical and pathological features of lipid storage myopathy (LSM) and provide reference for early diagnosis and treatment. Methods The clinical data of 5 patients with lipid deposition myopathy were retrospectively analyzed. Results All 5 patients with lipid deposition myopathy were chronic or subacute onset, mainly manifested as varying degrees of muscle weakness and intolerance to exercise, serum creatinine were elevated, neuromuscular examination revealed myogenic damage, Pathological examination found that the vacuoles in the muscle-like fibers, lipid droplets increased significantly, lipid droplets were “beaded ” -like arrangement. Given the energy support, low-fat diet, glucocorticoid and other treatment of patients with clinical symptoms improved. Conclusion The diagnosis of lipid deposition myopathy depends on muscle biopsy, the prognosis of the disease is good, timely diagnosis and comprehensive treatment can significantly improve the quality of life of patients.