目的 探讨脂质沉积性肌病(lipid storage myopathy,LSM)的临床特征、病理改变、代谢异常及治疗.方法 回顾性分析我院确诊的3例LSM患者的临床表现、肌肉病理所见及血、尿代谢检查结果,结合文献报道总结LSM的临床特点和发病机制,并对多发性肌炎的诊断标准进行讨论.结果 3例患者均有对称性肌无力和/或肌痛,肌酶谱增高,最初均诊断为多发性肌炎,经激素治疗可好转,但病情反复.肌肉病理显示肌纤维大小不等,大量肌纤维内可见类圆形空泡,油红O染色见肌纤维内大量红染的脂滴沉积.经调整饮食、口服维生素B2、左卡尼汀等药物治疗后,症状改善明显.结论 应用Bohan/Peter标准可能导致对多发性肌炎的过度诊断.对临床表现为肌无力、肌痛的患者,不要盲目应用激素治疗,应积极进行骨骼肌活检,明确诊断.%Objective To investigate the clinical manifestations, pathologic changes, biochemical profiles and treatment responses of the patients with lipid storage myopathy. Methods Clinical data including muscle biopsy findings, blood free fatty acid assay, acylcarnitine profiles and urinary organic acid were analyzed in three patients with lipid storage myopathy retrospectively. Relevant literatures on the clinical features and pathogenesis of lipid storage myopathy were reviewed. Results All three patients presented symmetrical muscle weakness and/or muscle pain with increase in muscle enzymes. They all were misdiagnosed as polymyositis and given corticosteroid treatment. Although those patients responded well to corticosteroid treatment initially, they had relapse courses. Muscle specimens showed that muscle fibers varied greatly in size and there was a large number of muscle fibers with round vacuoles. Oil Red 0 staining revealed marked accumulation of lipid drop lets in muscle fibers. After treatment with dietary , oral riboflavin and L-Carnitine, their conditions significantly improved. Conclusion The Bohan/Peter criteria cannot differentiate between lipid storage myopathy and polymyositis and thus may lead to a misdiagnosis of lipid storage myopathy as polymyositis. Patients with complaint of muscle weakness , myalgia and fatigue should receive a muscle biopsy for a correct diagnosis before corticosteroid treatment.
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