1例脂质沉积性肌病临床及病理分析

Clinical feature and pathological characteristic of lipid storage myopathy-with one case report

脂质沉积性肌病(LSM)是一种脂肪酸代谢障碍导致的肌病,1972年Engel首次报道,国内对该病的报道较少。LSM十分少见,与重症肌无力、进行性肌营养不良、多发性肌炎等鉴别困难,临床上误诊率非常高。作者就1例确诊LSM患者,详细阐明了该病临床及病理特点,以提高对该病的认识。

Lipid storage myopathy （LSM） is a type of myopathy induced by 1972 ,Engel firstly reported about this disease, however, it was rarely reported metabolic disturbance in our country. Since of fauy acid. In it is difficult to identify LSM from myasthenia gravis, progressive muscular dystrophy and multiple myositis, the clinical misdiagnosis rate of LSM is pretty high. In order to improve recognition of LSM, we discuss here about one patient with LSM with final diagnosis, to elucidate the clinical feature and pathological characteristic of LSM.