以反复跌倒发作为表现的脂质沉积性肌病临床及病理特征分析

Clinical and pathological characteristics of lipid storage myopathy with recurrent drop attack

目的探讨以反复跌倒发作为突发临床表现脂质沉积性肌病(lipid storage myopathy,LSM)的临床特点、病理学改变、影像学诊断方法。方法选取1例临床确诊的LSM患者,调查其发病情况、病程变化及误诊情况;对其临床表现、病理学及影像学等方面进行研究。结果该患者青年起病,10a病程,临床主要表现为反复发作的双下肢无力,类似缺血性脑血管病的跌倒发作。磁共振平扫及血管成像(MRA)未发现脑部损害。腓肠肌开放式肌肉活检:光镜下见肌纤维轻度大小不一,肌纤维胞浆内可见明显大量小空泡。结论临床上貌似缺血性脑血管病的跌倒发作应注意与脂质沉积病相鉴别,头颅磁共振的和开放式肌肉活检是确诊该病的重要方法。

Objective To study the clinical and pathological characteristics of lipid storage myopathy with recurrent drop attack.Methods Comprehensive analysis of the characteristics of clinical ,laboratory and pathological of a patient with lipid storage myopathy was carried out.Results The biopsy in the skeletal muscle showed many fibers contained numerous vacuoles which was stained by oil red O.The blood lactic acid and creatases concentration was higher apparently.No lesion was found in MRI.Conclusion It is difficult to diagnose lipid storage myopathy with recurrent drop attack ,while skeletal muscle biopsy and pathological analysis is a trustworthy measure for the definite diagnosis of lipid storage myopathy.