脂质沉积性肌病的临床和病理特点  

Analysis of clinical features of lipid storage myopathy

作　　者：袁泉[1] 王敏[1] 卢岩[1] 刘璐[1] 笪宇威[1] 贾建平[1] 

机构地区：[1]首都医科大学宣武医院神经内科,北京100053

出　　处：《卒中与神经疾病》2012年第5期259-261,共3页Stroke and Nervous Diseases

摘　　要：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 study the clinical characteristic of lipid storage myopathy as to offer evidences of early diagnosis and treatment. Methods The clinical features of 5 patients diagnosed by the criteria of LSM were ret- rospectively analyzed. Results The clinical features of the 5 patients were suhacute or chronic onset proximal muscle weakness and exercise intolerance Elevated levels of creatases were measured in serum and myogenic damage was found by EMG examination. Frozen sections of muscle biopsy samples showed many fibers contained numerous vaeu oles which was stained by oil red O. Treatment with energy supplement, low-fat diet and glucocorticoid had been clin- ically beneficial. Conclusions LSM is a lipid metabolic myopathy which manifests by muscle weakness and fatigue It is useful for definitive diagnosis of the disease to perform muscle biopsy.

关 键 词：脂质沉积性肌病 肌肉活检 病理学 

分 类 号：R746[医药卫生—神经病学与精神病学]