26例脂质沉积性肌病的临床特点

目的 总结脂质沉积性肌病（lipid storage myopathy LSM）的临床特征.方法 回顾性分析本院2009-2013年确诊的26例LSM患者的临床资料.结果 LSM主要临床特点为近端无力和运动不耐受,肌酶谱轻中度升高,肌电图呈肌源性损害或神经源性损害,肌肉MRI检查早期选择性累及大腿后组肌群,尿和血代谢可出现特异性改变,病理检查油红O染色显示空泡为大量脂滴充填,电镜证实肌纤维内脂滴堆积;积极治疗可好转,但病情易反复.结论 LSM临床表现不特异,肌活检是目前诊断LSM的重要方法,LSM患者肌肉MRI、尿和血代谢有特征性改变,基因检查可进一步明确病因.

The clinical characteristics of 26 cases of lipid storage myopathy and diagnosis and treatment progress

Objective To summarize the clinical characteristics, pathological features, diagnosis and treatment evolution and prognosis of followup of lipid storage m,yopathy （LSM）. Methods The clinical data of 26 confirmed lipid storage myopathy patients in our department between 2009 and 2013 were retrospective analysed. Results The main clinical features of patients were proximal muscle weakness and exercise intoler ance, mild to moderate elevated ereatases were measured in serum and myogenic or neurogenic damages were found by EMG examination. Muscle magnetic resonance imaging （MRI） showed early selected involvement of thigh dorsal muscle groups. Special metabolic features can appeared in patients with urine and blood. Patho logic examination oil red O staining showed cavity for a large number of lipid droplets and electron microscopy confirmed the excessive amounts of fatty droplets in muscle fibers. Active treatment can improve symptom, but easy to relapse. Conclusions The clinical manifestations of LSM are nonspeeific and muscle biopsy patho logical change was a trust worthy method for the diagnosis of LSM. Muscle MRI, urine and blood metabolism examination showed characteristic changes and further clarify the cause depends on genetic testine.