脂质沉积性肌病(附1例报道)

Lipid storage myopathy:one case report

目的报道1例临床上少见的脂质沉积性肌病(lipid storage myopathy,LSM)患者的临床资料,结合相关文献分析其临床特点、病理特征及治疗效果。方法对1例LSM患者的临床表现、肌电图、实验室检查、及肌肉活检等方面进行了探讨。结果患者临床表现为四肢近端肌无力和对运动不耐受;肌电图示肌源性损伤;血清肌酶都有不同程度的升高;肌肉活检显示肌纤维内有大量脂滴沉积。予低脂、高肉毒碱饮食,肾上腺皮质激素、B族维生素、辅酶Q10等治疗后,患者症状缓解。结论 LSM是一种以肌无力和运动易疲劳为主要临床表现的脂质代谢障碍性肌病,诊断需依赖症状、体征、肌酶、肉毒碱检查和肌电图、肌活检等综合评价。其中肌活检发现肌纤维内脂质沉积是目前临床上诊断此病的重要方法和指标。肾上腺皮质激素、肉毒碱、维生素、及含有丰富肉毒碱食物等综合治疗对改善临床症状有效。

Objective To report a case of lipid storage myopathy,and to analyze the clinical,pathological feature and therapeutic effects through reviewing the related documents. Methods Systematic study of one case on the clinical manifestation,neuroelectricity,lab exam and muscle biopsy was performed. Results The main clinical manifestation of this disease was characterized by weakness of the proximal limbs muscle and sports intolerance.Electromyogram showed myogenic lesion.The level of serum creatine kinase increases to varying degrees.The muscle pathology indicates the typical aggradation of lipid in the musle fiber.The symptoms of patient ameliorated after being administrated with durgs,such as corticoid,vitamin B,coenzyme Q10,low fat and high carnitine diet. Conclusions LSM is a kind of myopathy caused by lipid dysmetabolism.The main clinical manifestations of LSM is weakness and easy fatigue.Current diagnosis of the disease depends on the clinical manifestation,serum creatine kinase,carnitine content,EMG and muscle biopsy,and the confirmed diagnosis is due up to pathological feature of muscle biopsy.The combined therapies with corticoid,carnitine,vitamin and diet abundant of carnitine are effective to attenuate the clinical symptoms.