论文部分内容阅读
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 the clinical data of 1 patient with lipid storage myopathy (LSM), and to analyze the clinical features, pathological features and therapeutic effects of the related literature. Methods The clinical manifestations, EMG, laboratory tests and muscle biopsies of 1 LSM were studied. Results The clinical manifestations of patients with proximal limb weakness and intolerance to exercise; EMG showed myogenic damage; serum muscle enzymes have varying degrees of increase; muscle biopsy showed a large number of lipid droplets within the muscle deposition. To low-fat, high carnitine diet, adrenal hormones, B vitamins, coenzyme Q10 and other treatment, the patient’s symptoms ease. Conclusion LSM is a lipid metabolism disorder characterized by muscle weakness and motor fatigue. The diagnosis is based on the comprehensive evaluation of symptoms, signs, muscle enzymes, carnitine, EMG and muscle biopsy. Muscle biopsy found that intramuscular lipid deposition is clinically important method of diagnosis of the disease and indicators. Corticosteroids, carnitine, vitamins and foods rich in carnitine and other comprehensive treatment to improve clinical symptoms.