脂质沉积性肌病30例临床资料分析

Clinical features in 30 cases of lipid storage myopathy

目的总结脂质沉积性肌病(LSM)的临床特点。方法总结30例LSM患者的临床资料并复习文献。结果LSM是脂肪酸代谢异常所致,90.0%以上患者有发作性近端肌无力,不耐受疲劳;73.3%有眼肌、颈肌受累;46.7%有消化道症状。60.0%～86.7%的患者肌酶升高;83.3%有肌电图异常,其中77.0%为肌源性损害;93.1%有脂质沉积;可有血浆肉毒碱降低。泼尼松或能量支持治疗有效率为95.2%。结论LSM是肌无力原因之一,可多系统受累或与其他代谢异常共存,多数预后较好。

Objective To clarify the clinical features of lipid storage myopathy （LSM）. Methods The clinical data of 30 LSM patients and recent relational literatures were reviewed. Results LSM was due to disorders of fatty acid metabolism. The most frequent characters were fluctuating fatigability, myasthenia in proximal limbs （ 〉90. 0% ）, especially in bulbar and（or） cervical muscles （73.3%）. Gastrointestinal symptoms were found in 46. 7% of 30 patients. Increase of muscle enzymes was detected in 60.0%- 86.7% of all patients. Electromyogram abnormality was seen in 83.3% of all patients, including myogenic lesions （77.0%）. Muscle biopsy discovered a marked depositing of lipid droplets in 93.1% of patients. Corticosteroids or energetic supportive treatment was effective in 95.2% of patients. Two patients showed a decrease of serum carnitine level. Conclusions LSM should be one of reasons for myasthenia, often associated with other metabolism abnormalities, and the prognosis is usually benign.