中国实用神经疾病杂志2018，Vol.21Issue(24)：2692-2696,5.DOI:10.12083/SYSJ.2018.24.562
核黄素反应性脂质沉积性肌病两家系临床分析
Clinical analysis of riboflavin-reactive lipid storage myopathy in two families
摘要
Abstract
Objective To investigate the clinical features of riboflavin-reactive lipid storage myopathy (LSM) caused by ETFDH gene mutation and the therapeutic effect of using riboflavin.Methods Three patients in two family with LSM were diagnosed by muscle magnetic resonance imaging (MRI), biopsy, and genetic testing, and the changes in motor symptoms before and after treatment with riboflavin were evaluated.Results In both 3 patients, MRI and muscle biopsy of the left deltoid muscle showed muscle lipid deposition.The gene detection revealed the presence of the complex heterozygous mutation c.1395 dupT (p.G466 Wfs*24) and c.770 A＞G (p.Y257 C) in the ETFDH gene in one patient, and two patients carry the c.770 A＞G (p.Y257 C) homozygosis mutation in the ETFDH gene, and significant improvement in motor symptoms were observed after 1 month of treatment with riboflavin in 3 patients.Conclusion This report suggests that patients with dual lower limb weakness caused by no obvious cause can be diagnosed by muscle biopsy and genetic testing, and the application of riboflavin can effectively improve the patient's motor symptoms.关键词
脂质沉积性肌病/ETFDH基因/肌肉活检/核黄素/基因检测Key words
Lipid storage myopathy/ETFDH gene/Muscle biopsy/Riboflavin/Genetic Testing分类
医药卫生引用本文复制引用
陈永康,刘晗,袁心,王雪晶,滕军放..核黄素反应性脂质沉积性肌病两家系临床分析[J].中国实用神经疾病杂志,2018,21(24):2692-2696,5.基金项目
国家自然科学基金(编号:81671267) （编号:81671267）
