核黄素反应性脂质沉积性肌病两家系临床分析

摘要

目的 探讨由ETFDH基因突变引起的核黄素反应性脂质沉积性肌病 (Lipid storage myopathy, LSM) 的临床特点以及核黄素的治疗效果.方法 通过肌肉磁共振 (MRI) 、肌肉活检及基因检测确诊两家系3例LSM患者, 并评估给予核黄素治疗前后患者运动症状的变化.结果 2例左侧三角肌肌肉MRI与肌肉活检提示肌肉脂质沉积, 基因检测揭示1例存在ETFDH基因c.1395dupT (p.G466Wfs*24) 和c.770A＞G (p.Y257C) 复合杂合突变, 2例存在ETFDH基因c.770A＞G (p.Y257C) 纯合突变, 3例经核黄素治疗1个月后运动症状均得到显著改善.结论 对于无明显诱因引起的双下肢无力患者, 可通过肌肉活检和基因检测进行确诊, 且核黄素能够有效改善运动症状.%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.