核黄素反应性脂质沉积性肌病临床、影像和基因特征  

Clinical,imaging and genetic characteristics of riboflavin-responsive lipid storage myopathies

作　　者：刘潇 党静霞[1] 靳娇婷[1] 李晓锋[2] 陈明霞 张荣华 胡芳芳[1] 秦星[1] LIU Xiao;DANG Jingxia;JIN Jiaoting;LI Xiaofeng;CHEN Mingxia;ZHANG Ronghua;HU Fangfang;QIN Xing(The Neurology Department,The Pathology Department,The First Affiliated Hospital of Xi'an Jiaotong University,Department of Electron Microscopy,School of Basic Medical Sciences,Xi'an Jiaotong University,Xi'an 710061,China)

机构地区：[1]西安交通大学第一附属医院神经内科,西安710061 [2]西安交通大学第一附属医院病理科 [3]西安交通大学医学部电镜室

出　　处：《中国神经精神疾病杂志》2022年第2期72-77,共6页Chinese Journal of Nervous and Mental Diseases

基　　金：陕西省自然科学基础研究计划项目(编号:2020JQ-531);陕西省重点研发计划项目(编号:2020SF-098)。

摘　　要：目的探讨核黄素反应性脂质沉积性肌病(lipid storage myopathies,LSM)患者的临床、影像及基因特征,提高对该病的认识。方法回顾分析西安交通大学第一附属医院诊治的14例核黄素反应性LSM患者的临床、影像及基因特征。结果核黄素反应性LSM常见临床表现为近端肌无力、抬头困难和咀嚼费力;3例患者以横纹肌溶解为主要表现,其中1例仅表现为横纹肌溶解。大腿肌肉磁共振的T_(1)序列显示,股二头肌长头、半膜肌较股四头肌脂肪浸润评分高[1.00(0.50,2.00)vs.0.00(0.00,0.00),P=0.023;1.00(0.00,2.00)vs.0.00(0.00,0.00),P=0.038);比目鱼肌较胫骨前肌脂肪浸润评分高[1.50(1.00,3.50)vs.0.00(0.00,0.75),P=0.026]。短时间反转恢复(short time inversion recovery,STIR)序列显示小腿胫骨后肌较胫骨前肌水肿评分高[1.50(0.75,3.00)vs.0.00(0.00,0.00),P=0.041]。6例患者行ETFDH基因检查,其中1例为纯合突变,4例为复合杂合突变,1例为单一杂合突变;共发现7种突变,包括5个已知突变(c.1227A>C,c.1211T>C,c.250G>A,c.770A>G,c.1395T>G)和2个新突变(c.599C>T,c.1188G>T)。结论不明原因的横纹肌溶解、选择性比目鱼肌脂肪化、ETFDH基因的单一杂合突变需警惕LSM可能。Objective To study the clinical,imaging and genetic characteristics of patients with riboflavin responsive lipid storage myopathies(LSM)and to increase the awareness of the disease.Method The clinical,imaging and genetic features of 14 patients with LSM diagnosed and treated in our hospital were analyzed retrospectively.Results The clinical manifestations were mainly proximal muscle weakness,dropped head,and laborious chewing.Three cases showed rhabdomyolysis as the main manifestation,and one patient showed rhabdomyolysis as the unique symptom.In imaging studies,the T1sequence of muscle MRI showed higher fatty scores in the long head and semimembranosus of the biceps femoris than in the quadriceps [1.00(0.50,2.00) vs.0.00(0.00,0.00),P=0.023;1.00(0.00,2.00) vs.0.00(0.00,0.00),P=0.038];the fatty scores were higher in the soleus than in the tibialis anterior muscle [1.50(1.00,3.50) vs.0.00(0.00,0.75),P=0.026].In STIR sequence,the posterior tibial muscle exhibited higher edema like change scores compared with anterior tibial muscle [1.50(0.75,3.00) vs.0.00(0.00,0.00),P=0.041].Among the 6 patients undergoing genetic examination,1case carried homozygous mutation,4 cases carried compound heterozygous mutation,and 1 case carried single heterozygous mutation.Total 7 mutations were found in this study including 5 known mutations(c.1227A>C,c.1211T>C,c.250G>A,c.770A>G,c.1395T>G) and 2 novel mutations(c.599C>T,c.1188G>T).Conclusion considered in patients with rhabdomyolysis syndrome of unknown cause,selective involvement of the posterior muscle groups of the lower limbs or a single heterozygous ETFDH mutation.

关 键 词：脂质沉积性肌病 晚发型多酰基辅酶 A脱氢缺陷 横纹肌溶解 肌肉磁共振 ETFDH 基因 

分 类 号：R746[医药卫生—神经病学与精神病学]