摘要
目的 报道一个先天性肌无力综合征(CMS)的家系临床、病理、基因突变特点,并报道CMS所致的严重脊柱侧弯经脊柱矫形治疗的5年随访观察。方法 描述2例患者的病情发展过程,肌肉活检病理染色,对2例患者全外显子测序和家系验证。应用脊柱矫形手术治疗哥哥的脊柱侧弯,并应用药物治疗随访。结果 先证者弟弟18个月,眼睑下垂、眼球运动障碍、软婴、生长发育迟缓,便秘。哥哥16岁,眼睑下垂、眼球固定、脊柱侧弯,四肢肌无力、肌萎缩。依据临床症状、新斯的明实验加重症状、EMG重复电刺激衰减现象,临床诊断为先天性肌无力综合征。全外显子测序结果显示在COLQ基因c. 173delC(p. P58fs*21)位点和c.C706T(R236X)位点2个复合杂合突变,其中c. 173delC是新突变。针对16岁的哥哥进行了为期2年的脊柱侧弯矫形手术治疗,包括头盆环牵引、脊柱松解手术、脊柱侧弯椎体截骨矫形内固定术和胸廓成形术治疗。最终结果显示,患者身高从136 cm增高到153 cm,胸段Cobb角从144°降到70°,面容狭长也得到了纠正。弟弟药物治疗效果中等,脊柱侧弯有一定程度进展。结论 报道了2例COLQ基因c. 173delC和c. C706T突变导致的CMS家系,证明了脊柱矫形手术治疗对CMS所致的严重脊柱侧弯可以缓解病情,提高生存质量。
Objective To report the clinical,pathological and genetic characteristics of a Chinese Congenital myasthenic syndromes(CMS)family due to COLQ gene mutation. And report the successful treatment of scoliosis due to CMS through spinal correction surgery and 5 year follow up. Methods The disease courses of the two patients and the pathological staining of the muscle biopsy from the proband was descripted. Whole exome sequencing was performed on the 2 patients and family verification were conducted on the all family members. Spinal correction surgeries were performed to treat the brother's scoliosis. The result of surgery and the effect of drug treatment was followed up. Results The proband was an 18-month-old boy,who presented with ptosis,ophthalmoplegia,floppy infant,growth retardation,and constipation. The older brother was 16 years old,who presented with ptosis,fixed eyeballs,scoliosis,limb muscle weakness,and muscle atrophy. Based on the clinical symptoms,worsening of symptoms by neostigmine test,and decrement of compound action potential on repetitive nerve stimulation,the clinical diagnosis of congenital myasthenic syndrome was considered. Whole exome sequencing results showed two compound heterozygous mutations at c. 173delC(p. P58fs * 21)and c. C706T(R236X)on the COLQ gene respectively. Of which the c. 173delC was a new mutation. Spinal correction surgery was performed on the 16-year-old brother which lasted 2 years,including head-pelvic ring traction,spinal release surgery,spinal scoliosis osteotomy correction internal fixation surgery and thoracoplasty. The final result showed that his height increased from 136 cm to153 cm,his thoracic Cobb angle decreased from 144° to 70°,and his distorted face was also corrected. The younger brother had moderate drug treatment effect and scoliosis progressed to some extent. Conclusions We reported two cases of CMS caused by COLQ gene c. 173delC and c. C706T mutations. This report suggested that spinal correction surgery can be used in CMS-induced severe scoliosis to rel
作者
沙倩倩
曾文
梁益建
都爱莲
SHA Qianqian;ZENG Wen;LIANG Yijian(Department of Neurology,Tongren Hospital,Shanghai Jiaotong,University School of Medicine,Shanghai 200336,China)
出处
《临床神经病学杂志》
CAS
2023年第5期357-361,共5页
Journal of Clinical Neurology
基金
国家自然科学基金(81971181)
上海市同仁医院领军人才项目(TRKYRC-lj202206)。
