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终板胆碱酯酶缺失型先天性肌无力综合征一家系的临床、电生理、肌肉病理和基因研究

Clinical manifestations, electrophysiology, pathology and gene diagnosis in a Chinese family of endplate acetylcholinesterase deficient congenital myasthenic syndrome

摘要:

目的 分析终板胆碱酯酶缺失型先天性肌无力综合征家系的临床、电生理、肌肉病理和基因特点.方法 先证者为15岁女性,出生即发现眼睑下垂、运动易疲劳、生长发育迟滞,病情缓慢进展,青少年期出现眼球活动受限、呼吸功能下降和脊柱侧弯.有一姐有类似表现,1岁时因肺部感染夭折.对先证者进行全面血液检测、电生理检查、肌肉病理和基因检测,并对父母进行家系验证.结果 先证者电生理检查可见运动神经传导单次刺激出现重复复合肌肉动作电位,重复神经电刺激可见低频递减、高频快速递减-轻度递增-递减-稳定现象.针极肌电图提示轻度肌源性损害.单纤维肌电图可见颤抖值增宽.肌肉活体组织检查符合轻度肌原性改变.基因检测发现COLQ基因c.1082delC、c.1190G >A复合杂合突变,分别来源于父母.结论 COLQ基因缺陷导致的终板胆碱酯酶缺失型先天性肌无力综合征具有特殊电生理改变,有助于识别.麻黄碱为首选治疗药物.

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abstracts:

Objective To report the clinical presentations,lab tests,electrophysiological studies,muscle biopsy and the genetic investigation of the endplate acetylcholinesterase deficient congenital myasthenic syndrome (CMS).Methods The proband,a 15 years old girl,presented ptosis,exerciseintolerant and delayed motor developmental milestones from birth.The disease progressed slowly.After 12 years old,the girl showed limited eye movements,decreased ventilation and scoliosis.Her elder sister had the same symptoms and died of severe respiratory infection when she was one year old.Profound blood tests,electrophysiological studies,muscle biopsy,next generation sequencing and pedigree validation were performed on the proband.Results The electrophysiological studies showed repeated compound muscle action potential in response to single nerve stimulus,decremental response following 3-5 Hz repetitive nerve stimulation and rapid decrement-slight increment-decrement-stable response course following 10-50 Hz repetitive nerve stimulation.Electromyography (EMG) showed slight myogenic changes.Single fiber-EMG disclosed increased jitter.The muscle biopsy indicated unspecific myopathic changes.DNA analysis revealed a compound heterozygous mutations,c.1082delC and c.1190G > A,in COLQ gene.The pedigree tests validated the mutations were inherited from father and mother separately.Conclusions The COLQ-mutant endplate acetylcholinesterase deficient CMS has distinctive electrophysiological features,which is the hint for diagnosis.Treatment with ephedrine is recommended to this type of CMS.

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