SCN9A基因突变引起阵发性剧痛症1例  

A case report of paroxysmal extreme pain disorder caused by SCN9A gene mutation

作　　者：李花 欧阳梅 金洋 张佩琪 郭静 闫宏钧 赵黎明 Li Hua;Ouyang Mei;Jin Yang;Zhang Peiqi;Guo Jing;Yan Hongjun;Zhao Liming(Department of Neurology,Guangdong 999 Brain Hospital,Guangzhou 510510,China)

机构地区：[1]广东三九脑科医院神经内科,广州510510

出　　处：《中华实用儿科临床杂志》2021年第9期702-705,共4页Chinese Journal of Applied Clinical Pediatrics

摘　　要：对2019年3月广东三九脑科医院诊断的1例阵发性剧痛症(PEPD)患儿的临床资料进行回顾性分析。患儿,男,首次就诊年龄7月龄,出生后5个月开始反复出现四肢强直发作,伴面部发红或发绀,反复出现,按照癫痫予丙戊酸钠口服液及左乙拉西坦口服液治疗,效果不佳。视频脑电图检查提示,患儿强直发作时同步脑电图未见癫痫样放电,且患儿出现心动过缓,考虑患儿为非癫痫性强直发作。基因检查提示:SCN9A基因c.5240T>C突变,导致氨基酸改变:Val1747Ala,结合患儿皮肤改变,确诊为SCN9A基因突变所致PEPD,予卡马西平治疗后患儿异常皮肤改变及非癫痫性强直发作消失,发育明显进步。PEPD早期可主要表现为非癫痫性强直发作,易误诊为癫痫,需注意患者特征性皮肤改变,基因检查也有助于确诊该病。The clinical data of a case of paroxysmal extreme pain disorder(PEPD)in Guangdong 999 Brain Hospital were retrospectively analyzed.The male patient,age of first examination was 7 months,began to have recurrent tonic accompanied by facial redness or cyanosis at 5 months after birth.The patient was diagnosed with epilepsy.The oral solution of sodium valproate and Levetiracetam were not effective.The video electroencephalogram examination displayed that,when the patient had tonic and bradycardia,the synchro electroencephalogram did not show epileptic discharge,so the patient was considered to have non-epileptic tonic.Genetic examination suggested that SCN9A gene mutation of c.5240T>C resulted in amino acid changes:Val1747Ala.Combined with the skin changes,the patient was diagnosed as PEPD caused by SCN9A gene mutation.After the treatment with Carbamazepine,the patient′s abnormal skin changed and his-epileptic tonic disappeared,and his condition improved significantly.The early stage of PEPD can be mainly manifested as non-epileptic tonic.It is easy to be misdiagnosed as epilepsy,so the patient′s characteristic skin changes should be noticed,and genetic examination is also helpful in the diagnosis of the disease.

关 键 词：SCN9A基因 阵发性剧痛症 癫痫 

分 类 号：R742.1[医药卫生—神经病学与精神病学]