神经纤维瘤病1型并癫痫发作15例临床特征  

Clinical characteristics of epileptic seizure in neurofibromatosis type 1 in 15 cases

作　　者：吴凡 姬辛娜[1] 沈梦晓 冯硕[1] 谢丽娜[1] 高彦彦 李淑品 杨爱云 王建华[2] 陈倩[1,4] 张学[3] Wu Fan;Ji Xinna;Shen Mengxiao;Feng Shuo;Xie Lina;Gao Yanyan;Li Shupin;Yang Aiyun;Wang Jianhua;Chen Qian;Zhang Xue(Department of Neurology,Children′s Hospital Capital Institute of Pediatrics,Beijing 100020,China;Translational Medicine Laboratory,Beijing Key Laboratory of Child Development and Nutriomics,Capital Institute of Pediatrics,Beijing 100020,China;Department of Medical Genetics,Institute of Basic Medical Sciences,Chinese Academy of Medical Sciences,School of Basic Medicine,Peking Union Medical College,Beijing 100730,China)

机构地区：[1]首都儿科研究所附属儿童医院神经内科,北京100020 [2]首都儿科研究所转化医学研究室,儿童发育营养组学北京市重点实验室,北京100020 [3]中国医学科学院基础医学研究所,北京协和医学院基础学院医学遗传学系,北京100730 [4]中国医学科学院,北京协和医学院研究生院,北京100730

出　　处：《中华儿科杂志》2023年第12期1124-1128,共5页Chinese Journal of Pediatrics

基　　金：国家重点研发计划(2022YFC2703903);首都儿科研究所所级课题(JHYJ-2023-03)。

摘　　要：目的:总结神经纤维瘤病1型(NF1)并癫痫发作的临床特征。方法:病例系列研究,收集2017年1月至2023年7月在首都儿科研究所附属儿童医院就诊的15例NF1并癫痫发作患儿的病例资料,对其临床特征、治疗情况和预后进行总结分析。结果:15例NF1并癫痫发作患儿中男12例、女3例。15例患儿均有皮肤咖啡牛奶斑,6例存在神经发育障碍以智力障碍或发育落后为主。首次癫痫发作年龄为2.5(1.2,5.5)岁,癫痫发作形式多样,包括全面强直-阵挛发作8例、局灶运动性发作6例、痉挛发作4例、强直发作1例、失神发作1例、全面性肌阵挛发作1例、局灶性继发双侧强直-阵挛发作1例。14例可获得颅脑磁共振成像结果的患儿中,6例胼胝体、基底节、丘脑、小脑等部位点片状异常信号,3例不同程度脑室扩大,2例灰白质分界模糊,1例胼胝体发育不全,余无明显异常。13例符合癫痫诊断的患儿中,8例应用1~2种抗癫痫药物后不再发作,1例药物难治性癫痫患儿在接受左侧颞叶切除术后未再发作,4例曾应用2~9种抗癫痫药物,仍未控制发作。1例复杂热性惊厥患儿发热时口服地西泮预防性治疗,未再发作,1例患儿仅非诱发性癫痫发作1次,未应用抗癫痫药物,未再发作。结论:NF1患儿的首次癫痫发作多于婴幼儿期出现,以全面强直-阵挛发作和局灶运动性发作为主,可合并智力障碍或发育迟缓。对于诊断癫痫者,多数可经抗癫痫药物治疗完全缓解。Objective To summarize the clinical characteristics of epileptic seizure associated with neurofibromatosis type 1(NF1).Methods From January 2017 to July 2023 at Children′s Hospital Capital Institute of Pediatrics,medical records of patients with both NF1 and epileptic seizure were reviewed in this case series study.The clinical characteristics,treatment and prognosis were analyzed retrospectively.Results A total of 15 patients(12 boys and 3 girls)were collected.Café-au-lait macules were observed in all 15 patients.There were 6 patients with neurodevelopmental disorders and the main manifestations were intellectual disability or developmental delay.The age at the first epileptic seizure was 2.5(1.2,5.5)years.There were various seizure types,including generalized tonic-clonic seizures in 8 patients,focal motor seizures in 6 patients,epileptic spasm in 4 patients,tonic seizures in 1 patient,absence in 1 patient,generalized myoclonic seizure in 1 patient and focal to bilateral tonic-clonic seizure in 1 patient.Among 14 patients whose brain magnetic resonance imaging results were available,there were abnormal signals in corpus callosum,basal ganglia,thalamus or cerebellum in 6 patients,dilated ventricles of different degrees in 3 patients,blurred gray and white matter boundary in 2 patients,agenesis of corpus callosum in 1 patient and no obvious abnormalities in the other patients.Among 13 epilepsy patients,8 were seizure-free with 1 or 2 antiseizure medications(ASM),1 with drug resistant epilepsy was seizure-free after left temporal lobectomy,and the other 4 patients who have received 2 to 9 ASM had persistent seizures.One patient with complex febrile convulsion achieved seizure freedom after oral administration of diazepam on demand.One patient had only 1 unprovoked epileptic seizure and did not have another seizure without taking any ASM.Conclusions The first epileptic seizure in NF1 patients usually occurs in infancy and early childhood,with the main seizure type of generalized tonic-clonic seizure and focal mo

关 键 词：神经纤维瘤病1型 癫痫 预后 

分 类 号：R742.1[医药卫生—神经病学与精神病学] R739.4[医药卫生—临床医学]