目的探讨儿童以惊厥发作为核心症状的中枢神经系统神经元表面抗体综合征的临床特征方法收集2015年12月-2016年12月在华中科技大学同济医学院附属武汉儿童医院神经内科收治10例中枢神经系统神经元表面抗体综合征的患儿,所有患儿均以惊厥发作为核心症状人院、结果男1例,女9例,就诊年龄3~13岁,病程3~14d。10例患儿就诊时主要症状均为惊厥发作,2例强直发作,1例强直阵挛发作,7例部分性发作;其中6例患儿出现惊厥持续状态,丛集性发作,后续在病程5~30d时出现精神行为异常。7例患儿有手不自主动作,1例出现肌张力不全,2例出现多种锥体外系症状。1O例患儿行脑脊液自身免疫性抗体检测,9例抗N-甲基-D-天冬氨酸受体(N-methy-D-aspartate recptor,NMDAR)抗体阳性,1例抗LGI1抗体阳性。7例脑电图(EEG)表现为慢波、尖慢波,2例棘波,1例慢波。1例患儿头颅核磁共振(MRI)异常。10例患儿急性期行丙种球蛋白联合激素冲击治疗,8例临床症状作免疫治疗后7~21d好转,随访3~6个月,未再发作。2例抗NMDAR抗体相关性癫痫患儿急性期抗癫痫药物(AEDs)单药治疗效果差,联合一线免疫疗法,发作控制可,但后期复发,一线治疗失败,予二线免疫疗法环磷酰胺定期冲击治疗有效。结论惊厥发作可为儿童中枢神经系统神经元表面抗体综合征首次发病形式,对于临床上起病急骤的惊厥发作,合并有惊厥持续状态,应注意早期筛查惊厥发作的免疫因素。常见的神经元表面抗体以NMDAR抗体为主,惊厥发作时EEG表现以慢波、尖慢波为主,头颅MRI多无特异性。AEDs联合免疫治疗有效,在发病初期及时给予免疫治疗,对癲痫发作控制效果较好。一线治疗失败,可行二线免疫疗法环磷酰胺定期冲击治疗。 Objective To investigate the clinical features of neuron surface antibody syndrome in children with seizures as the core symptoms collected from December 2015 to December 2016 in Wuhan Children’s Hospital, Tongji Medical College, Huazhong University of Science and Technology. Ten patients with central nervous system syndrome All children with convulsive onset as the core symptom of children with neuronal surface antibody syndrome, the results of 1 male and 9 female, aged 3 to 13 years of age, duration of 3 ~ 14d. The main symptoms of 10 cases were seizures, 2 cases of tonic attack, 1 case of tonic clonic seizures and 7 cases of partial seizures; 6 cases of convulsions persisted state, clustered seizures, follow-up in the course of 5 ~ 30d mental abnormalities occurred. Seven children had involuntary hand movements, one had dystonia and two had extrapyramidal symptoms. Cerebrospinal fluid autoantibodies were detected in 10 children, 9 were positive for N-methy-D-aspartate receptor (NMDAR) antibody and 1 was positive for anti-LGI1 antibody. Seven cases of electroencephalogram (EEG) showed slow wave, sharp wave slow, 2 cases of spikes, 1 case of slow wave. One patient had abnormal cranial magnetic resonance imaging (MRI). Ten cases of children with acute gamma globulin and hormone therapy, 8 cases of clinical symptoms after immunotherapy 7 ~ 21d improved, followed up for 3 to 6 months, no further episodes. Two patients with anti-NMDAR antibody-associated epilepsy had a poor response to monotherapy with AEDs. Combined with first-line immunotherapy, the onset of seizures could be controlled. However, the first-line treatment failed and the second-line immunotherapy cyclophosphamide Effective treatment. Conclusions Convulsive seizures may be the first form of neuron surface antibody syndrome in children with CNS. For the onset of seizures with sudden onset in clinic, convulsions persist, and the immune factors of seizure should be screened early. Common neuronal surface antibodies to NMDAR antibodies, seizures EEG performance of slow wave, sharp slow wave based, more non-specific MRI of the skull. AEDs combined immunotherapy effective, timely immunization in the early onset of the treatment of epileptic seizures better. First-line treatment fails, feasible second-line immunotherapy Cyclophosphamide regular impact treatment.