Objective To analyze clinical characteristics,treatment and prognosis in a cohort of children with vitamin B6 responsive infantile spasms.Method Ten patients were diagnosed as vitamin B6 responsive infantile spasms in Peking University First Hospital between January 2012 and May 2015.The clinical manifestations,diagnosis and treatment process,video-electroencephalogram,magnetic resonance imaging (MRI),epilepsy related genes and prognosis were retrospectively analyzed.Result Of the 10 patients,5 were male,and 5 were female.Eight of them were normal at birth,and the other 2 patients had intracranial hemorrhage or anoxia.The age of epilepsy onset was from 3.5 to 8.0 months.All patients presented spasms primarily.Interictal electroencephalogram (EEG) showed hypsarrhythmia at seizures onset.MRI showed normal in 8 patients,and subarachnoid hemorrhage or multiple encephalomalacia foci after hemorrhage respectively in the other 2 patients.The results of blood biochemical,cerebrospinal fluid examination and urinary metabolic screening were negative.Epilepsy related genes including ALDH7A1 gene analysis showed wild type in all patients.Two patients were classified as symptomatic and eight might be idiopathic or cryptogenic.The initial dose of vitamin B6 was 10.0 mg/(kg · d).The interval between seizures onset and taking vitamin B6 was 0 to 4.0 months.Seizures disappeared completely within a week after administration of vitamin B6 in 9 patients and in 1.5 months in one patient.Of the 8 patients whose seizures were controlled completely during the follow-up period,7 patients' EEG recovered within 1.5 to 4.0 months and then continued to be normal.The EEG of the rest of a patient returned to normal,but showed abnormal discharges after stopping taking vitamin B6.Two patients' EEG continued abnormal and seizures recurred due to vitamin B6 withdrawal.At the last follow-up,seizures were controlled in all patients.Drug treatment in one case had stopped.Vitamin B6 was used in 9 patients at a dose of 0.4 to 10.0 mg/(kg · d).Among them,vitamin B6 monotherapy or coadministration with one low dose antiepileptic drug was applied in 6 or 3 patients respectively.The psychomotor development was normal in 5 patients,mild delay in 3 patients,and severe delay in 2 patients with autism behavior.Of the 2 symptomatic patients,one developed normally and the other showed severe delay.Conclusion Vitamin B6 might have effects on both idiopathic or cryptogenic and symptomatic patients,especially for the former.High dose vitamin B6 should be first tried in all patients with infantile spasms.Patients who had response to vitamin B6 could be controlled within a short time and might have better outcomes.Seizures were not easy to relapse in those whose seizures were controlled and EEG recovered completely.Vitamin B6 could be gradually reduced during the course and might be withdrawn in the future.The recurrence of seizures was closely related to EEG abnormality.%目的 分析维生素B6反应性婴儿痉挛患儿的临床特征、治疗过程及预后.方法 对2012年1月至2015年5月北京大学第一医院诊治的10例维生素B6反应性婴儿痉挛患儿的临床表现、诊治过程、脑电图及神经影像学、癫痫相关基因及预后进行回顾性分析.结果 10例患儿中男、女各5例.8例出生史正常,2例有生后颅内出血或缺氧史.起病年龄为3.5 ～8.0个月.均以痉挛发作为主要发作类型,起病时脑电图发作间期均为高度失律.头颅MRI显示8例正常,2例异常分别为蛛网膜下腔出血或多发性脑出血后软化灶.所有患儿血液生化、脑脊液、尿代谢筛查等均未见异常,包含ALDH7A1基因在内的癫痫相关基因包检测结果均为阴性.2例病因归为症状性,8例可能为特发性或隐源性.维生素B6的初始维持剂量均为10.0 mg/(kg·d),自起病至选用维生素B6治疗间隔0 ～4.0个月.9例单用或加用维生素B6后1周内1例为1.5个月时癫痫发作消失.随访2个月至3年3个月,8例无复发(其中7例脑电图1.5 ～4.0个月转为正常,1例脑电图恢复正常后停药再次出现异常放电);2例脑电图持续异常,并因减、停维生素B6癫痫发作复发.至末次随访,10例癫痫发作均控制,1例已停药,9例服用0.4～10.0 mg/(kg·d)的维生素B6,其中3例联合低于最低有效维持量的一种抗癫痫药,6例仅服维生素B6.5例智力运动发育基本正常,3例轻度落后,2例重度落后并有孤独症表现.2例症状性婴儿痉挛中1例发育正常,1例重度落后.结论 维生素B6对特发性或隐源性和症状性婴儿痉挛均有效,对前者有效率更高.婴儿痉挛首选大剂量维生素B6治疗,有反应者可短期恢复正常,预后相对较好.癫痫发作控制且脑电图恢复正常者不易复发,病程中维生素B6维持剂量可减低且停药,而脑电图异常与复发密切相关.
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