Jiao Xianru, Gong Pan, Niu Yue, Xu Zhao, Wu Ye, Zhang Yuehua, Yang Zhixian
Department of Pediatrics, Peking University First Hospital, Beijing, China.
Front Neurol. 2022 May 12;13:895978. doi: 10.3389/fneur.2022.895978. eCollection 2022.
To analyze the clinical features, treatment, and prognosis of patients with vitamin B6-responsive infantile spasms (IS).
The clinical features, genetics, and follow-up data of 30 patients were collected and analyzed.
The age of epileptic spasms (ES) onset was from 3 months to 12 months. They all received high doses of vitamin B6 at different times after the onset of ES, ranging from 1 day to 5 months. ES were controlled within 11 days in 93% (28/30) patients, and as late as 1 month and 2 months in the other two patients. In the course of treatment, 28 patients were seizure-free all the time, and seizures of other two patients recurred due to withdrawal of vitamin B6. The available follow-up EEG results of 28 patients were normal in 26 cases, and 81% (21/26) had suppressed epileptic discharges within 6 months. Of the 26 cases with normal follow up EEG, 4 had developmental delay and 22 had normal development. The time for EEG to return to normal in 22 patients with normal development ranged from 14 days to 2 years (mean = 111.5 days; median = 52.5 days). The time for EEG to return to normal in the other 4 patients with development delay ranged from 4 months to 2 years (mean = 375 days; median = 330 days). To the last follow-up, seizures were controlled well in 29 surviving patients, and 21 patients were able to deactivate from all medications without seizures recurrence. Sixteen patients showed varying degrees of developmental delay after onset. After seizure control, the psychomotor development was delayed in 7 patients (one died) until the last follow-up. Genetic analysis did not show any meaningful results.
An observation period of 1-2 weeks is essential to identify patients with vitamin B6-responsive IS. The treatment time could be extended according to the treatment response and EEG changes. It might take a longer time for EEG to return to normal and to stop taking drugs in patients with persistent or unimproved developmental delay. Neurodevelopmental outcomes and prognosis of vitamin B6-responsive IS were relatively favorable.
分析维生素B6反应性婴儿痉挛症（IS）患者的临床特征、治疗及预后。
收集并分析30例患者的临床特征、遗传学及随访数据。
癫痫痉挛（ES）发作年龄为3个月至12个月。ES发作后不同时间（1天至5个月）均接受了高剂量维生素B6治疗。93%（28/30）的患者在11天内ES得到控制，另外2例患者分别在1个月和2个月时得到控制。治疗过程中，28例患者一直无癫痫发作，另外2例患者因停用维生素B6癫痫复发。28例患者可获得的随访脑电图结果中，26例正常，其中81%（21/26）在6个月内癫痫放电得到抑制。26例脑电图随访正常的患者中，4例有发育迟缓，22例发育正常。22例发育正常患者脑电图恢复正常的时间为14天至2年（平均=111.5天；中位数=52.5天）。另外4例发育迟缓患者脑电图恢复正常的时间为4个月至2年（平均=375天；中位数=330天）。至末次随访时，29例存活患者癫痫控制良好，21例患者能够停用所有药物且无癫痫复发。16例患者发病后出现不同程度的发育迟缓。癫痫控制后，7例患者（1例死亡）的精神运动发育延迟至末次随访。基因分析未显示任何有意义的结果。
1 - 2周的观察期对于识别维生素B6反应性IS患者至关重要。治疗时间可根据治疗反应和脑电图变化延长。发育迟缓持续或未改善的患者脑电图恢复正常及停药可能需要更长时间。维生素B6反应性IS的神经发育结局和预后相对良好。
