■为了分析临床特征,治疗,维生素B6反应性婴儿痉挛(IS)患者的预后。
■临床特征,遗传学,收集并分析30例患者的随访资料。
■癫痫性痉挛(ES)的发病年龄为3个月至12个月。他们都在ES发作后的不同时间接受了高剂量的维生素B6,从1天到5个月不等。93%(28/30)的患者在11天内控制了ES,另外两名患者最晚为1个月和2个月。在治疗过程中,28例患者均无癫痫发作,另外两名患者因停用维生素B6而发作。28例患者可用随访脑电图结果正常26例,81%(21/26)的患者在6个月内癫痫放电受到抑制。在26例正常随访的脑电图中,发育迟缓4例,正常发育22例。22例发育正常的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)。其他4例发育延迟患者的脑电图恢复正常时间为4个月至2年(平均375天;中位数330天)。最后的后续行动,29名存活患者的癫痫发作得到了很好的控制,21例患者能够停用所有药物而没有癫痫发作复发。16例患者发病后出现不同程度的发育迟缓。控制癫痫发作后,7例患者(1例死亡)的精神运动发育延迟至最后一次随访.遗传分析没有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。可根据治疗反应和脑电图变化延长治疗时间。对于持续或未改善的发育迟缓的患者,脑电图可能需要更长的时间才能恢复正常并停止服用药物。维生素B6反应性IS的神经发育结局和预后相对良好。
UNASSIGNED: To analyze the clinical features, treatment, and prognosis of patients with vitamin B6-responsive infantile spasms (IS).
UNASSIGNED: The clinical features, genetics, and follow-up data of 30 patients were collected and analyzed.
UNASSIGNED: 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.
UNASSIGNED: 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.