Department of Pediatrics and Neurology, University of Colorado, Aurora, Colorado.
Semin Neurol. 2020 Apr;40(2):236-245. doi: 10.1055/s-0040-1705121. Epub 2020 Mar 6.
Infantile spasm (IS) is a distinct epilepsy syndrome characterized by epileptic spasms (the clinical seizure type) and hypsarrhythmia (the electrographic abnormality). IS is frequently accompanied by impaired neurodevelopment and is often associated with structural, genetic, or metabolic etiologies. Prompt treatment of this severe epileptic encephalopathy improves long-term outcomes but remains elusive in many situations. Despite common misconceptions, even patients with identified etiologies or preexisting developmental delay benefit from proven standard therapies, including adrenocorticotropic hormone (ACTH), oral corticosteroids, or vigabatrin. Treatment efficacy should be assessed with electroencephalography at 2 weeks, and an alternative therapy is indicated if epileptic spasms or hypsarrhythmia have not resolved. Collaboration with primary care providers is critical to mitigate the potentially serious adverse effects of standard treatments and also to provide developmental interventions. Although new approaches are on the horizon, addressing current challenges and opportunities now can dramatically improve patient outcomes.
婴儿痉挛症(IS)是一种以癫痫痉挛(临床发作类型)和高度失律(脑电图异常)为特征的明确癫痫综合征。IS 常伴有神经发育障碍,常与结构、遗传或代谢病因有关。及时治疗这种严重的癫痫性脑病可改善长期预后,但在许多情况下仍难以实现。尽管存在普遍误解,但即使是有明确病因或发育迟缓的患者,也受益于已证实的标准治疗,包括促肾上腺皮质激素(ACTH)、口服皮质类固醇或氨己烯酸。应在 2 周时进行脑电图评估治疗效果,如果癫痫痉挛或高度失律仍未缓解,则应选择替代治疗方法。与初级保健提供者合作至关重要,这可以减轻标准治疗的潜在严重不良反应,同时提供发育干预。尽管新方法即将出现,但现在解决当前的挑战和机遇可以显著改善患者的预后。