Stredny Coral M, Case Siobhan, Sansevere Arnold J, Son MaryBeth, Henderson Lauren, Gorman Mark P
Department of Neurology, Boston Children's Hospital, Neuroimmunology Program, Harvard Medical School, Boston, MA, USA.
Division of Epilepsy, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Child Neurol Open. 2020 Dec 15;7:2329048X20979253. doi: 10.1177/2329048X20979253. eCollection 2020 Jan-Dec.
Febrile infection-related epilepsy syndrome (FIRES) is characterized by new onset refractory status epilepticus in a previously healthy child that is associated with poor cognitive outcomes and chronic epilepsy. Innate immune system dysfunction is hypothesized to be a key etiologic contributor, with a potential role for immunotherapy blocking pro-inflammatory cytokines, such as interleukin-1β and interleukin-6. We present a case of FIRES refractory to anakinra, an interleukin-1 receptor antagonist, subsequently treated with the ketogenic diet and tocilizumab, an interleukin-6 receptor antagonist, temporally associated with seizure cessation and a favorable 1-year outcome.
发热感染相关癫痫综合征（FIRES）的特征是既往健康的儿童新发难治性癫痫持续状态，伴有认知预后不良和慢性癫痫。据推测，先天性免疫系统功能障碍是关键的病因，免疫疗法阻断促炎细胞因子（如白细胞介素-1β和白细胞介素-6）可能发挥作用。我们报告一例对白细胞介素-1受体拮抗剂阿那白滞素难治的FIRES病例，随后采用生酮饮食和白细胞介素-6受体拮抗剂托珠单抗治疗，在治疗期间癫痫发作停止，1年预后良好。
