在热源相关性癫痫综合症（FIRES）中，免疫治疗前的细胞因子分析越来越普遍。在这种情况下，一名18岁男孩在一次非特异性发热疾病后首次发作癫痫。他发展为超级难治性状态癫痫，需要多种抗癫痫药物和全身麻醉药物输注治疗。他接受了脉冲甲基强的松龙、血浆置换和生酮饮食治疗。增强MRI脑部检查显示有后癫痫状态的变化。脑电图显示多灶性癫痫放电和广泛周期性癫痫样失调。脑脊液分析、自身抗体测试和恶性肿瘤筛查均正常。遗传测试发现CNKSR2和OPN1LW基因存在不确定意义的变异（VUS）。初步血清和脑脊液细胞因子分析在第6天和第21天进行，结果显示IL-6、IL-1RA、MCP1、MIP1β和IFNγ主要在中枢神经系统中升高，这是细胞因子释放综合征的特征。在入院第30天进行了托法替尼试验，但没有临床改善，IL-6继续上升。在第51天给予托珠单抗，出现明显的临床和电生理反应。随后在第99到103天尝试了阿那曲酰，因癫痫发作再次出现，麻醉药物断续期间反应不良而停止使用。连续的细胞因子分析结果显示，在给予7剂托珠单抗后有所改善。相应地，癫痫控制也有所改善。这个案例说明在FIRES的情况下，个性化的免疫监测可能是有帮助的，因为炎症性细胞因子被推测在癫痫发生中起作用。在FIRES的治疗中，细胞因子分析和与免疫学家的密切合作正在发挥越来越重要的作用。对于IL-6上调的FIRES患者可以考虑使用托珠单抗。 ©2023美国神经病学学会。

Cytokine profiling prior to immunotherapy is increasingly prevalent in Febrile infection-related epilepsy syndrome (FIRES). In this case, an 18-year-old boy presented with first-onset seizure after a nonspecific febrile illness. He developed super refractory status epilepticus requiring multiple anti-seizure medications and general anesthetic infusions. He was treated with pulsed methylprednisolone, plasma exchange and ketogenic diet. Contrast-enhanced MRI brain revealed post-ictal changes. EEG showed multifocal ictal runs and generalized periodic epileptiform discharges. Cerebrospinal fluid analysis, autoantibody testing and malignancy screen were unremarkable. Genetic testing revealed variants of uncertain significance (VUS) in the CNKSR2 and OPN1LW genes.Initial serum and CSF cytokine analyses performed on days 6 and 21 revealed that IL-6, IL-1RA, MCP1, MIP1β and IFNγ were elevated predominantly in the CNS, a profile consistent with cytokine release syndrome. Tofacitinib was initially trialed on day 30 of admission. There was no clinical improvement and IL-6 continued to rise. Tocilizumab was given on day 51 with significant clinical and electrographic response. Anakinra was subsequently trialed from days 99 to 103, as clinical ictal activity re-emerged on weaning anesthetics, but stopped due to poor response.Serial cytokine profiles showed improvement after 7 doses of tocilizumab. There was corresponding improved seizure control.This case illustrates how personalized immunomonitoring may be helpful in cases of FIRES, where proinflammatory cytokines are postulated to act in epileptogenesis. There is an emerging role for cytokine profiling and close collaboration with immunologists for the treatment of FIRES. The use of tocilizumab may be considered in FIRES patients with upregulated IL-6.© 2023 American Academy of Neurology.