Serino Domenico, Santarone Marta Elena, Caputo Davide, Fusco Lucia
Department of Child Neurology, Royal Aberdeen Children's Hospital, Aberdeen, UK.
Department of Neuroscience, Bambino Gesù Children's Hospital, Rome, Italy.
Neuropsychiatr Dis Treat. 2019 Jul 9;15:1897-1903. doi: 10.2147/NDT.S177803. eCollection 2019.
Febrile infection-related epilepsy syndrome (FIRES) is a rare catastrophic epileptic encephalopathy with a yet undefined etiology, affecting healthy children. It is characterized by acute manifestation of recurrent seizures or refractory status epilepticus preceded by febrile illness, but without evidence of infectious encephalitis. To date, the absence of specific biomarkers poses a significant diagnostic challenge; nonetheless, early diagnosis is very important for optimal management. FIRES is mostly irreversible and its sequelae include drug-resistant epilepsy and neuropsychological impairments. The treatment of FIRES represents a significant challenge for clinicians and is associated with low success rates. Early introduction of ketogenic diet seems to represent the most effective and promising treatment. This review aims to highlight the most recent insights on clinical features, terminology, epidemiology, pathogenesis, diagnostic challenges and therapeutic options.
发热感染相关癫痫综合征（FIRES）是一种罕见的灾难性癫痫性脑病，病因尚不明确，主要影响健康儿童。其特征为在发热性疾病后出现反复癫痫发作或难治性癫痫持续状态的急性表现，但无感染性脑炎的证据。迄今为止，缺乏特异性生物标志物构成了重大的诊断挑战；尽管如此，早期诊断对于优化治疗非常重要。FIRES大多是不可逆的，其后遗症包括药物难治性癫痫和神经心理障碍。FIRES的治疗对临床医生来说是一项重大挑战，且成功率较低。早期引入生酮饮食似乎是最有效且最有前景的治疗方法。本综述旨在突出关于临床特征、术语、流行病学、发病机制、诊断挑战和治疗选择的最新见解。
