Rare and Complex Epilepsy Unit, Department of Neuroscience and Neurorehabilitation, Bambino Gesù Children Hospital, Rome, Italy.
European Reference Network EpiCARE, Rome, Italy.
Dev Med Child Neurol. 2020 Aug;62(8):897-905. doi: 10.1111/dmcn.14553. Epub 2020 May 5.
New-onset refractory status epilepticus (NORSE) and febrile infection-related epilepsy syndrome (FIRES) are relatively rare clinical presentations. They are characterized by de novo onset of refractory status epilepticus (RSE) without clearly identifiable acute or active cause (structural, toxic, or metabolic). We reviewed the literature using PubMed reports published between 2003 and 2019 and summarized the clinical, neurophysiological, imaging, and treatment findings. Focal motor seizures, which tend to evolve into status epilepticus, characterize the typical presentation. Disease course is biphasic: acute phase followed by chronic phase with refractory epilepsy and neurological impairment. Aetiology is unknown, but immune-inflammatory-mediated epileptic encephalopathy is suspected. Electroencephalograms show variety in discharges (sporadic or periodic, focal, generalized, or more frequently bilateral), sometimes with a multifocal pattern. About 70% of adult NORSE have abnormal magnetic resonance imaging (MRI); in paediatric series of FIRES, 61.2% of patients have a normal brain MRI at the beginning and only 18.5% during the chronic phase. No specific therapy for FIRES and NORSE currently exists; high doses of barbiturates and ketogenic diet can be used with some effectiveness. Recently, anakinra and tocilizumab, targeting interleukin pathways, have emerged as potential specific therapies. Mortality rate is around 12% in children and even higher in adults (16-27%).
新起难治性癫痫持续状态（NORSE）和热性感染相关癫痫综合征（FIRES）是相对罕见的临床表现。它们的特征是新起的难治性癫痫持续状态（RSE），没有明确的急性或活动性原因（结构、毒性或代谢性）。我们使用 2003 年至 2019 年期间发表的 PubMed 报告进行了文献复习，并总结了临床、神经生理学、影像学和治疗发现。局灶性运动性发作，往往会发展为癫痫持续状态，是其典型表现。病程呈双相性：急性期后是难治性癫痫和神经功能障碍的慢性期。病因不明，但怀疑是免疫炎症介导的癫痫性脑病。脑电图显示放电的多样性（散发性或周期性、局灶性、全身性或更常见的双侧性），有时呈多灶性模式。约 70%的成人 NORSE 有异常的磁共振成像（MRI）；在儿童 FIRES 系列中，61.2%的患者在开始时脑 MRI 正常，只有 18.5%在慢性期正常。目前没有针对 FIRES 和 NORSE 的特定治疗方法；可以使用大剂量巴比妥类药物和生酮饮食，有一定效果。最近，针对白细胞介素途径的 anakinra 和 tocilizumab 已成为潜在的特定治疗方法。儿童的死亡率约为 12%，成人甚至更高（16-27%）。
