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New‐onset refractory status epilepticus and febrile infection‐related epilepsy syndrome
Author(s) -
Specchio Nicola,
Pietrafusa Nicola
Publication year - 2020
Publication title -
developmental medicine and child neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.658
H-Index - 143
eISSN - 1469-8749
pISSN - 0012-1622
DOI - 10.1111/dmcn.14553
Subject(s) - status epilepticus , medicine , pediatrics , epilepsy , etiology , refractory (planetary science) , epilepsy syndromes , differential diagnosis , intensive care medicine , pathology , psychiatry , physics , astrobiology
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%). What this paper adds Diagnosis for febrile infection‐related epilepsy syndrome (FIRES) requires prior febrile infection. FIRES is considered a subcategory of new‐onset refractory status epilepticus (NORSE). Clinical features, differential diagnosis, and pathophysiologic hypothesis are reviewed.