New-onset refractory status epilepticus and febrile infection-related epilepsy syndrome.
Journal
Developmental medicine and child neurology
ISSN: 1469-8749
Titre abrégé: Dev Med Child Neurol
Pays: England
ID NLM: 0006761
Informations de publication
Date de publication:
08 2020
08 2020
Historique:
accepted:
19
03
2020
pubmed:
7
5
2020
medline:
15
12
2020
entrez:
7
5
2020
Statut:
ppublish
Résumé
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%).
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
897-905Informations de copyright
© 2020 Mac Keith Press.
Références
Hirsch LJ, Gaspard N, van Baalen A, et al. Proposed consensus definitions for new-onset refractory status epilepticus (NORSE), febrile infection-related epilepsy syndrome (FIRES), and related conditions. Epilepsia 2018; 59: 739-44.
Gaspard N, Hirsch LJ, Sculier C, et al. New-onset refractory status epilepticus (NORSE) and febrile infection-related epilepsy syndrome (FIRES): state of the art and perspectives. Epilepsia 2018; 59: 745-52.
Ismail FY, Kossoff EH. AERRPS, DESC, NORSE, FIRES: multi-labeling or distinct epileptic entities? Epilepsia 2011; 52: 185-9.
Nabbout R, Vezzani A, Dulac O, Chiron C. Acute encephalopathy with inflammation-mediated status epilepticus. Lancet Neurol 2011; 10: 99-108.
Körtvelyessy P, Lerche H, Weber Y. FIRES and NORSE are distinct entities. Epilepsia 2012; 53: 1276.
Kanemura H, Sano F, Mizorogi S, Aoyagi K, Sugita K, Aihara M. Duration of recognized fever in febrile seizure predicts later development of epilepsy. Pediatr Int 2012; 54: 520-3.
Li J, Saldivar C, Maganti RK. Plasma exchange in cryptogenic new onset refractory status epilepticus. Seizure 2013; 22: 70-3.
Iizuka T, Kanazawa N, Kaneko J, et al. Cryptogenic NORSE: its distinctive clinical features and response to immunotherapy. Neurol Neuroimmunol Neuroinflamm 2017; 4: e396.
Shrivastava M, Chouhan S, Navaid S. Plasma exchange as a therapeutic modality in a rare case of cryptogenic new onset refrac- tory status epilepticus (NORSE). J Clin Diagn Res 2017; 11: ED33-4.
Costello DJ, Kilbride RD, Cole AJ. cryptogenic new onset refractory status epilepticus (NORSE) in adults - infectious or not? J Neurol Sci 2009; 277: 26-31.
Lyon G, Dodge PR, Adams RD. The acute encephalopathies of obscure origin in infants and children. Brain 1961; 84: 680-708.
Awaya Y, Fukuyama Y. Epilepsy sequelae of acute encephalitis or encephalopathy (3rd report). Jpn J Psychiatry Neurol 1986; 40: 385-7.
Wilder-Smith EP, Lim EC, Teoh HL, et al. The NORSE (new-onset refractory status epilepticus) syndrome: defining a disease entity. Ann Acad Med Singapore 2005; 34: 417-20.
Van Lierde I, Van Paesschen W, Dupont P, Maes A, Sciot R. De novo cryptogenic refractory multifocal febrile status epilepticus in the young adult: a review of six cases. Acta Neurol Belg 2003; 103: 88-94.
Baxter P, Clarke A, Cross H, et al. Idiopathic catastrophic epileptic encephalopathy presenting with acute onset intractable status. Seizure 2003; 12: 379-87.
van Baalen A, Häusler M, Boor R, et al. Febrile infection- related epilepsy syndrome (FIRES): a nonencephalitic encephalopathy in childhood. Epilepsia 2010; 51: 1323-8.
Mikaeloff Y, Jambaqué I, Hertz-Pannier L, et al. Devastating epileptic encephalopathy in school-aged children (DESC): a pseudo encephalitis. Epilepsy Res 2006; 69: 67-9.
Sakuma H, Awaya Y, Shiomi M, et al. Acute encephalitis with refractory, repetitive partial seizures (AERRPS): a peculiar form of childhood encephalitis. Acta Neurol Scand 2010; 121: 251-6.
Nabbout R, Mazzuca M, Hubert P, et al. Efficacy of KD in severe refractory status epilepticus initiating fever induced refractory epileptic encephalopathy in school age children (FIRES). Epilepsia 2010; 51: 2033-7.
Kramer U, Chi CS, Lin KL, et al. Febrile infection-related epilepsy syndrome (FIRES): pathogenesis, treatment, and outcome: a multicenter study on 77 children. Epilepsia 2011; 52: 1956-65.
Khawaja AM, Dewolfe JM, Miller DM, Szaflarski JP. New onset refractory status epilepticus (NORSE): the potential role for immunotherapy. Epilepsy Behav 2015; 47: 17-23.
Gaspard N, Foreman BP, Alvarez V, et al. New-onset refractory status epilepticus: etiology, clinical features, and outcome. Neurology 2015; 85: 1604-13.
van Baalen A, Vezzani A, Häusler M, Kluger G. Febrile infection-related epilepsy syndrome: clinical review and hypotheses of epileptogenesis. Neuropediatrics 2017; 48: 5-18.
Nabbout R. FIRES and IHHE: delineation of the syndromes. Epilepsia 2013; 54(Suppl. 6): 54-6.
Howell KB, Katanyuwong K, Mackay MT, et al. Long-term follow-up of febrile infection-related epilepsy syndrome. Epilepsia 2012; 53: 101-10.
Specchio N, Fusco L, Claps D, et al. Childhood refractory focal epilepsy following acute febrile encephalopathy. Eur J Neurol 2011; 18: 952-61.
Dalmau J, Tüzün E, Wu HY, et al. Paraneoplastic anti-N-methyl-D-aspartate receptor encephalitis associated with ovarian teratoma. Ann Neurol 2007; 61: 25-36.
Suleiman J, Brenner T, Gill D, et al. VGKC antibodies in pediatric encephalitis presenting with status epilepticus. Neurology 2011; 76: 1252-5.
Yeo T, Chen Z, Yong KP, Wong PYW, Chai JYH, Tan K. Distinction between anti-VGKC-complex seropositive patients with and without anti-LGI1/CASPR2 antibodies. J Neurol Sci 2018; 391: 64-71.
Spatola M, Petit-Pedrol M, Simabukuro MM, Armangue T, Castro FJ, Barcelo Artigues MI. Investigations in GABA Areceptor antibody-associated encephalitis. Neurology 2017; 88: 1012-20.
Rahman S. Mitochondrial diseases and status epilepticus. Epilepsia 2018; 59(Suppl. 2): 70-7.
Husari KS, Labiner K, Huang R, Said RR. New-onset refractory status epilepticus in children: etiologies, treatments, and outcomes. Pediatr Crit Care Med 2020; 21: 59-66.
Sakuma H, Tanuma N, Kuki I, Takahashi Y, Shiomi M, Hayashi M. Intrathecal overproduction of proinflammatory cytokines and chemokines in febrile infection-related refractory status epilepticus. J Neurol Neurosurg Psychiatry 2015; 86: 820-2.
Miskin C, Hasbani DM. Status epilepticus: immunologic and inflammatory mechanisms. Semin Pediatr Neurol 2014; 21: 221-5.
Varadkar S, Cross JH. Rasmussen syndrome and other inflammatory epilepsies. Semin Neurol 2015; 35: 259-68.
Sakuma H, Tanuma N, Kuki I, Takahashi Y, Shiomi M, Hayashi M. Cytokine-related and sodium channel polymorphism as candidate predisposing factors for childhood encephalopathy FIRES/AERRPS. J Neurol Sci 2016; 368: 272-6.
Gotkine M, Kennedy PGE, Steiner I. Post infectious CNS disorders: towards a unified approach. J Neurol 2010; 257: 1963-9.
Kothur K, Bandodkar S, Wienholt L, et al. Etiology is the key determinant of neuroinflammation in epilepsy: elevation of cerebrospinal fluid cytokines and chemokines in febrile infection-related epilepsy syndrome and febrile status epilepticus. Epilepsia 2019; 60: 1678-88.
Clarkson BDS, LaFrance-Corey RG, Kahoud RJ, Farias-Moeller R, Payne ET, Howe CL. Functional deficiency in endogenous interleukin-1 receptor antagonist in patients with febrile infection-related epilepsy syndrome. Ann Neurol 2019; 85: 526-37.
Gall CR, Jumma O, Mohanraj R. Five cases of new onset refractory status epilepticus (NORSE) syndrome: outcomes with early immunotherapy. Seizure 2013; 22: 217-20.
Caputo D, Iorio R, Vigevano F, Fusco L. Febrile infection-related epilepsy syndrome (FIRES) with super-refractory status epilepticus revealing autoimmune encephalitis due to GABAAR antibodies. Eur J Paediatr Neurol 2018; 22: 182-5.
Appenzeller S, Helbig I, Stephani U, et al. Febrile infection-related epilepsy syndrome (FIRES) is not caused by SCN1A, POLG, PCDH19 mutations or rare copy number variations. Dev Med Child Neurol 2012; 54: 1144-8.
Carranza Rojo D, Hamiwka L, McMahon JM, et al. De novo SCN1A mutation in migrating partial seizures of infancy. Neurology 2011; 77: 380-3.
Farias-Moeller R, Bartolini L, Staso K, Schreiber JM, Carpenter JL. Early ictal and interictal patterns in FIRES: the sparks before the blaze. Epilepsia 2017; 58: 1340-8.
Caraballo RH, Reyes G, Avaria MFL, et al. Febrile infection-related epilepsy syndrome: a study of 12 patients. Seizure 2013; 22: 553-9.
Kramer U, Shorer Z, Ben-Zeev B, Lerman-Sagie T, Goldberg-Stern H, Lahat E. Severe refractory status epilepticus owing to presumed encephalitis. J Child Neurol 2005; 20: 184-7.
Meletti S, Slonkova J, Mareckova I, et al. Claustrum damage and refractory status epilepticus following febrile illness. Neurology 2015; 85: 1224-32.
Meletti S, Giovannini G, d’Orsi G, et al. A new-onset refractory status epilepticus with claustrum damage: definition of the clinical and neuroimaging features. Front Neurol 2017; 8: 111.
Culleton S, Talenti G, Kaliakatsos M, Pujar S, D’Arco F. The spectrum of neuroimaging findings in febrile infection related epilepsy syndrome (FIRES): a literature review. Epilepsia 2019; 60: 585-92.
Rivas-Coppola MS, Shah N, Choudhri AF, Morgan R, Wheless JW. Chronological evolution of magnetic resonance imaging findings in children with febrile infection-related epilepsy syndrome. Pediatr Neurol 2016; 55: 22-9.
Mazzuca M, Jambaque I, Hertz-Pannier L, et al. 18F-FDG PET reveals frontotemporal dysfunction in children with fever-induced refractory epileptic encephalopathy. J Nucl Med 2011; 52: 40-7.
van Baalen A, Vezzani A, Häusler M, Kluger G. Febrile infection - related epilepsy syndrome: clinical review and hypotheses of epileptogenesis. Neuropediatrics 2017; 48: 5-18.
Rossetti AO, Milligan TA, Vulliémoz S, Michaelides C, Bertschi M, Lee JW. A randomized trial for the treatment of refractory status epilepticus. Neurocrit Care 2011; 14: 4-10.
Bellante F, Legros B, Depondt C, Créteur J, Taccone FS, Gaspard N. Midazolam and thiopental for the treatment of refractory status epilepticus: a retrospective comparison of efficacy and safety. J Neurol 2016; 263: 799-806.
Shorvon S, Ferlisi M. The treatment of super-refractory status epilepticus: a critical review of available therapies and a clinical treatment protocol. Brain 2011; 134: 2802-18.
Dan B, Boyd SG. Stimulus-sensitive burst-spiking in burst-suppression in children: implications for management of refractory status epilepticus. Epileptic Disord 2006; 8: 143-50.
Villeneuve N, Pinton F, Bahi-Buisson N, Dulac O, Chiron C, Nabbout R. The ketogenic diet improves recently worsened focal epilepsy. Dev Med Child Neurol 2009; 51: 276-81.
Lee HF, Chi CS. Febrile infection-related epilepsy syndrome (FIRES): therapeutic complications, long-term neurological and neuroimaging follow-up. Seizure 2018; 56: 53-9.
Dupuis N, Curatolo N, Benoist JF, Auvin S. Ketogenic diet exhibits anti-inflammatory properties. Epilepsia 2015; 56: 95-8.
Gofshteyn JS, Wilfong A, Devinsky O, et al. Cannabidiol as a potential treatment for febrile infection-related epilepsy syndrome (FIRES) in the acute and chronic phases. J Child Neurol 2017; 32: 35-40.
Kenney-Jung DL, Vezzani A, Kahoud RJ, et al. Febrile infection-related epilepsy syndrome treated with anakinra. Ann Neurol 2016; 80: 939-45.
Westbrook C, Subramaniam T, Seagren RM, et al. Febrile infection-related epilepsy syndrome treated successfully with anakinra in a 21-year-old woman. WMJ 2019; 118: 135-9.
Sa M, Singh R, Pujar S, et al. Centromedian thalamic nuclei deep brain stimulation and Anakinra treatment for FIRES - two different outcomes. Eur J Paediatr Neurol 2019; 23: 749-54.
Dilena R, Mauri E, Aronica E, Bernasconi P, Bana C, Cappelletti C. Therapeutic effect of Anakinra in the relapsing chronic phase of febrile infection-related epilepsy syndrome. Epilepsia Open 2019; 4: 344-50.
Jun JS, Lee ST, Kim R, Chu K, Lee SK. Tocilizumab treatment for new onset refractory status epilepticus. Ann Neurol 2018; 84: 940-5.
Zeiler FA, Zeiler KJ, Teitelbaum J, Gillman LM, West M. VNS for refractory status epilepticus. Epilepsy Res 2015; 112: 100-13.
Gedela S, Sitwat B, Welch WP, Krafty RT, Sogawa Y. The effect of vagus nerve stimulator in controlling status epilepticus in children. Seizure 2018; 55: 66-9.
Lin JJ, Lin KL, Hsia SH, Wang H-S; CHEESE Study Group. Therapeutic hypothermia for febrile infection-related epilepsy syndrome in two patients. Pediatr Neurol 2012; 47: 448-50.
Patil SB, Roy AG, Vinayan KP. Clinical profile and treatment outcome of febrile infection-related epilepsy syndrome in South Indian children. Ann Indian Acad Neurol 2016; 19: 188-94.