Yeni-Başlangıçlı Dirençli Status Epileptikus (New-Onset Refractory Status Epilepticus-NORSE)
Özet
Status epileptikus, yüksek morbidite ve mortalite riski taşıyan acil bir nörolojik durum olup standart tedavilere dirençli olması durumunda RSE ve SRSE olarak sınıflandırılır. Yeni başlangıçlı refrakter status epileptikus (NORSE), bilinen epilepsisi veya net bir nedeni olmayan hastalarda ortaya çıkan, genellikle otoimmün veya genetik kökenli, tanısı ve tedavisi oldukça zorlu bir klinik tablodur. Hastaların tedavisinde çoklu antiepileptik ilaçlar, anestetikler ve immünomodülasyon yöntemleri kullanılsa da, prognoz genellikle kötüdür ve çoğu vakada kalıcı nörolojik sekeller gelişmektedir.
Status epilepticus is a critical neurological emergency associated with high morbidity and mortality, which is further classified as refractory (RSE) or super-refractory (SRSE) when standard treatments fail. New-Onset Refractory Status Epilepticus (NORSE) represents a distinct clinical entity in patients without prior epilepsy or identifiable causes, often involving complex autoimmune, infectious, or genetic mechanisms. Treatment requires aggressive intervention with multiple antiepileptics, anesthetics, and immunotherapy, yet the prognosis remains poor with high rates of persistent neurological sequelae in survivors.
Referanslar
Chin RF, Neville BG, Peckham C, Bedford H, Wade A, Scott RC; NLSTEPSS Collaborative Group. Incidence, cause, and short-term outcome of convulsive status epilepticus in childhood: prospective population-based study. Lancet. 2006;15;368(9531):222-9.
Trinka E., Cock H., Hesdorffer D., et al. A definition and classification of status epilepticus—Report of the ilae task force on classification of status epilepticus. Epilepsia. 2015; 56: 1515–1523
Smith DM, McGinnis EL, Walleigh DJ, Abend NS. Management of Status Epilepticus in Children. J Clin Med. 2016;13;5(4):47
Gofton TE, Gaspard N, Hocker SE, Loddenkemper T, Hirsch LJ. New onset refractory status epilepticus research: What is on the horizon? Neurology. 2019;23;92(17):802-810.
Wilder-Smith EP, Lim EC, Teoh HL, Sharma VK, Tan JJ, Chan BP, Ong BK. The NORSE (new-onset refractory status epilepticus) syndrome: defining a disease entity. Ann Acad Med Singap. 2005;34(7):417-20
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.
Khawaja AM, DeWolfe JL, Miller DW, Szaflarski JP. New-onset refractory status epilepticus (NORSE)–The potential role for immunotherapy. Epilepsy Behav EB 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.
Iizuka T, Kanazawa N, Kaneko J, et al. Cryptogenic NORSE: Its distinctive clinical features and response to immunotherapy. Neurol Neuroimmunol Neuroinflamm. 2017;25;4(6):e396.
Sculier C, Gaspard N. New onset refractory status epilepticus (NORSE). Seizure. 2019 May;68: 72-78.
Gaspard N, Hirsch LJ, Sculier C, e al. New-onset refractory status epilepticus (NORSE) and febrile infection-related epilepsy syndrome (FIRES): State of the art and perspectives. Epilepsia. 2018 ;59(4):745-752.
Specchio N, Pietrafusa N. New-onset refractory status epilepticus and febrile infection-related epilepsy syndrome. Dev Med Child Neurol. 2020 ;62(8):897-905.
Specchio N, Fusco L, Claps D, Vigevano F. Epileptic encephalopathy in children possibly related to immune-mediated pathogenesis. Brain Dev 2010;32: 51–6.
Illingworth MA, Hanrahan D, Anderson CE, et al. Elevated VGKC-complex antibodies in a boy with fever-induced refractory epileptic encephalopathy in school-age children (FIRES). Dev Med Child Neurol 2011;53: 1053–7.
Milh M, Villeneuve N, Chapon F, et al. New onset refractory convulsive status epilepticus associated with serum neuropil auto-antibodies in a school aged child. Brain Dev 2011;33: 687–91.
Armangue T, Petit-Pedrol M, Dalmau J. Autoimmune encephalitis in children. J Child Neurol 2012;27: 1460–9.
Dalmau J, Gleichman AJ, Hughes EG, et al. Anti-NMDAreceptor encephalitis: case series and analysis of the effects of antibodies. Lancet Neurol 2008;7: 1091–8.
Suleiman J, Brenner T, Gill D, et al. VGKC antibodies in pediatric encephalitis presenting with status epilepticus. Neurology 2011;76: 1252–5.
Gaspard N, Hirsch LJ. New-Onset Refractory Status Epilepticus (NORSE) and Febrile Infection-Related Epilepsy Syndrome (FIRES). National Organization for Rare Disorders (NORD). 2020; https://rarediseases.org/rare-diseases/new-onset-refractory-status-epilepticus-norse/.
Körtvelyessy P, Lerche H, Weber Y. FIRES and NORSE are distinct entities. Epilepsia. 2012;53: 1276
Howell KB, Katanyuwong K, Mackay MT, et al. Longterm 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
Saitoh M, Kobayashi K, Ohmori I, et al. Cytokinerelated and sodium channel polymorphism as candidate predisposing factors for childhood encephalopathy FIRES/AERRPS. J Neurol Sci 2016;368:272–6.
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.
Kramer U, Chi CS, Lin KL, et al. Febrile infectionrelated epilepsy syndrome (FIRES): pathogenesis, treatment, and outcome: a multicenter study on 77 children. Epilepsia 2011;52: 1956–65.
Mikaeloff Y, Jambaqué I, Hertz-Pannier L, et al. Devastating epileptic encephalopathy in school-aged children (DESC): a pseudo encephalitis. Epilepsy Res 2006;69: 67–79.
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.
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.
Gaspard N. Unusual causes of status epilepticus. Status epilepticus. Springer, Cham; 2018: 87–110
Thakur KT, Probasco JC, Hocker SE, et al. Ketogenic diet for adults in super-refractory status epilepticus. Neurology 2014;25;82(8):665–70
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.
Jun JS, Lee ST, Kim R, Chu K, Lee SK. Tocilizumab treatment for new onset refractory status epilepticus. Ann Neurol. 2018;84(6): 940-945.
Cantarin-Extremera V, Jimenez-Legido M, Duat-Rodriguez A, et al. Tocilizumab in pediatric refractory status epilepticus and acute epilepsy: experience in two patients. J Neuroimmunol. 2020;340:577142.
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.
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.
Chan EL, Lee WC, Koo CK, King HS, Woo CT, Ng SH. Electroconvulsive therapy for new-onset super-refractory status epilepticus. Hong Kong Med J. 2018 Jun;24(3):307-310.
Nabbout R, Mazzuca M, Hubert P, et al. Efficacy of ketogenic diet in severe refractory status epilepticus initiating fever induced refractory epileptic encephalopathy in school age children (FIRES). Epilepsia 2010;51: 2033–7.
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.
