{"orpha":163703,"name":"Febrile infection-related epilepsy syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["DESC syndrome","Devastating epileptic encephalopathy in school-aged children","FIRES","Fever-induced refractory epileptic encephalopathy in school-aged children","AERRPS","Acute encephalitis with refractory repetitive partial seizures","Acute non-herpetic encephalitis with severe refractory status epilepticus"],"definition":"A rare, potentially fatal , epileptic encephalopathy characterized by explosive-onset of recurrent multifocal and bilateral tonic-clonic seizures following an unspecific febrile illness. The syndrome develops without a clear acute structural, toxic or metabolic cause, in a patient without previous epilepsy. FIRES is a subgroup of new-onset refractory status epilepticus (NORSE), and requires a preceding febrile infection as a mandatory feature.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-163703/","orphanet_url":"https://www.orpha.net/en/disease/detail/163703","names":{"fr":{"name":"Syndrome épileptique par infection fébrile","synonyms":["AERRPS","Encéphalite aiguë avec épilepsie partielle répétitive réfractaire","Encéphalite non herpétique aigüe avec épilepsie réfractaire sévère","Encéphalopathie épileptique dévastatrice des enfants d'âge scolaire","FIRES","Syndrome DESC"],"definition":"Encéphalopathie épileptique rare, potentiellement létale, caractérisée par l'apparition brutale de crises récurrentes tonico-cloniques multifocales et bilatérales à la suite d'une maladie fébrile non spécifique. Le syndrome se développe sans cause structurelle, toxique ou métabolique aiguë apparente chez un patient sans antécédents d'épilepsie. Le FIRES (FIRES pour Febrile infection-related epilepsy syndrome) est un sous-groupe de l'état d'épilepsie réfractaire d'apparition récente (NORSE), qui doit obligatoirement être précédé d'une infection fébrile."},"de":{"name":"Fieber-assoziierte Enzephalopathie mit refraktären Anfällen","synonyms":["AERRPS","Akute Enzephalitis mit refraktären, repetitiven Partialanfällen","DESC-Syndrom","Enzephalopathie, epileptische idiopathische katastrophale","FIRES","Fieber-induzierte refraktäre epileptische Enzephalopathie von Schulkindern","Verheerende epileptische Enzephalopathie von Kindern im Schulalter"],"definition":"Eine potenziell tödliche epileptische Enzephalopathie, die durch explosionsartig auftretende, wiederkehrende multifokale und bilaterale tonisch-klonische Anfälle nach einer unspezifischen fiebrigen Erkrankung gekennzeichnet ist. Das Syndrom entwickelt sich ohne eine eindeutige akute strukturelle, toxische oder metabolische Ursache bei Patienten ohne vorherige Epilepsie. FIRES ist eine Untergruppe des neu auftretenden refraktären Status epilepticus (NORSE) und setzt als zwingendes Merkmal eine vorangegangene fieberhafte Infektion voraus."},"es":{"name":"Síndrome epiléptico asociado a infección febril","synonyms":["AERRPS","Encefalitis aguda con crisis parciales recurrentes refractarias","Encefalitis no herpética aguda con estado epiléptico refractario grave","Encefalopatía epiléptica catastrófica en niños en edad escolar","Encefalopatía epiléptica refractaria inducida por fiebre en niños en edad escolar","FIRES","Síndrome DESC"],"definition":"Es una encefalopatía epiléptica poco frecuente, potencialmente mortal, caracterizada por la aparición explosiva de crisis tónico-clónicas recurrentes, multifocales y bilaterales, desencadenadas por una enfermedad febril inespecífica. El síndrome se desarrolla sin una causa estructural, tóxica o metabólica aguda clara, en un paciente sin epilepsia previa. El FIRES es un subgrupo del estado epiléptico refractario de nueva aparición (NORSE), y requiere de una infección febril precedente como característica obligada."},"it":{"name":"Sindrome epilettica da infezione febbrile","synonyms":["AERRPS","Encefalite acuta con convulsioni parziali ripetitive refrattarie","Encefalite non erpetica acuta con grave stato epilettico refrattario","Encefalopatia epilettica devastante nei bambini in età scolare","Encefalopatia epilettica refrattaria indotta dalla febbre nei bambini in età scolare","FIRES","Sindrome DESC"],"definition":"La sindrome epilettica da infezione febbrile (FIRES) è un'encefalopatia epilettica rara, potenzialmente letale, ad esordio ''esplosivo'', che si manifesta con crisi tonico-cloniche ricorrenti multifocali e bilaterali a seguito di una malattia febbrile aspecifica. La sindrome insorge in assenza di un'evidente causa strutturale, tossica o metabolica acuta, in un paziente che non ha mai sofferto di epilessia. La FIRES rappresenta un sottogruppo dello stato epilettico refrattario di nuova insorgenza (NORSE), e viene sempre preceduto da un'infezione febbrile."},"nl":{"name":"Febriele-infectiegerelateerd epilepsiesyndroom","synonyms":["AERRPS","Acute encefalitis met refractaire repetitieve partiële epileptische aanvallen","Acute niet-herpetische encefalitis met ernstige refractaire status epilepticus","DESC-syndroom","FIRES","Invaliderende epileptische encefalopathie bij kinderen van schoolleeftijd","Koortsgeïnduceerde refractaire epileptische encefalopathie bij kinderen van schoolleeftijd"],"definition":"Een zeldzame, potentieel fatale, epileptische encefalopathie, gekenmerkt door explosieve aanvang van recidiverende multifocale en bilaterale tonisch-clonische insulten volgend op een aspecifieke febriele ziekte. Het syndroom ontwikkelt zonder duidelijke acute structurele, toxische of metabole oorzaak, bij patiënten zonder eerdere epilepsie. FIRES is een subgroep van nieuw begonnen refractaire status epilepticus (NORSE), en vereist een voorafgaande febriele infectie als kenmerk."},"pt":{"name":"Síndrome epilético relacionado com infeção febril","synonyms":["Síndrome DESC"]},"pl":{"name":"Zespół padaczkowy związany z infekcją gorączkową","synonyms":["AERRPS","Ciężki stan padaczkowy z powodu przypuszczalnego zapalenia mózgu","FIRES","Idiopatyczna katastrofalna encefalopatia padaczkowa","Oporna encefalopatia padaczkowa indukowana gorączką u dzieci w wieku szkolnym","Ostre nieopryszczkowe zapalenie mózgu z ciężkim opornym stanem padaczkowym","Ostre zapalenie mózgu z opornymi powtarzającymi się napadami częściowymi","Wyniszczająca encefalopatia padaczkowa u dzieci w wieku szkolnym","Zespół DESC"]},"cs":{"name":"Epileptický syndrom vázaný na horečnatou infekci","synonyms":["AERRPS","Akutní encefalitida s refrakterními repetitivními parciálními záchvaty","DESC syndrom","FIRES","Idiopatická katastrofická epileptická encefalopatie","Akutní neherpetická encefalitida s těžkým refrakterním status epilepticus","Devastující epileptická encefalopatie u dětí školního věku","Refrakterní epileptická encefalopatie u dětí školního věku vyvolaná horečkou","Těžký refraktorní status epilepticus v důsledku předpokládané encefalitidy"]},"uk":{"name":"Синдром епілепсіі,повязаний з фебрильною інфекцією","synonyms":["Гострий енцефаліт з рефрактерними повторюваними парціальними нападами","Гострий негерпетичний енцефаліт з тяжким рефрактерним епілептичним статусом","AERRPS","Синдром DESC","Руйнівна епілептична енцефалопатія у дітей шкільного віку","Індукована лихоманкою рефрактерна епілептична енцефалопатія у дітей шкільного віку","FIRES","Ідіопатична катастрофічна епілептична енцефалопатія","Тяжкий рефрактерний епілептичний статус внаслідок передбачуваного енцефаліту"],"definition":"A rare, potentially fatal , epileptic encephalopathy characterized by explosive-onset of recurrent multifocal and bilateral tonic-clonic seizures following an unspecific febrile illness. The syndrome develops without a clear acute structural, toxic or metabolic cause, in a patient without previous epilepsy. FIRES is a subgroup of new-onset refractory status epilepticus (NORSE), and requires a preceding febrile infection as a mandatory feature."},"zh":{"name":"感染发热相关癫痫综合征","synonyms":["学龄儿童热性难治性癫痫脑病"],"definition":"发热性感染相关癫痫综合征(FIRES)是一种爆发性、潜在致命性急性癫痫性脑病，在非特异性发热性疾病发生后，出现在过去健康的儿童和青少年中。"},"tr":{"name":"Febril enfeksiyonu -ilişkili epilepsi sendromu","synonyms":["FIRES","AERRPS","DESC sendromu","İdiyopatik katastrofik epileptik ensefalopati","Okul çağındaki çocuklarda yıkıcı epileptik ensefalopati","Refrakter tekrarlayan kısmi nöbetler ile seyreden akut ensefalit","Ensefalit olduğu düşünülen ağır refrakter status epileptikus","Ağır refrakter durum epileptikus ile seyreden akut herpetik olmayan ensefalit","Okul çağındaki çocuklarda ateşe bağlı dirençli epileptik ensefalopati"]}},"xrefs":[{"source":"ICD-10","code":"G40.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A63.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1316435973"},{"source":"MONDO","code":"0015584","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4049262","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"11005","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10079438","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":363567,"name":"Acute encephalopathy with inflammation-mediated status epilepticus","classifications":[181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1,"area":"Germany","status":"Validated","source":"22911482[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Germany","status":"Validated","source":"28898171[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007359","label":"Focal-onset seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012735","label":"Cough","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000246","label":"Sinusitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001699","label":"Sudden death","frequency":"Occasional (29-5%)","criteria":null}]}}