{"orpha":363558,"name":"New-onset refractory status epilepticus","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["NORSE"],"definition":"New-onset refractory status epilepticus is an acute encephalopathy with inflammation-mediated status epilepticus characterized by an acute refractory status epilepticus, typically of the tonic-clonic type, following prodromal symptoms of confusion, fever, fatigue, headache, symptoms of gastrointestinal or upper respiratory tract infection, behavioral changes or hallucinations. Brain MRI abnormalities and abnormal findings in CSF, including pleocytosis and/or elevated protein levels, are frequently found during acute episode. Treatment-resistant epilepsy, cognitive and psychiatric impairments are usual consequences.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-363558/","orphanet_url":"https://www.orpha.net/en/disease/detail/363558","names":{"fr":{"name":"Etat de mal épileptique réfractaire d'apparition tardive","synonyms":["NORSE","Etat de mal épileptique réfractaire de l'adulte lié à la fièvre"],"definition":"Encéphalopathie épileptique aiguë à médiation inflammatoire caractérisée par un état épileptique aigu réfractaire au traitement, généralement accompagné de crises tonico-cloniques, qui sont précédées de symptômes prodromiques : confusion, fièvre, fatigue, maux de tête, signes d'infection gastro-intestinale ou des voies respiratoires supérieures, troubles de comportement ou hallucinations. Des anomalies de l'IRM cérébrale et des résultats anormaux de l'analyse du LCR, notamment une pléiocytose et/ou des taux élevés de protéines, sont fréquemment observés au cours de l'épisode aigu. Les complications comprennent généralement une épilepsie réfractaire, des troubles cognitifs et des troubles psychiatriques."},"de":{"name":"Neu-beginnender refraktärer Status epilepticus","synonyms":["NORSE"]},"es":{"name":"Estatus epiléptico refractario de nueva aparición","synonyms":["NORSE"],"definition":"Es una encefalopatía aguda mediada por inflamación con estatus epiléptico. Se caracteriza por un estatus epiléptico refractario agudo, típicamente tónico-clónico, que sigue a los síntomas prodrómicos de confusión, fiebre, fatiga, cefalea, síntomas gastrointestinales o del tracto respiratorio superior, trastornos de conducta o alucinaciones. Durante el episodio agudo se encuentran, con cierta frecuencia, anomalías en la RM cerebral y en el LCR, que incluyen pleocitosis y/o niveles elevados de proteínas. Son consecuencias habituales epilepsia refractaria al tratamiento y trastornos cognitivos y psiquiátricos."},"it":{"name":"Stato epilettico refrattario di nuova insorgenza","synonyms":["NORSE"],"definition":"Lo stato epilettico refrattario di nuova insorgenza è un'encefalopatia acuta associata ad uno stato epilettico mediato da un'infiammazione; è caratterizzato da uno stato epilettico acuto refrattario, di solito di tipo tonico-clonico, che segue l'insorgenza di sintomi prodromici (confusione, febbre, affaticamento, cefalea), oppure sintomi secondari ad un'infezione gastrointestinale o delle vie aeree superiori, a cambiamenti del comportamento o allucinazioni. Spesso, durante gli episodi acuti, la RMN evidenzia anomalie cerebrali e si possono osservare anomalie nel liquido cerebrospinale, come la pleocitosi e/o livelli elevati di proteine. Sono conseguenze comuni l'epilessia resistente al trattamento e i deficit cognitivi e psichiatrici."},"nl":{"name":"Nieuw beginnende refractaire status epilepticus","synonyms":["NORSE"],"definition":"Nieuw beginnende refractaire status epilepticus is een acute encefalopathie met inflammatie-gemedieerde status epilepticus, en wordt gekarakteriseerd door een acute refractaire status epilepticus, doorgaans van het tonisch-clonische type, na prodromale symptomen zijnde verwardheid, koorts, vermoeidheid, hoofdpijn, symptomen van gastro-intestinale infectie of infectie van de bovenste luchtwegen, gedragsveranderingen of hallucinaties. Afwijkingen van de hersenen op MRI en abnormale bevindingen in CSF, waaronder pleocytose en/of verhoogde proteïnegehaltes, worden frequent aangetroffen tijdens de acute episode. Behandelingsresistente epilepsie, en cognitieve en psychiatrische stoornissen zijn gangbare gevolgen."},"pt":{"name":"Estado de mal epiléptico refratário de início precoce"},"pl":{"name":"Nawracający stan padaczkowy o nowym początku","synonyms":["NORSE"],"definition":"*Nawracający stan padaczkowy o nowym początku jest ostrą encefalopatią ze stanem padaczkowym, w którym pośredniczy stan zapalny. Charakteryzuje się ostrym, opornym na leczenie stanem padaczkowym, typowo z drgawkami toniczno-klonicznymi, które poprzedzają objawy prodromalne: splątanie, gorączka, zmęczenie, ból głowy, objawy zakażenia przewodu pokarmowego lub górnych dróg oddechowych, zmiany zachowania lub halucynacje. Podczas ostrego epizodu często stwierdza się nieprawidłowości w MRI mózgu i nieprawidłowe wyniki analizy płynu mózgowo-rdzeniowego, w tym pleocytozę i/lub podwyższony poziom białka. Powikłania zazwyczaj obejmują oporną na leczenie padaczkę, upośledzenie funkcji poznawczych i zaburzenia psychiczne."},"cs":{"name":"Nově vzniklý refrakterní status epilepticus","synonyms":["NORSE"]},"uk":{"name":"Рефрактерний епілептичний статус, що виник вперше","synonyms":["NORSE"],"definition":"New-onset refractory status epilepticus is an acute encephalopathy with inflammation-mediated status epilepticus characterized by an acute refractory status epilepticus, typically of the tonic-clonic type, following prodromal symptoms of confusion, fever, fatigue, headache, symptoms of gastrointestinal or upper respiratory tract infection, behavioral changes or hallucinations. Brain MRI abnormalities and abnormal findings in CSF, including pleocytosis and/or elevated protein levels, are frequently found during acute episode. Treatment-resistant epilepsy, cognitive and psychiatric impairments are usual consequences."},"zh":{"name":"新发性难治性癫痫持续状态","synonyms":["NORSE"],"definition":"新发难治性癫痫持续状态是一种以急性难治性癫痫持续状态为特征的急性脑病，以炎症介导的癫痫持续状态为特征，主要表现为强直-阵挛型，伴有神志不清、发热、乏力、头痛、胃肠道或上呼吸道感染症状、行为改变或幻觉等前驱症状。脑部MRI异常和脑脊液可有异常，表现为细胞增多症和/或蛋白水平升高，常见于急性发作期。难治性癫痫、认知和精神障碍是本病常见的后果。"},"tr":{"name":"Yeni başlayan refrakter status epileptikus","synonyms":["NORSE"]}},"xrefs":[{"source":"ICD-10","code":"G41.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018199","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749462","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12244","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10087465","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":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28396650[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-05-12","source":"30482654[PMID]_32372459[PMID]","terms":[{"hpo":"HP:0002133","label":"Status epilepticus","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0025373","label":"Interictal EEG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0032867","label":"Refractory status epilepticus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0032894","label":"Seizure precipitated by febrile infection","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011117","label":"Abnormal circulating interleukin concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002457","label":"Abnormal head movements","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007334","label":"Bilateral tonic-clonic seizure with focal onset","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410263","label":"Brain imaging abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012229","label":"CSF pleocytosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0033716","label":"EEG with frontal epileptiform discharges","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010845","label":"EEG with generalized slow activity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0033717","label":"EEG with temporal epileptiform discharges","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011468","label":"Facial tics","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007183","label":"Focal T2 hyperintense basal ganglia lesion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011154","label":"Focal autonomic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0020217","label":"Focal aware motor seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002384","label":"Focal impaired awareness seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004302","label":"Functional motor deficit","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002922","label":"Increased CSF protein concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012696","label":"Abnormal thalamic MRI signal intensity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030915","label":"Cerebellar edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001289","label":"Confusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011198","label":"EEG with generalized epileptiform discharges","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010850","label":"EEG with spike-wave complexes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002283","label":"Global brain atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002383","label":"Infectious encephalitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010841","label":"Multifocal epileptiform discharges","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032794","label":"Myoclonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031358","label":"Vegetative state","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012751","label":"Abnormal basal ganglia MRI signal intensity","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0031475","label":"Status epilepticus without prominent motor symptoms","frequency":"Very rare (<4-1%)","criteria":null}]}}