{"orpha":263524,"name":"Acute necrotizing encephalopathy of childhood","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ANEC","Isolated ANE","Isolated acute necrotizing encephalopathy"],"definition":"A rare neurologic disease characterized by a rapid onset of seizures, an altered state of consciousness, neurologic decline, and variable degrees of hepatic dysfunction following a respiratory or gastrointesitnal infection (e.g. mycoplasma, influenza virus) in a previously healthy child. Brain MRI of patients reveals bilateral, multiple, symmetrical lesions predominantly observed in thalami and brainstem, but also in periventricular white matter and cerebellum in some cases.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-263524/","orphanet_url":"https://www.orpha.net/en/disease/detail/263524","names":{"fr":{"name":"Encéphalopathie nécrosante aiguë de l'enfant","synonyms":["ANE isolée","ANEC","Encéphalopathie nécrosante aiguë isolée"],"definition":"L'encéphalopathie nécrosante aigüe de l'enfant est une maladie neurologique rare caractérisée par des convulsions apparaissant rapidement, un état altéré de conscience, un déclin neurologique et divers degrés de dysfonction hépatique, survenant après une infection respiratoire ou gastro-intestinale (par ex. mycoplasme, virus de la grippe) chez un enfant autrement sain. L'imagerie par résonance magnétique (IRM) cérébrale des patients révèle de multiples lésions symétriques bilatérales, observées surtout au niveau du thalamus et du tronc cérébral, mais aussi, dans certains cas, au niveau de la substance blanche périventriculaire et du cervelet."},"de":{"name":"Enzephalopathie, nekrotisierende, akute, der Kindheit","synonyms":["ANE, isolierte","ANEC","Enzephalopathie, akute nekrotisierende, isolierte Form"],"definition":"Eine seltene neurologische Erkrankung, die durch früh einsetzendes Auftreten von Krampfanfällen, einen veränderten Bewusstseinszustand, eine neurologische Verschlechterung und einen unterschiedlichen Grad an hepatischer Dysfunktion nach einer respiratorischen oder gastrointesitnalen Infektion (z. B. Mykoplasmen, Influenzavirus) bei einem zuvor gesunden Kind gekennzeichnet ist. Die MRT des Gehirns der Patienten zeigt bilaterale, multiple, symmetrische Läsionen, die vorwiegend in den Thalamis und im Hirnstamm, in einigen Fällen aber auch in der periventrikulären weißen Substanz und im Kleinhirn beobachtet werden."},"es":{"name":"Encefalopatía necrotizante aguda de la infancia","synonyms":["ANE aislada","ANEC","ENA aislada","Encefalopatía necrotizante aguda aislada"],"definition":"Es una enfermedad neurológica poco frecuente caracterizada por un inicio rápido con crisis epilépticas, alteración del nivel de conciencia, deterioro neurológico y diferentes grados de disfunción hepática, después de una infección respiratoria o gastrointestinal (p. ej., micoplasma, virus de la gripe) en un niño sin otra condición médica previa. La RM cerebral de los individuos afectados revela múltiples lesiones bilaterales simétricas predominantemente en el tálamo y en el tronco cerebral, aunque en algunos casos también en la sustancia blanca periventricular y en el cerebelo."},"it":{"name":"Encefalopatia necrotizzante acuta dell'infanzia","definition":"L'encefalopatia necrotizzante acuta dell'infanzia è una malattia neurologica rara, caratterizzata da crisi epilettiche ad esordio rapido, alterazioni dello stato di coscienza, deterioramento neurologico e disfunzione epatica di grado variabile, secondari a un'infezione respiratoria o gastrointestinale (micoplasmi e virus influenzali) in bambini precedentemente sani. La RMN dei pazienti evidenzia lesioni simmetriche bilaterali multiple, localizzate soprattutto nel talamo e nel tronco encefalico, ma anche, in alcuni pazienti, nella sostanza bianca periventricolare e nel cervelletto."},"nl":{"name":"Acute necrotiserende encefalopathie in de kindertijd","synonyms":["ANEC","Geïsoleerde ANE","Geïsoleerde acute necrotiserende encefalopathie"],"definition":"Een zeldzame, neurologische ziekte, gekarakteriseerd door een vroege aanvang van insulten, veranderingen van het bewustzijn, neurologische aftakeling, en variabele gradaties van leverdisfunctie na een respiratoire of gastro-intestinale infectie (e.g. mycoplasma, influenzavirus) in een voordien gezond kind. MRI van de hersenen van patiënten toont bilaterale, multipele, symmetrische laesies die voornamelijk worden waargenomen in thalami en hersenstam, maar in sommige gevallen ook in periventriculaire witte stof en cerebellum."},"pt":{"name":"Encefalopatia necrotizante aguda da adolescência"},"pl":{"name":"Dziecięca ostra encefalopatia marwicza","synonyms":["ANEC","Izolowana ANE","Izolowana ostra encefalopatia marwicza"]},"cs":{"name":"Akutní nekrotizující encefalopatie dětí","synonyms":["ANEC","Izolovaná ANE","Izolovaná akutní nekrotizující encefalopatie"]},"uk":{"name":"Гостра некротизуюча енцефалопатія дитячого віку","synonyms":["ANEC","Ізольована гостра некротизуюча енцефалопатія","Ізольований АНЕ"],"definition":"A rare neurologic disease characterized by a rapid onset of seizures, an altered state of consciousness, neurologic decline, and variable degrees of hepatic dysfunction following a respiratory or gastrointesitnal infection (e.g. mycoplasma, influenza virus) in a previously healthy child. Brain MRI of patients reveals bilateral, multiple, symmetrical lesions predominantly observed in thalami and brainstem, but also in periventricular white matter and cerebellum in some cases."},"zh":{"name":"儿童急性坏死性脑病","synonyms":["孤立性急性坏死性脑病"],"definition":"一种罕见的神经系统疾病，特征是先前健康的儿童在呼吸道或胃肠道感染(例如支原体、流感病毒)后，癫痫发作迅速，意识状态改变，神经功能下降，以及不同程度的肝功能障碍。患者的头颅MRI表现为双侧、多发性、对称性病变，主要见于丘脑和脑干，但也可见于脑室周围白质和小脑。"},"tr":{"name":"Çocukluk çağı akut nekrotizan ensefalopatisi","synonyms":["ANEC","İzole ANE","İzole akut nekrotizan ensefalopati"]}},"xrefs":[{"source":"OMIM","code":"614212","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G31.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8E47","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0016991","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706387","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68416,"name":"Rare infectious disease"},"parents":[{"orpha":98252,"name":"Infectious encephalitis","classifications":[181,203]}],"children":[],"genes":[{"symbol":"CPT2","name":"carnitine palmitoyltransferase 2","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"20934285[PMID]","hgnc":"2330","ensembl":"ENSG00000157184","omim":"600650","loci":["1p32.3"]},{"symbol":"RANBP2","name":"RAN binding protein 2","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Not yet assessed","source":"19807769[PMID]","hgnc":"9848","ensembl":"ENSG00000153201","omim":"601181","loci":["2q13"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}