{"orpha":2672,"name":"Neuhauser-Eichner-Opitz syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Recurrent encephalophathy of childhood"],"definition":"A rare genetic neurological disorder characterized by infantile or childhood onset of recurrent acute encephalopathic episodes with cerebellar and extrapyramidal involvement following febrile illnesses. During the episodes, patients typically show sudden onset of truncal ataxia, occasionally accompanied by lethargy and impairment of speech, as well as choreic and athetoid movements, seizures, loss of deep tendon reflexes, and presence of pathological reflexes. Episodes last from day to weeks and may leave residual symptoms such as speech impairment and poor coordination. There have been no further descriptions in the literature since 1983.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2672/","orphanet_url":"https://www.orpha.net/en/disease/detail/2672","names":{"fr":{"name":"Syndrome de Neuhauser-Eichner-Opitz","synonyms":["Encéphalopathie récurrente infantile"],"definition":"Maladie neurologique génétique rare, caractérisée par l'apparition, pendant la petite enfance ou l'enfance, d'épisodes récurrents d'encéphalopathie aiguë avec atteinte cérébelleuse et extrapyramidale à la suite de maladies fébriles. Au cours des épisodes, les patients présentent généralement une ataxie tronculaire d'apparition brutale, parfois accompagnée de léthargie et de troubles de l'élocution, ainsi que de chorée, d'athétose, de crises convulsives, d'une perte des réflexes tendineux profonds en présence de réflexes pathologiques. Les épisodes durent de quelques jours à quelques semaines et peuvent donner lieu à des symptômes résiduels, tels que des troubles de l'élocution et une mauvaise coordination. Aucun cas n'a été décrit dans la littérature depuis 1983."},"de":{"name":"Neuhauser-Eichner-Opitz-Syndrom","synonyms":["Enzephalopathie, rekurrente infantile"],"definition":"Eine seltene genetisch bedingte neurologische Störung, die durch wiederkehrende akute enzephalopathische Episoden mit zerebellärer und extrapyramidaler Beteiligung nach fiebrigen Erkrankungen im Säuglings- oder Kindesalter gekennzeichnet ist. Während der Episoden zeigen die Patienten typischerweise eine plötzlich einsetzende Rumpfataxie, gelegentlich begleitet von Lethargie und Sprachstörungen, sowie choreische und athetoide Bewegungen, Krampfanfälle, Verlust der tiefen Sehnenreflexe und das Vorhandensein pathologischer Reflexe. Die Episoden dauern von einem Tag bis zu mehreren Wochen und können Restsymptome wie Sprachstörungen und Koordinationsschwierigkeiten hinterlassen. Seit 1983 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de Neuhauser-Eichner-Opitz","synonyms":["Encefalopatía recurente de la infancia"],"definition":"Es un trastorno neurológico de origen genético poco frecuente que se caracteriza por la aparición en la infancia de episodios encefalopáticos agudos recurrentes con afectación cerebelosa y extrapiramidal que siguen a una enfermedad febril. Durante los episodios, los pacientes suelen mostrar una aparición repentina de ataxia troncal, ocasionalmente acompañada de letargia y alteración del habla, así como movimientos coreicos y atetósicos, crisis, pérdida de reflejos tendinosos profundos y presencia de reflejos patológicos. Los episodios duran desde un día a semanas y pueden dejar síntomas residuales como la alteración del habla y la mala coordinación. No ha habido más descripciones en la literatura desde 1983."},"it":{"name":"Sindrome di Neuhauser-Eichner-Opitz","synonyms":["Encefalopatia ricorrente infantile"],"definition":"Si tratta di una malattia neurologica genetica rara, caratterizzata da episodi acuti e ricorrenti di encefalopatia ad esordio nella prima infanzia o nell'infanzia, con interessamento cerebellare ed extrapiramidale a seguito di malattie febbrili. Gli episodi sono caratterizzata da atassia del tronco ad esordio improvviso, occasionalmente associata a letargia, compromissione del linguaggio, movimenti coreici e atetosici, crisi epilettiche, perdita dei riflessi tendinei profondi e riflessi patologici. Gli episodi durano alcuni giorni o settimane, e alcuni sintomi possono persistere (deficit del linguaggio e scarsa coordinazione). Non sono stati descritti nuovi casi dopo il 1983."},"nl":{"name":"Syndroom van Neuhauser-Eichner-Opitz","synonyms":["Terugkerende encefalophathie in de kinderjaren"],"definition":"Een zeldzame, genetische neurologische aandoening, gekenmerkt door in de zuigelingen- of kindertijd optredende recidiverende acute encefalopathische episodes met cerebellaire en extrapiramidale betrokkenheid, gevolgd door febriele ziekten. Tijdens de episodes vertonen patiënten doorgaans plotse aanvang van rompataxie, soms vergezeld van lethargie en spraakstoornis, alsook choreatische en athetoïde bewegingen, insulten, verlies van diepe peesreflexen, en aanwezigheid van pathologische reflexen. Episodes duren een dag tot weken, en kunnen restsymptomen nalaten, zoals spraakstoornis en ondermaatse coördinatie. Sinds 1983 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome Neuhauser-Eichner-Opitz","synonyms":["Encefalopatia recorrente infantil"]},"pl":{"name":"Zespół Neuhausera, Eichnera i Opitza","synonyms":["Nawracająca encefalopatia dziecięca"]},"cs":{"name":"Neuhauserův-Eichnerův-Opitzův syndrom","synonyms":["Rekurentní dětská encefalopatie","Neuhauser-Eichner-Opitzův syndrom"]},"uk":{"name":"Синдром Нойхаузера-Ейхнера-Опітца","synonyms":["Рецидивуюча енцефалопатія дитячого віку"],"definition":"A rare genetic neurological disorder characterized by infantile or childhood onset of recurrent acute encephalopathic episodes with cerebellar and extrapyramidal involvement following febrile illnesses. During the episodes, patients typically show sudden onset of truncal ataxia, occasionally accompanied by lethargy and impairment of speech, as well as choreic and athetoid movements, seizures, loss of deep tendon reflexes, and presence of pathological reflexes. Episodes last from day to weeks and may leave residual symptoms such as speech impairment and poor coordination. There have been no further descriptions in the literature since 1983."},"zh":{"name":"Neuhauser-Eichner-Opitz综合征","synonyms":["儿童复发性脑病"]},"tr":{"name":"Neuhauser-Eichner-Opitz sendromu","synonyms":["Tekrarlayan çocukluk çağı ensefalofatisi"]}},"xrefs":[{"source":"OMIM","code":"130950","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G93.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0007539","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536407","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1851708","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":183518,"name":"Hereditary ataxia","classifications":[156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"6859111[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_6859111[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-09-05","source":null,"terms":[{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003552","label":"Muscle stiffness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002063","label":"Rigidity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002381","label":"Aphasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010529","label":"Echolalia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002300","label":"Mutism","frequency":"Occasional (29-5%)","criteria":null}]}}