{"orpha":1576,"name":"Infantile bilateral striatal necrosis","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["Infantile striatonigral degeneration","Infantile striatonigral necrosis","IBSN"],"definition":"Infantile bilateral striatal necrosis (IBSN) comprises several syndromes of bilateral symmetric spongy degeneration of the caudate nucleus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1576/","orphanet_url":"https://www.orpha.net/en/disease/detail/1576","names":{"fr":{"name":"Nécrose striatale bilatérale de l'enfant","synonyms":["Dégénérescence striato-nigrique de l'enfant","Dégénérescence strio-nigrique de l'enfant","Nécrose striato-nigrique de l'enfant","Nécrose strio-nigrique de l'enfant"],"definition":"La nécrose striatale bilatérale de l'enfant (IBSN) comprend plusieurs syndromes de dégénérescence spongieuse symétrique bilatérale du noyau caudé, du putamen et du globus pallidus caractérisés par une régression développementale, une chréo-athétose et une dystonie évoluant vers une quadriparésie spastique. L'IBSN peut être familiale ou sporadique."},"de":{"name":"Striatale Nekrose, infantile","synonyms":["Degeneration, infantile stratonigrale","IBSN"]},"es":{"name":"Necrosis estriatal bilateral infantil","synonyms":["Degeneración estriatonigral infantil","Necrosis estriatonigral infantil"],"definition":"La necrosis estriatal bilateral infantil (IBSN) comprende varios síndromes de degeneración esponjosa bilateral y simétrica del núcleo caudado, del putamen y del globo pálido, caracterizada por una regresión en el desarrollo, coreoatetosis y distonía que progresa a una cuadriparesia espástica. La IBSN puede ser familiar o esporádica (véanse estos términos)."},"it":{"name":"Necrosi striatale bilaterale infantile","synonyms":["Degenerazione nigrostriatale infantile","IBSN","Necrosi nigrostriatale infantile"]},"nl":{"name":"Infantiele bilaterale striatale necrose","synonyms":["IBSN","Infantiele striatonigrale degeneratie","Infantiele striatonigrale necrose"],"definition":"Infantiele bilaterale striatale necrose (IBSN) omvat verschillende syndromen van bilaterale symmetrische spongiforme degeneratie van nucleus caudatus, putamen en globus pallidus, gekenmerkt door ontwikkelingsregressie, choreoathetose en dystonie met progressie naar spastische quadriparese. IBSN kan familiaal of sporadisch optreden."},"pt":{"name":"Necrose do estriado bilateral da infância","synonyms":["Degenerescência do corpo estriado familiar","Degenerescência estriato-nígrica do lactente"]},"pl":{"name":"Obustronna martwica prążkowia noworodków","synonyms":["Dziecięca martwica prążkowia i istoty czarnej","Dziecięce zwyrodnienie prążkowia i istoty czarnej","IBSN"]},"cs":{"name":"Infantilní bilaterální nekróza striata","synonyms":["IBSN","Infantilní striatonigrální degenerace","Infantilní striatonigrální nekróza"]},"uk":{"name":"Інфантильний двосторонній некроз стріатума","synonyms":["IBSN","Інфантильна стриатоніградна дегенерація","Інфантильний стриатонігральний некроз"],"definition":"Infantile bilateral striatal necrosis (IBSN) comprises several syndromes of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic (see these terms)."},"zh":{"name":"婴幼儿双侧纹状体坏死","synonyms":["婴幼儿双侧纹状体变性"]},"tr":{"name":"İnfantil bilateral striatal nekroz","synonyms":["IBSN","İnfantil striatonigral nekroz","İnfantil striatonigral dejenerasyon"]}},"xrefs":[{"source":"OMIM","code":"271930","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"500003","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"MONDO","code":"0015518","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"15518","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537500","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0795996","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5040","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":183500,"name":"Genetic neurodegenerative disease","classifications":[156]},{"orpha":307058,"name":"Miscellaneous movement disorder due to genetic neurodegenerative disease","classifications":[156]},{"orpha":306695,"name":"Miscellaneous movement disorder due to neurodegenerative disease","classifications":[181]},{"orpha":182070,"name":"Rare neurodegenerative disease","classifications":[181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[{"orpha":225154,"name":"Familial infantile bilateral striatal necrosis","type":"Disease"},{"orpha":225147,"name":"Sporadic infantile bilateral striatal necrosis","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","Mitochondrial inheritance","Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET"}],"phenotypes":null}