{"orpha":225147,"name":"Sporadic infantile bilateral striatal necrosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ABSN","Acute bilateral striatal necrosis","Sporadic IBSN","Sporadic infantile striatonigral degeneration","Sporadic infantile striatonigral necrosis"],"definition":"Sporadic infantile bilateral necrosis is the sporadic form of infantile bilateral striatal necrosis (IBSN), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-225147/","orphanet_url":"https://www.orpha.net/en/disease/detail/225147","names":{"fr":{"name":"Nécrose striatale bilatérale de l'enfant, forme sporadique","synonyms":["Dégénérescence striato-nigrique de l'enfant, forme sporadique","Dégénérescence strio-nigrique de l'enfant, forme sporadique","Nécrose striato-nigrique de l'enfant, forme sporadique","Nécrose strio-nigrique de l'enfant, forme sporadique"],"definition":"La nécrose striatale bilatérale de l'enfant, (IBSN) forme sporadique est la forme sporadique de la nécrose striatale bilatérale de l'enfant , un syndrome de dégénérescence spongieuse symétrique bilatérale du noyau caudé, du putamen et du globus pallidus caractérisée par une régression développementale, une choréo-athétose et une dystonie évoluant en quadriparésie spastique."},"de":{"name":"Striatale Nekrose, bilaterale infantile, sporadische Form","synonyms":["ABSN","Nekrose, striatale, akute bilaterale","Sporadische IBSN","Sporadische infantile striatonigrale Degeneration","Striatonigrale Nekrose, infantile sporadische"]},"es":{"name":"Necrosis estriatal bilateral esporádica infantil","synonyms":["ABSN","Degeneración estriatonigral esporádica infantil","IBSN esporádica","Necrosis estriatal bilateral aguda","Necrosis estriatonigral esporádica infantil"],"definition":"La necrosis estriatal bilateral infantil esporádica es la forma esporádica de la necrosis estriatal bilateral infantil (IBSN) (consulte este término), un síndrome de degeneración esponjosa bilateral y simétrica del núcleo caudado, el putamen y el globo pálido, caracterizado por regresión en el desarrollo, coreoatetosis y distonía que conduce a cuadriparesia espástica."},"it":{"name":"Necrosi striatale bilaterale infantile sporadica","synonyms":["Degenerazione nigrostriatale infantile sporadica","IBSN sporadica","Necrosi nigrostriatale infantile sporadica"]},"nl":{"name":"Sporadische infantiele bilaterale striatale necrose","synonyms":["ABSN","Acute bilaterale striatale necrose","Sporadische IBSN","Sporadische infantiele striatonigrale degeneratie","Sporadische infantiele striatonigrale necrose"],"definition":"Sporadische infantiele bilaterale striatale necrose is de sporadische vorm van infantiele bilaterale striatale necrose (IBSN), een syndroom van bilaterale symmetrische spongiforme degeneratie van nucleus caudatus, putamen en globus pallidus, gekenmerkt door ontwikkelingsregressie, choreoathetose en dystonie met progressie naar spastische quadriparese."},"pt":{"name":"Necrose do estriado bilateral da infância esporádica"},"pl":{"name":"Sporadyczna obustronna dziecięca martwica prążkowia","synonyms":["Sporadyczna dziecięca martwica nigrostriatialna","Sporadyczna IBSN","Sporadyczne zwyrodnienie striatonigralne"]},"cs":{"name":"Sporadická infantilní bilaterální nekróza striata","synonyms":["Sporadická IBSN","Sporadická infantilní striatonigrální degenerace","Sporadická infantilní striatonigrální nekróza"]},"uk":{"name":"Спорадичний інфантильний двосторонній некроз стріатуму","synonyms":["ABSN","Гострий двосторонній стриатальний некроз","Спорадичні IBSN","Спорадична дитяча стриатоніградна дегенерація","Спорадичний інфантильний стриатонігральний некроз"],"definition":"Sporadic infantile bilateral necrosis is the sporadic form of infantile bilateral striatal necrosis (IBSN; see this term), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis."},"zh":{"name":"散发性婴幼儿双侧纹状体坏死","synonyms":["散发性婴幼儿黑质纹状体退化"],"definition":"散发性婴儿双侧纹状体坏死是婴儿双侧纹状体坏死（IBSN；见该词条）的散发形式，是一种双侧对称性尾状核、壳核和苍白球海绵状变性的综合征，其特征是发育退化、舞蹈病和肌张力障碍并进展为痉挛性四肢轻瘫。"},"tr":{"name":"Sporadik infantil bilateral striatal nekroz","synonyms":["ABSN","Sporadik IBSN","Akut bilateral striatal nekroz","Sporadik infantil striatonigral nekroz","Sporadik infantil striatonigral dejenerasyon"]}},"xrefs":[{"source":"ICD-10","code":"G23.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD90.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1174703901"},{"source":"MONDO","code":"0016394","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4087175","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10077451","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":1576,"name":"Infantile bilateral striatal necrosis","classifications":[156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"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":{"validation_status":"y","online":"y","validation_date":"2019-03-22","source":"17940250[PMID]_7619197[PMID]","terms":[{"hpo":"HP:0002533","label":"Abnormal posturing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008936","label":"Axial hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000273","label":"Facial grimacing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030215","label":"Inappropriate crying","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002788","label":"Recurrent upper respiratory tract infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002067","label":"Bradykinesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002072","label":"Chorea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002307","label":"Drooling","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007359","label":"Focal-onset seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002301","label":"Hemiplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000338","label":"Hypomimic face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007185","label":"Loss of consciousness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000298","label":"Mask-like facies","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002300","label":"Mutism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040288","label":"Nasogastric tube feeding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011151","label":"Obtundation status","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001300","label":"Parkinsonism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025439","label":"Pharyngitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002465","label":"Poor speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002033","label":"Poor suck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007158","label":"Progressive extrapyramidal muscular rigidity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005366","label":"Recurrent streptococcus pneumoniae infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004372","label":"Reduced consciousness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002322","label":"Resting tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000736","label":"Short attention span","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030187","label":"Titubation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000020","label":"Urinary incontinence","frequency":"Occasional (29-5%)","criteria":null}]}}