ORPHA:225147
Sporadic infantile bilateral striatal necrosis
Synonyms: ABSN · Acute bilateral striatal necrosis · Sporadic IBSN · Sporadic infantile striatonigral degeneration · Sporadic infantile striatonigral necrosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- All ages
- Status
- active
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.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Sporadic infantile bilateral striatal necrosis | ABSN · Acute bilateral striatal necrosis · Sporadic IBSN · Sporadic infantile striatonigral degeneration · Sporadic infantile striatonigral necrosis |
| fr | Nécrose striatale bilatérale de l'enfant, forme sporadique | 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 |
| de | Striatale Nekrose, bilaterale infantile, sporadische Form | ABSN · Nekrose, striatale, akute bilaterale · Sporadische IBSN · Sporadische infantile striatonigrale Degeneration · Striatonigrale Nekrose, infantile sporadische |
| es | Necrosis estriatal bilateral esporádica infantil | ABSN · Degeneración estriatonigral esporádica infantil · IBSN esporádica · Necrosis estriatal bilateral aguda · Necrosis estriatonigral esporádica infantil |
| it | Necrosi striatale bilaterale infantile sporadica | Degenerazione nigrostriatale infantile sporadica · IBSN sporadica · Necrosi nigrostriatale infantile sporadica |
| nl | Sporadische infantiele bilaterale striatale necrose | ABSN · Acute bilaterale striatale necrose · Sporadische IBSN · Sporadische infantiele striatonigrale degeneratie · Sporadische infantiele striatonigrale necrose |
| pt | Necrose do estriado bilateral da infância esporádica | |
| pl | Sporadyczna obustronna dziecięca martwica prążkowia | Sporadyczna dziecięca martwica nigrostriatialna · Sporadyczna IBSN · Sporadyczne zwyrodnienie striatonigralne |
| cs | Sporadická infantilní bilaterální nekróza striata | Sporadická IBSN · Sporadická infantilní striatonigrální degenerace · Sporadická infantilní striatonigrální nekróza |
| uk | Спорадичний інфантильний двосторонній некроз стріатуму | ABSN · Гострий двосторонній стриатальний некроз · Спорадичні IBSN · Спорадична дитяча стриатоніградна дегенерація · Спорадичний інфантильний стриатонігральний некроз |
| zh | 散发性婴幼儿双侧纹状体坏死 | 散发性婴幼儿黑质纹状体退化 |
| tr | Sporadik infantil bilateral striatal nekroz | ABSN · Sporadik IBSN · Akut bilateral striatal nekroz · Sporadik infantil striatonigral nekroz · Sporadik infantil striatonigral dejenerasyon |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G23.2 | NTBT | attributed | validated |
| ICD-11 | LD90.Y | NTBT | index | validated |
| MONDO | 0016394 | E | validated | |
| UMLS | C4087175 | E | validated | |
| MedDRA | 10077451 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:1576Infantile bilateral striatal necrosis
rare genetic diseases; rare neurological diseases
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
38 annotations · validated 2019-03-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0002533 | Abnormal posturing | |
| HP:0100022 | Abnormality of movement | |
| HP:0008936 | Axial hypotonia | |
| HP:0001260 | Dysarthria | |
| HP:0002015 | Dysphagia | |
| HP:0000273 | Facial grimacing | |
| HP:0030215 | Inappropriate crying | |
| HP:0002788 | Recurrent upper respiratory tract infections | |
| HP:0001250 | Seizure | |
| HP:0001328 | Specific learning disability | |
| Occasional (29-5%) | ||
| HP:0003487 | Babinski sign | |
| HP:0002067 | Bradykinesia | |
| HP:0002072 | Chorea | |
| HP:0002307 | Drooling | |
| HP:0001332 | Dystonia | |
| HP:0008947 | Floppy infant | |
| HP:0007359 | Focal-onset seizure | |
| HP:0002066 | Gait ataxia | |
| HP:0001288 | Gait disturbance | |
| HP:0002301 | Hemiplegia | |
| HP:0001347 | Hyperreflexia | |
| HP:0000338 | Hypomimic face | |
| HP:0007185 | Loss of consciousness | |
| HP:0000298 | Mask-like facies | |
| HP:0002300 | Mutism | |
| HP:0040288 | Nasogastric tube feeding | |
| HP:0011151 | Obtundation status | |
| HP:0001300 | Parkinsonism | |
| HP:0025439 | Pharyngitis | |
| HP:0002465 | Poor speech | |
| HP:0002033 | Poor suck | |
| HP:0007158 | Progressive extrapyramidal muscular rigidity | |
| HP:0005366 | Recurrent streptococcus pneumoniae infections | |
| HP:0004372 | Reduced consciousness | |
| HP:0002322 | Resting tremor | |
| HP:0000736 | Short attention span | |
| HP:0030187 | Titubation | |
| HP:0000020 | Urinary incontinence | |
Annotation source: 17940250[PMID]_7619197[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/225147
- This record as JSON: /data/d/225147.json