Paraneoplastic isolated brainstem encephalitis
Synonyms: Paraneoplastic isolated rhombencephalitis · Paraneoplastic isolated rhomboencephalitis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- All ages
- Status
- active
A rare autoimmune encephalitis characterized by various phenotypes depending on the region of the brainstem that is involved; patients are present with gaze palsies (in midbrain involvement), facial palsy or vertical gaze palsies (in pontine involvement), dysarthira, dysphagia or central hypoventilation (in medullary involvement). Additional clinical features may also involve pyramidal symptoms and gait impairment.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Paraneoplastic isolated brainstem encephalitis | Paraneoplastic isolated rhombencephalitis · Paraneoplastic isolated rhomboencephalitis |
| fr | Encéphalite paranéoplasique isolée du tronc cérébral | Rhombencéphalite paranéoplasique isolée · Rhombo-encéphalite paranéoplasique isolée · Rhomboencéphalite paranéoplasique isolée |
| de | Hirnstamm-Enzephalitis, isolierte paraneoplastische | Paraneoplastische isolierte Rhombenzephalitis |
| es | Encefalitis paraneoplásica del tronco encefálico aislada | Rombencefalitis paraneoplásica aislada · Romboencefalitis paraneoplásica aislada |
| it | Encefalite paraneoplastica isolata del tronco encefalico | Rombencefalite paraneoplastica isolata · Romboencefalite paraneoplastica isolata |
| nl | Paraneoplastische geïsoleerde encefalitis van hersenstam | Paraneoplastische geïsoleerde rhombencefalitis · Paraneoplastische geïsoleerde rhombo-encefalitis |
| pt | Encefalite do tronco cerebral paraneoplásica isolada | Rombencefalite paraneoplásica isolada · Romboencefalite paraneoplásica isolada |
| pl | Paranowotworowe izolowane zapalenie pnia mózgu | = en |
| cs | Paraneoplastická izolovaná encefalitida mozkového kmene | = en |
| uk | Паранеопластичний ізольований стовбуровий енцефаліт | Паранеопластичний ізольований ромбенцефаліт · Паранеопластичний ізольований ромбоенцефаліт |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G04.8 | NTBT | attributed | validated |
| ICD-11 | 8E4A.0 | NTBT | index | validated |
| MONDO | 0850104 | E | validated | |
| UMLS | C5680406 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:622014Autoimmune encephalitis
rare neurological diseases - ORPHA:36388Paraneoplastic neurologic syndrome
rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | 34827413[PMID]_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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/624190
- This record as JSON: /data/d/624190.json