ORPHA:79138
Bickerstaff brainstem encephalitis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- All ages
- Status
- active
A rare autoimmune encephalitis/neuropathy characterized by disturbances of consciousness, ophthalmoplegia, ataxia, and hyperreflexia. It has common clinical features with Miller Fisher syndrome.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Bickerstaff brainstem encephalitis | |
| fr | Rhombencéphalite de Bickerstaff | Rhombencéphalite postinfectieuse de Bickerstaff · Syndrome de Bickerstaff |
| de | Bickerstaff-Enzephalitis | Bickerstaff-Hirnstammenzephalitis |
| es | Encefalitis troncoencefálica de Bickerstaff | |
| it | Encefalite troncoencefalica di Bickerstaff | |
| nl | Bickerstaff-hersenstamencefalitis | |
| pt | Encefalite do tronco cerebral Bickerstaff | |
| pl | Zapalenie pnia mózgu Bickerstaffa | |
| cs | Bickerstaffova kmenová encefalitida | |
| uk | Стовбуровий енцефаліт Бікерстаффа | |
| zh | Bickerstaff脑干脑炎 | |
| tr | Bickerstaff beyin sapı ensefaliti |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G61.0 | NTBT | attributed | validated |
| ICD-11 | 8C01.0 | NTBT | index | validated |
| MONDO | 0019208 | E | validated | |
| UMLS | C1960543 | E | validated | |
| MedDRA | 10076985 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:622014Autoimmune encephalitis
rare neurological diseases - ORPHA:231416Regional variant of Guillain-Barré syndrome
rare neurological diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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.
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HPO phenotypes
47 annotations · validated 2021-09-30| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001251 | Ataxia | |
| HP:0007305 | CNS demyelination | |
| HP:0001289 | Confusion | |
| HP:0003431 | Decreased motor nerve conduction velocity | |
| HP:0002329 | Drowsiness | |
| HP:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation | |
| HP:0000602 | Ophthalmoplegia | |
| HP:0032169 | Severe infection | |
| Frequent (79-30%) | ||
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0012696 | Abnormal thalamic MRI signal intensity | |
| HP:0002270 | Abnormality of the autonomic nervous system | |
| HP:0007131 | Acute demyelinating polyneuropathy | |
| HP:0001284 | Areflexia | |
| HP:0030057 | Autoimmune antibody positivity | |
| HP:0000651 | Diplopia | |
| HP:0012534 | Dysesthesia | |
| HP:0002094 | Dyspnea | |
| HP:0002353 | EEG abnormality | |
| HP:0007209 | Facial paralysis | |
| HP:0002922 | Increased CSF protein concentration | |
| HP:0003690 | Limb muscle weakness | |
| HP:0002090 | Pneumonia | |
| HP:0011947 | Respiratory tract infection | |
| Occasional (29-5%) | ||
| HP:0001291 | Abnormal cranial nerve morphology | |
| HP:0000496 | Abnormality of eye movement | |
| HP:0009916 | Anisocoria | |
| HP:0003487 | Babinski sign | |
| HP:0001348 | Brisk reflexes | |
| HP:0001283 | Bulbar palsy | |
| HP:0012229 | CSF pleocytosis | |
| HP:0001259 | Coma | |
| HP:0010628 | Facial palsy | |
| HP:0012416 | Hypercapnia | |
| HP:0100786 | Hypersomnia | |
| HP:0010831 | Impaired proprioception | |
| HP:0011499 | Mydriasis | |
| HP:0000639 | Nystagmus | |
| HP:0012531 | Pain | |
| HP:0000508 | Ptosis | |
| HP:0031123 | Recurrent gastroenteritis | |
| HP:0001315 | Reduced tendon reflexes | |
| HP:0002878 | Respiratory failure | |
| HP:0004887 | Respiratory failure requiring assisted ventilation | |
| HP:0010871 | Sensory ataxia | |
| HP:0002273 | Tetraparesis | |
| HP:0002445 | Tetraplegia | |
| HP:0030319 | Weakness of facial musculature | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 32934014[PMID]_33378029[PMID]_32655484[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79138
- This record as JSON: /data/d/79138.json