New-onset refractory status epilepticus
Synonyms: NORSE
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult
- Status
- active
New-onset refractory status epilepticus is an acute encephalopathy with inflammation-mediated status epilepticus characterized by an acute refractory status epilepticus, typically of the tonic-clonic type, following prodromal symptoms of confusion, fever, fatigue, headache, symptoms of gastrointestinal or upper respiratory tract infection, behavioral changes or hallucinations. Brain MRI abnormalities and abnormal findings in CSF, including pleocytosis and/or elevated protein levels, are frequently found during acute episode. Treatment-resistant epilepsy, cognitive and psychiatric impairments are usual consequences.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | New-onset refractory status epilepticus | NORSE |
| fr | Etat de mal épileptique réfractaire d'apparition tardive | NORSE · Etat de mal épileptique réfractaire de l'adulte lié à la fièvre |
| de | Neu-beginnender refraktärer Status epilepticus | = en |
| es | Estatus epiléptico refractario de nueva aparición | = en |
| it | Stato epilettico refrattario di nuova insorgenza | = en |
| nl | Nieuw beginnende refractaire status epilepticus | = en |
| pt | Estado de mal epiléptico refratário de início precoce | |
| pl | Nawracający stan padaczkowy o nowym początku | = en |
| cs | Nově vzniklý refrakterní status epilepticus | = en |
| uk | Рефрактерний епілептичний статус, що виник вперше | = en |
| zh | 新发性难治性癫痫持续状态 | = en |
| tr | Yeni başlayan refrakter status epileptikus | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G41.8 | NTBT | attributed | validated |
| MONDO | 0018199 | E | validated | |
| UMLS | C4749462 | E | validated | |
| GARD | 12244 | E | validated | |
| MedDRA | 10087465 | 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 (1):
- ORPHA:363567Acute encephalopathy with inflammation-mediated status epilepticus
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 | ORPHANET_28396650[PMID] |
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
37 annotations · validated 2021-05-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0002133 | Status epilepticus | |
| Very frequent (99-80%) | ||
| HP:0025373 | Interictal EEG abnormality | |
| HP:0032867 | Refractory status epilepticus | |
| HP:0032894 | Seizure precipitated by febrile infection | |
| Frequent (79-30%) | ||
| HP:0011117 | Abnormal circulating interleukin concentration | |
| HP:0002457 | Abnormal head movements | |
| HP:0002960 | Autoimmunity | |
| HP:0007334 | Bilateral tonic-clonic seizure with focal onset | |
| HP:0410263 | Brain imaging abnormality | |
| HP:0012229 | CSF pleocytosis | |
| HP:0100543 | Cognitive impairment | |
| HP:0033716 | EEG with frontal epileptiform discharges | |
| HP:0010845 | EEG with generalized slow activity | |
| HP:0033717 | EEG with temporal epileptiform discharges | |
| HP:0011468 | Facial tics | |
| HP:0001945 | Fever | |
| HP:0007183 | Focal T2 hyperintense basal ganglia lesion | |
| HP:0011154 | Focal autonomic seizure | |
| HP:0020217 | Focal aware motor seizure | |
| HP:0002384 | Focal impaired awareness seizure | |
| HP:0004302 | Functional motor deficit | |
| HP:0002922 | Increased CSF protein concentration | |
| Occasional (29-5%) | ||
| HP:0012696 | Abnormal thalamic MRI signal intensity | |
| HP:0000708 | Atypical behavior | |
| HP:0030915 | Cerebellar edema | |
| HP:0001289 | Confusion | |
| HP:0011198 | EEG with generalized epileptiform discharges | |
| HP:0010850 | EEG with spike-wave complexes | |
| HP:0012378 | Fatigue | |
| HP:0002283 | Global brain atrophy | |
| HP:0002315 | Headache | |
| HP:0002383 | Infectious encephalitis | |
| HP:0010841 | Multifocal epileptiform discharges | |
| HP:0032794 | Myoclonic seizure | |
| HP:0031358 | Vegetative state | |
| Very rare (<4-1%) | ||
| HP:0012751 | Abnormal basal ganglia MRI signal intensity | |
| HP:0031475 | Status epilepticus without prominent motor symptoms | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 30482654[PMID]_32372459[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/363558
- This record as JSON: /data/d/363558.json