Rasmussen syndrome
Synonyms: Rasmussen subacute encephalitis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Childhood
- Status
- active
A rare inflammatory and autoimmune disease with epilepsy characterized by unilateral hemispheric atrophy, associated with drug-resistant focal epilepsy, progressive hemiplegia, and cognitive decline. The disease mainly affects children and begins with a prodromal period with mild hemiparesis or infrequent seizures lasting up to several years. The acute stage is marked by frequent seizures arising from one cerebral hemisphere, followed by a residual stage with persistent severe neurological deficits and relapsing epilepsy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Rasmussen syndrome | Rasmussen subacute encephalitis |
| fr | Syndrome de Ramussen | Encéphalite de Rasmussen · Encéphalite focale de Rasmussen |
| de | Rasmussen-Enzephalitis | Rasmussen-Syndrom |
| es | Síndrome de Rasmussen | Encefalitis subaguda de Rasmussen |
| it | Sindrome di Rasmussen | Encefalite subacuta di Rasmussen |
| nl | Syndroom van Rasmussen | Subacute encefalitis van Rasmussen |
| pt | Encefalite sub-aguda de Rasmussen | Síndrome Rasmussen |
| pl | Podostre zapalenie mózgu Rasmussena | Zespół Rasmussena |
| cs | Rasmussenova subakutní encefalitida | Rasmussenův syndrom · Epilepsia partialis continua dětského věku |
| uk | Підгострий енцефаліт Расмуссена | Синдром Расмуссена |
| zh | Rasmussen亚急性脑炎 | Rasmussen综合症 |
| tr | Rasmussen subakut ensefaliti | Rasmussen sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G04.8 | NTBT | index | validated |
| ICD-11 | 8A62.Y | NTBT | index | validated |
| MONDO | 0016019 | E | validated | |
| MeSH | C535291 | E | validated | |
| UMLS | C2930868 | E | validated | |
| MedDRA | 10071141 | 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 (3):
- ORPHA:98255Chronic encephalitis
rare neurological diseases - ORPHA:166484Inflammatory and autoimmune disease with epilepsy
rare neurological diseases - ORPHA:699645Variable age-onset epilepsy syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 100 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | Unknown | — | Worldwide | 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.
HPO phenotypes
48 annotations · validated 2021-01-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007359 | Focal-onset seizure | |
| HP:0004302 | Functional motor deficit | |
| Frequent (79-30%) | ||
| HP:0002960 | Autoimmunity | |
| HP:0100308 | Cerebral cortical hemiatrophy | |
| HP:0100543 | Cognitive impairment | |
| HP:0011195 | EEG with focal sharp slow waves | |
| HP:0011193 | EEG with focal spikes | |
| HP:0012847 | Epilepsia partialis continua | |
| HP:0002349 | Focal aware seizure | |
| HP:0002384 | Focal impaired awareness seizure | |
| HP:0011153 | Focal motor seizure | |
| HP:0001269 | Hemiparesis | |
| HP:0004305 | Involuntary movements | |
| HP:0032665 | Repeated focal motor seizures | |
| HP:0012157 | Subcortical cerebral atrophy | |
| HP:0002119 | Ventriculomegaly | |
| Occasional (29-5%) | ||
| HP:0002134 | Abnormal basal ganglia morphology | |
| HP:0002921 | Abnormality of the cerebrospinal fluid | |
| HP:0020151 | Anti-dsDNA antibody positivity | |
| HP:0003493 | Antinuclear antibody positivity | |
| HP:0002381 | Aphasia | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000708 | Atypical behavior | |
| HP:0007334 | Bilateral tonic-clonic seizure with focal onset | |
| HP:0025190 | Bilateral tonic-clonic seizure with generalized onset | |
| HP:0031491 | Continuous spike and waves during slow sleep | |
| HP:0001260 | Dysarthria | |
| HP:0100660 | Dyskinesia | |
| HP:0011185 | EEG with focal epileptiform discharges | |
| HP:0000712 | Emotional lability | |
| HP:0032046 | Focal cortical dysplasia | |
| HP:0010818 | Generalized tonic seizure | |
| HP:0032005 | Hemidystonia | |
| HP:0000752 | Hyperactivity | |
| HP:0002540 | Inability to walk | |
| HP:0002922 | Increased CSF protein concentration | |
| HP:0031535 | Increased theta frequency activity in EEG | |
| HP:0011182 | Interictal epileptiform activity | |
| HP:0000737 | Irritability | |
| HP:0002354 | Memory impairment | |
| HP:0012708 | Reduced brain N-acetyl aspartate level by MRS | |
| HP:0011163 | Somatosensory auras | |
| HP:0001328 | Specific learning disability | |
| HP:0000572 | Visual loss | |
| Very rare (<4-1%) | ||
| HP:0003460 | Decreased circulating total IgA | |
| HP:0011097 | Epileptic spasm | |
| HP:0032661 | Generalized convulsive status epilepticus | |
| HP:0002283 | Global brain atrophy | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 30530407[PMID]_28572051[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1929
- This record as JSON: /data/d/1929.json