Acute encephalopathy with biphasic seizures and late reduced diffusion
Synonyms: AESD · AIEF · Acute infantile encephalopathy predominantly affecting the frontal lobes
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare childhood-onset epilepsy syndrome associated with infection and characterized by a biphasic clinical course. The initial symptom is a prolonged febrile seizure on day 1 (the first phase). Afterwards, patients have variable levels of consciousness from normal to coma. Irrespective of the consciousness levels, magnetic resonance imaging (MRI) during the first 2 days shows no abnormality. During the second phase (usually days 4 - 6), patients show a cluster of seizures and deterioration of consciousness. Diffusion-weighted images (DWI) on MRI reveal the brain lesions with reduced diffusion predominantly in the subcortical white matter. After the second acute phase, consciousness levels improve with the emerging focal neurological signs. Neurological outcomes of AESD vary from normal to mild or severe sequelae including cerebral atrophy, mental retardation, paralysis and epilepsy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acute encephalopathy with biphasic seizures and late reduced diffusion | AESD · AIEF · Acute infantile encephalopathy predominantly affecting the frontal lobes |
| fr | Encéphalopathie aiguë du lobe frontal liée à la fièvre | AESD · AIEF |
| de | Akute Enzephalopathie mit biphasischen Krämpfen und spät reduzierter Diffusion | AESD · AIEF · Akute infantile Enzephalopathie mit vorwiegender Beteiligung der Frontallappen |
| es | Encefalopatía aguda con convulsiones bifásicas y difusión reducida tardía | AESD · AIEF · Encefalopatía aguda infantil con afección principal de los lóbulos frontales |
| it | Encefalopatia acuta con convulsioni bifasiche e ridotta diffusione tardiva | AESD · AIEF · Encefalopatia infantile acuta con coinvolgimento prevalente dei lobi frontali |
| nl | Acute encefalopathie met bifasische insulten en late gereduceerde diffusie | AESD · AIEF · Acute infantiele encefalopathie die voornamelijk frontale kwabben treft |
| pt | Encefalopatia aguda com convulsões bifásicas e redução da difusão tardia | |
| pl | Ostra encefalopatia z napadami dwufazowymi i późną rozlaną dyfuzją | AESD · AIEF · Ostra encefalopatia dziecięca dotyczaca głównie płatów czołowych |
| cs | Akutní encefalopatie s bifázickými záchvaty s pozdní restrikcí difuze v bílé hmotě dle MRI | AESD · AIEF · Akutní kojenecká encefalopatie predominantně postihující frontální laloky |
| uk | Гостра енцефалопатія з двофазними судомними нападами та пізньою зниженою дифузією | Гостра дитяча енцефалопатія з переважним ураженням лобових часток · AESD · AIEF |
| zh | 急性脑病伴双相性癫痫和迟发性弥散减少 | 主要影响额叶的急性婴儿脑病 |
| tr | Bifazik nöbet ve geç azalmış difüzyon ile seyreden akut ensefalopati | AESD · AIEF · Ağırlıklı olarak frontal lobları etkileyen akut infantil ensefalopati |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G40.4 | NTBT | attributed | validated |
| MONDO | 0018198 | E | validated | |
| UMLS | C4707658 | 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
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ADORA2A | Major susceptibility factor in | Assessed | HGNC:263 | ENSG00000128271 | 102776 | 22q11.23 | adenosine A2a receptor | 23535492[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 283 cases | Worldwide | Case(s) | Validated | 21924570[PMID]_23772250[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | 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
12 annotations · validated 2021-05-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002069 | Bilateral tonic-clonic seizure | |
| Frequent (79-30%) | ||
| HP:0012705 | Abnormal metabolic brain imaging by MRS | |
| HP:0011172 | Complex febrile seizure | |
| HP:0007103 | Hypointensity of cerebral white matter on MRI | |
| HP:0032308 | Increased circulating procalcitonin concentration | |
| HP:0007185 | Loss of consciousness | |
| HP:0033349 | Seizure cluster | |
| HP:0032894 | Seizure precipitated by febrile infection | |
| HP:0031691 | Severe viral infection | |
| Occasional (29-5%) | ||
| HP:0031475 | Status epilepticus without prominent motor symptoms | |
| HP:0007738 | Uncontrolled eye movements | |
| Very rare (<4-1%) | ||
| HP:0011665 | Takotsubo cardiomyopathy | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 32001378[PMID]_30327157[PMID]_29725488[PMID]_32829972[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/363549
- This record as JSON: /data/d/363549.json