Leukoencephalopathy with bilateral anterior temporal lobe cysts
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, nonprogressive, neurological disorder marked by intellectual deficit, spasticity and motor retardation associated with characteristic MRI findings of anterior bilateral temporal lobe cysts and multilobar leukoencephalopathy. So far, around 30 cases have been reported in the literature. Onset occurs in the first few months of life. Sensorineural deafness and microcephaly have also been reported. The etiology is unknown but an autosomal recessive mode of inheritance has been suggested.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Leukoencephalopathy with bilateral anterior temporal lobe cysts | |
| fr | Leucoencéphalopathie avec kystes bilatéraux de la partie antérieure du lobe temporal | |
| de | Leukoenzephalopathie mit beiderseitigen vorderen Temporallappen-Zysten | |
| es | Leucoencefalopatía con quistes anteriores y bilaterales en el lóbulo temporal | |
| it | Leucoencefalopatia con cisti bilaterali dei lobi temporali anteriori | |
| nl | Leuko-encefalopathie met bilaterale anterieure temporaalkwabcysten | |
| pt | Leucoencefalopatia com quistos bilaterais do lobo temporal anterior | |
| pl | Leukoencefalopatia z obustronnymi torbielami przedniego płata skroniowego | |
| cs | Leukoencefalopatie s bilaterálními cystami přední části temporálního laloku | |
| uk | Лейкоенцефалопатія з двобічними кістами передньої скроневої частки | |
| zh | 脑白质病伴双侧颞叶前叶囊肿 | |
| tr | Bilateral anterior temporal lob kist ile seyreden lökoensefalopati |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E75.2 | NTBT | attributed | validated |
| ICD-11 | 8A44.3 | NTBT | index | validated |
| MONDO | 0015348 | E | validated | |
| UMLS | C4304744 | 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:68356Leukodystrophy
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 | 29 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| 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
14 annotations · validated 2019-07-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| HP:0010576 | Intracranial cystic lesion | |
| HP:0002352 | Leukoencephalopathy | |
| HP:0002061 | Lower limb spasticity | |
| HP:0001270 | Motor delay | |
| Frequent (79-30%) | ||
| HP:0001344 | Absent speech | |
| HP:0008936 | Axial hypotonia | |
| HP:0003487 | Babinski sign | |
| HP:0002169 | Clonus | |
| HP:0004302 | Functional motor deficit | |
| HP:0000252 | Microcephaly | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0000486 | Strabismus | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 15626547[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/139444
- This record as JSON: /data/d/139444.json