leukoencephalopathy with bilateral anterior temporal lobe cysts
Findings
No curated finding names leukoencephalopathy with bilateral anterior temporal lobe cysts yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Leukoencephalopathy with bilateral anterior temporal lobe cysts is a 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.
Definition from the Mondo Disease Ontology (MONDO:0015348), read 2026-09-29. CC BY 4.0.
Features
14 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Intracranial cystic lesionHPOHP:0010576
- Very frequent (80% to 99% of cases)
- LeukoencephalopathyHPOHP:0002352
- Very frequent (80% to 99% of cases)
- Lower limb spasticityHPOHP:0002061
- Very frequent (80% to 99% of cases)
- Motor delayHPOHP:0001270
- Very frequent (80% to 99% of cases)
Show the remaining 2
- Sensorineural hearing impairmentHPOHP:0000407
- Frequent (30% to 79% of cases)
- StrabismusHPOHP:0000486
- Frequent (30% to 79% of cases)
Where it sits
- A kind of