RNASET2-deficient cystic leukoencephalopathy

info · Genetic

A leukodystrophy that is characterized by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment.

Signs and symptoms

Delayed speech and language development
Global developmental delay
Spasticity
Seizure
Poor speech
Focal white matter lesions
Microcephaly
Leukoencephalopathy
Doll-like facies
Ataxia

Also known as: cystic leukoencephalopathy without megalencephaly; infantile-onset RNASET2 deficient cystic leukoencephalopathy