Parents

RNASET2-deficient leukoencephalopathy also called “cystic leukoencephalopathy without megalencephaly” is a very rare inherited neurological disorder. Individuals with RNASET2-deficient leukoencephalopathy manifest neurological problems in early infancy. They show intellectual disability, a delay in developing motor skills like crawling and walking, spasticity (muscle stiffness), seizures, and dystonia (uncontrolled muscle tensing). Brain imaging may reveal cysts in distinct regions of the brain and enlarged ventricles (fluid-filled cavities in the brain). In proximity of the cysts and enlarged ventricles the brain white matter (a fatty substance mainly made up of myelinated nerve fibres) can show abnormalities. Frequently, the affected individuals show microcephaly (abnormally small head circumference and brain size).