Abstract
Background: We recently described that human RNASET2-deficiency results in cystic leukoencephalopathy (Nat Genet 2009; 41:773–775). The clinical phenotype as well as the brain MRI pattern of these patients cannot be differentiated from neonatally asymptomatic congenital CMV brain infection. Patients manifest with psychomotor impairment, micro- or normocephaly, spasticity and in some cases also epilepsy. Brain abnormalities include multifocal white matter lesions, bilateral cysts in the anterior part of the temporal lobe, enlarged inferior horns and – as an inconsistent finding – calcifications.
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