Patients present in the first year of life with microcephaly, seizures, and sensorineural hearing loss mimicking findings of a congenital cytomegalovirus infection but test negative for CMV. This disease primarily occurs in Central and Eastern Europeans with an autosomal recessive inheritance pattern.
On imaging these patients have cysts in the anterior temporal lobes associated with patchy deep white matter T2/FLAIR hyperintensities. Proton MRS is normal.