Neuroradiological findings in the northern epilepsy syndrome.

Abstract

Neuroradiological findings are presented of 19 patients with the northern epilepsy syndrome, a recessively inherited childhood epilepsy with associated mental deterioration. The first signs of cerebellar-brainstem atrophy already appeared in young adulthood, with atrophy tending to increase with age. Findings of cerebral atrophy were detected later: four of the seven patients under 30 years of age displayed central or cortical atrophy, while all 12 patients over 30 were affected. The degree of mental deterioration correlated well with the severity of cerebral atrophy. One half of the patients with either central or cortical atrophy were moderately to severely retarded, whereas all patients with both central and cortical atrophy were moderately to profoundly retarded.