Three cases of the juvenile form of amaurotic family idiocy (Vogt-Spielmeyer Disease) with electroencephalographic findings

Abstract

Summary Three cases of the juvenile form of cerebral lipidosis have been described, the disease occurring in three siblings, a fourth sibling being unaffected. Consanguinity in the parents was not known to be present. The cases provide a demonstration of three stages in the progression of the disease in regard to retinal changes and visual acuity, mental deterioration, and convulsive attacks. The electroencephalograms of these patients are described and provide a further evidence that the disease process is a progressive and diffuse destruction of functioning cerebral tissue.