A clinical study of 44 patients with juvenile amaurotic family idiocy

Abstract

The material presented comprises 44 patients with juvenile amaurotic family idiocy. The disease is distinguished from other types of gangliosidoses, and earlier clinical descriptions are reviewed. The median age of the patients at the onset of the disease was 5.8 yr and median duration of life was 18.8 yr. The disease takes 2 different courses, besides the earlier described accompanying phenomena, dystonic attack with oculogyre crises were found in some patients, and extreme cases of bradycardia. In 77% of the patients psychotic manifestations were found, chiefly in the form of frightening visual hallucination. The pathogenesis and clinical observations of the psychoses are discussed, and environmental factors are pointed out as contributing to the pathogenesis of the psychoses.