Amaurotic family idiocy has rarely been described in Brazilian literature. The infantile form of the disease was studied and described by Julião, Magalhães and Brandi. Marques1 (1943) reviewed the subject and presented a case characterized by amaurosis, atrophy of the optic nerve, pigmentary retinosis, muscular hypotonia, convulsions, mental regression and the added stigma of spina bifida. The purpose of this paper is to present a case of amaurotic family idiocy in which diagnosis was possible only after careful histologic study.
REPORT OF CASE
The patient was first seen in the neurologic clinic of the Getulio Vargas Hospital at the age of 17 years. After preliminary examination, he was admitted to the hospital, with well defined signs of a dystonic syndrome, characterized by slow and spasmodic twitching of the face, spasmodic twitching of the trunk and neck and slow and spasmodic hyperkinetic movements of both the upper and the lower