Late Infantile Amaurotic Idiocy With Marked Cerebral Atrophy

Abstract

As recently as 1909, Schaffer 1 made the statement, which he has since greatly modified, that infantile amaurotic family idiocy was characterized by no macroscopic anatomic changes. Since that time a number of brains of persons with this disease showing gross changes of greater or lesser magnitude have been reported on, but these are not so numerous that observations on an additional one are without interest.Moreover, any unusual data in the realm of amaurotic idiocy are of value, since this condition occupies so important a position as the paradigm of heredodegeneration of the nervous system and as a definite anatomic species within the great group of the idiocies. This, we think, justifies adding the present report to a literature already abundant and not a little repetitious. REPORT OF CASEHistory.\p=m-\Thepatient, a boy 5 years old not of Jewish parentage, was admitted to the service of one of us (A. H. P.) at the Presbyterian Hospital, on Sept. 11, 1928. The birth of the child was normal, following a normal pregnancy, which was the mother's second. The weight at birth was 9 pounds (4,082.33 Gm.). The infant was breast fed for eight months, and the subsequent dietary history was uneventful. The child held his head up at 5 months, sat up at 8 months and walked at 1 year. He was able to say "mama" at 1 year. Nothing unusual was observed by the parents until the child was 14 months old, when without any apparent preceding illness he became fussy, lost his appetite and ceased to gain properly. During the next two weeks he stopped walking and sitting up, and from this time he did not talk. During the ensuing year both arms and legs became paralyzed, and they remained so. In the same period it became difficult to feed him because he gagged when food was put into his mouth and seemed not to be able to swallow. It was the mother's opinion that the child could see and hear. There was no history of convulsions. The child had had measles and chickenpox at 2 or 3 years.The father was 51 years old and the mother 32 ; both were well. The father had two healthy children by a previous marriage and there was one sister of the Read at a meeting of the Chicago Neurological Society, Jan. 18, 1934. From the