As rich as the literature dealing with various types of amaurotic family idiocy undoubtedly is, new cases occasionally occur which are of such unusual and great interest that their recording is fully justified. The present case, for instance, possesses the following remarkable features: (1) the onset was late and the duration unusually long, three years and nine months; (2) the retina lacked the cherry-red spot, in the presence of all the other cardinal features of the infantile type of amaurotic family idiocy; (3) pathologically, the condition proved to be a transition from the infantile to the late infantile form and (4) it showed, in addition to typical microscopic changes, a number of macroscopic changes that might be considered equally typical.
REPORT OF CASE
Clinical Report of Case (Dr. Parmelee).—D. L. entered the Presbyterian Hospital, April 21, 1926. He was born March 7, 1923, the first child of apparently healthy young
HASSIN GB, PARMELEE AH. AMAUROTIC FAMILY IDIOCY (TAY-SACHS TYPE)A CASE WITH A PROTRACTED COURSE. Am J Dis Child. 1928;35(1):87–102. doi:10.1001/archpedi.1928.01920190094014