AMAUROTIC FAMILY IDIOCY AND GENERAL LIPOID DEGENERATION

Abstract

An apology might be needed for bringing this subject once more before this Association. I should hesitate to speak of my pet son if it were not that after a vigorous youth of forty years he surprised me by forming new and interesting contacts. These contacts were revealed through the work of Ludwig Pick, 1 ably seconded by Max Bielschowsky. 2 In the gradual development of these new alliances the work of Mandelbaum, 3 of Bloom 4 of Chicago, of Niemann 5 and of a number of others 6 has been helpful. The clinical features of the infantile form of amaurotic family idiocy are fortunately so well established that nothing need be added; the Tay-Sachs type has been universally accepted. Of all the cardinal symptoms, the most puzzling one, in my opinion, has been the unusual and rapid emaciation of the child. At the beginning, the majority of these children