The megalencephalic phase of infantile amaurotic familial idiocy; cephalometric and pneumoencephalographic studies.

Abstract

While no specific therapeutic agents have been introduced to retard the inexorable progress of amaurotic familial idiocy (Tay-Sachs' disease), adjunct measures, such as the antibiotics, have led in recent years to a protracted clinical course of this uniformly fatal infantile disorder. Thus, whereas medical texts of a few decades past mention an average life span of somewhat less than 18 months,1-3the 50 children in the presently reported series survived to an average age of 28 months. No deviation in the early disease phases of these cases was forthcoming to suggest any fundamental variant from the classical disease. All the children were normal at birth, displayed arrest of development before the 10th month of life, and followed a pattern of continued clinical deterioration, including macular degeneration, amaurosis, peripheral paralysis, and hyperacusis. It was during the protracted aspect of the disease that certain features emerged which had not been associated