The pathology of Sandhoff's disease

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Abstract
The morbid anatomy of a case of Sandhoff''s disease in humans and an outline of the morphologic differences which distinguish this entity from other GM2 gangliosidoses was presented. The anatomic differences among Tay-Sachs disease and its variants are more quantitative than qualitative and are overshadowed by the similarities. If many different MCB''s [membranous cytoplasmic bodies] are encountered, the enzyme defect may be expected to differ from that of classical Tay-Sachs disease and, when seen in endothelial cells, they favor Sandhoff''s disease. If prominent visceral storage is found and especially if it extends beyond the reticuloendothelial system to involve such selective sites as the kidneys and pancreas, Sandhoff''s disease should be indicated. It is this latter point which more readily sets apart Sandhoff''s disease from related GM2 gangliosidoses.