Tay-Sachs Disease with Visceral Involvement and its Relation to Gargoylism

Abstract

There is an accumulation of clinical, neuropathological, and chemical evidence pointing to the clear separation of Tay-Sachs disease from other forms of amaurotic family idiocy. One point of distinction is the rarity of visceral lipidosis in the infantile form of the disease. We have, in fact, only been able to find reference to five cases of Tay-Sachs disease in which the neuronal lipidosis was associated with signs of a more generalized storage disease, and in some of these the evidence is not very convincing. Davison and Jacobson (1936) reported foam cells in the spleen, and vacuoles containing sudanophil lipid in the cells of the liver and renal tubules. Brouwer (1936) also found foam cells in the spleen of his case. Marburg (1942) described vacuoles in the liver which were filled with lipid staining in the same way as that in the nerx c cells. This case was unusual because of the severe atrophy and fibrosis of some of the other glandular organs. It is difficult to assess the significance of these changes as part of a primary lipidosis, and it is certainly unlikely that the lipid in the organs of these three cases was chemically identical to that stored in the neurones. The brain in Tay-Sachs disease stores large amounts of ganglioside, and an essential component of this substance is neuraminic acid. Neuraminic acid is not normally present in the spleen, liver, or kidneys, so that an accumulation of ganglioside would not be