Amaurotic Family Idiocy Tay-Sachs Disease

Infantile Amaurotic Family Idiocy (Tay-Sachs Disease) 

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Infantile Amaurotic Familial Idiocy (Tay-Sachs Disease) Gaucher s Disease Niemann-Pick Disease Leukodystrophies and Fabry s Disease... 

In contrast to the infantile type of amaurotic family idiocy (Tay-Sachs disease), none of the patients with JAFI came from Jewish families (Jervis 1959, Diezel 1962). JAFI in a Negro girl could be confirmed at autopsy. Familial occurrence was observed in the majority of reported cases. Details on the heredity of JAFI are given by Fuhrmann in a separate chapter. 

Makita, a., and T. Yamakawa The glycolipids of the brain of Tay-Sachs disease. The chemical structures of a globoside and main ganglioside. Jap. J. exp. Med. 33, 361 (1963). Marburg, G. 0. Studies on the pathology and pathogenesis of amaurotic family idiocy (Tay-Sachs disease). Amer. J. ment. Defic. 46, 312 (1942). 

In contrast, therefore, to Tay-Sachs disease, to some cases of late-infantile amaurotic family idiocy and to one case of congenital amaurotic family idiocy, there is no evidence of storage of a specific ganglioside in JAFI. The solution to yet unanswered questions may come from analyses of particularly involved areas instead of unselected parts, since, in contrast to Tay-Sachs disease, the biochemical lesion responsible for the development of JAFI, does not result in ganglioside storage which is as impressive as that observed in Tay-Sachs disease. 

The literature contains a number of cases reported as Tay-Sachs disease, late-infantile amaurotic family idiocy, congenital amaurotic family idiocy and gargoylism with foam cells in various visceral organs. While storage of gangliosides was demonstrated for a fraction of these cases the ganglioside was identified in only a few. 

A cherry-red spot in the retina has been seen by several authors. Data on its incidence vary from 20% (Crocker and Farber 1958) to over 50% (Videbaek 1949, and others). Baumann et al. (1936) found it in eight out of 27 patients and considered these cases to be a combination of NPD with Tay-Sachs disease. The sign results from the red color of the fovea being visible in the middle of a greyish-white macula it may appear at any time during the course of the disease and can occur unilaterally. Several authors (Wascowitz 1931, Rothstein and Welt 1941) differentiated these spots from those of amaurotic family idiocy on the basis of their color and shape. This is discussed in more detail by Goldstein and Wexler (1931) and by Rintelen (1935). 

Rothstein, j. L., and S. Welt Infantile amaurotic familial idiocy of lipoid metabolism. Report of two cases of Tay-Sachs disease with necropsy. Amer. J. Dis. Child. 62,801 (1941). 

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