Congenital amaurotic family idiocy

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. 

Brouwer, B. The spleen, the liver and the brain. Proc. roy. Soc. Med. 29, 579 (1936). Brown, N. J., B. D. Corner, and M. C. H. Dodgson A second case in the same family of congenital familial cerebral lipidosis resembling amaurotic family idiocy. Arch. Dis. Child. 29, 48 (1954). 

---