Infantile amaurotic family idiocy

In a review by Seitelberger et al. (1957) a total of 34 cases of LIAFI have been collected. This number is now closer to 40 (Diezel 1957, Gonatas and 

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

Infantile Amaurotic Familial Idiocy (Tay-Sachs Disease)... 

Infantile amaurotic familial idiocy is a hereditary disease transmitted as an autosomal recessive trait resulting in the accumulation of gangliosides in the brain cells. The main clinical manifestations are dementia, paralysis, and blindness. The disease has been most frequently described among Jews, and it is generally restricted to children 6 months to 3 years old. However, late infantile and even juvenile forms have been described. 

The lipoid compounds that accumulate in the ganglion cells are gangliosides. In infantile amaurotic familial idiocy, the grey matter contains 10-20 times the amount of gangliosides found in normal individuals. In contrast, the levels of cerebrosides and sphingomyelins are normal. (A case has been described in which the levels of both cerebrosides and gangliosides of the brain were increased.)... 

The term gangliosides was introduced by Kjlenk for neuraminic acid-containing glycolipids which he found (1939—1942) in the brains of subjects with infantile amaurotic family idiocy. The neuraminic acid content of gangliosides permitted differentiation from other carbohydrate-containing lipids such as cere-brosides which accumulate in Gaucher s disease. 

There is no question that there is ganglioside storage in TSD. In addition, recent analyses have shown that gangliosides are also increased in the late-infantile amaurotic family idiocy. Variable findings have been reported for the juvenile form, and increased gangliosides have not yet been found in the adult variety. 

Fig. 1. Infantile amaurotic family idiocy. HE-stain. Enlargement 230-fold. Ballooned motor ganglion cell of the brain stem. (Reproduced by courtesy of Prof. P. B. Diezel)...

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. 

In the publication by Jatzkewitz and Sandhoff (1963) (see page 236) of a possible case of late-infantile amaurotic family idiocy with storage of GgntI there was also evidence of lipid storage in spleen, thymus and liver. 

M. P. Valsamis, and B. W. Volk Infantile amaurotic family idiocy. Occurrence, genetic considerations, and pathophysiology in the non-Jewish infant. Pediatrics 26, 229 (I960). 

Fredrickson, D. S. Infantile amaurotic family idiocy. In The metabolic basis of inherited disease. Eds. J. B. Stanbury, J. B. Wyngaarden and D. S.Fredrickson, p. 553. New York McGraw-Hill Book Co. 1960. 

Marburg, 0. Inclusion bodies and late fate of ganglion cells in infantile amaurotic family idiocy. Arch. Neurol. Psychiat. (Chic.) 49, 708 (1943). 

J. B. Wallace, A. Saifer, and B. W. Volk A clinical biochemical and electron microscopic study of late infantile amaurotic family idiocy. Amer. J. Med. 39, 285 (1965b). 

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). 

The detection of biochemical differences between infantile amaurotic family idiocy and the juvenile form clearly demonstrated heterogeny. 

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