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Infantile Cerebroretinal Lipidosis (Tay-Sachs Disease)
SAMUEL GARTNER, M.D.;
MELVIN BRONSTEIN, M.D.
AMA Arch Ophthalmol. 1958;59(4):584-589.
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The lipidoses are a group of disorders which have in common a disturbance of lipid metabolism. The lipidoses include Tay-Sachs disease, Niemann-Pick disease, Gaucher's disease, Hand-Schüller-Christian disease, and the xanthomatoses.
A specific lipid has been identified in Niemann-Pick's disease, sphingomyelin1; in Gaucher's disease, kerasin,2 and in Hand-Schüller-Christian disease, cholesterol. The xanthomatoses include those lipidoses in which cholesterol is the predominant lipid.3 In the infantile cerebroretinal lipidosis, Tay-Sachs disease, the lipid involved is a cerebroside, provisionally designated as Substance X, containing the characteristic amino acid neuramic acid.4
In the lipidoses the lipids accumulate in various sites, in the viscera, central nervous system, skin, and skeleton.5 A somewhat similar tissue response occurs in all the lipidoses. The lipid is ingested by phagocytes giving rise to "foam cells," in addition to a lipid degeneration of tissue cells.5 The lipids may be confined to reticular cells and histiocytes,
. . . [Full Text PDF of this Article]
Author Affiliations
New York; Yonkers, N. Y.
From the Department of Ophthalmology of the Montefiore Hospital.
Footnotes
Received for publication July 19, 1957.
Read at the Interim Congress of the Pan American Association of Ophthalmology, New York, April 8, 1957.
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