Tay-Sachs disease is an autosomal recessive disorder of sphingolipid metabolism, caused by enzime hexosaminidase A deficiency that leads to an accumulation of GM2 in neurocytes which results in progressive loss of neurological function. The accumulation of lipid in retinal ganglion cells that leads to a chalk-white appearance of the fundus called " cherry red spot" is the hallmark of Tay-Sachs disease. It is also seen in others neurometabolic diseases as well as in central retinal artery occlusion. This case reports a child with Tay-Sachs disease in a family with four previous similar deaths without diagnostic.
CITATION STYLE
de Aragão, R. E. M., Ramos, R. M. G., Pereira, F. B. A., Bezerra, A. F. R., & Fernandes, D. N. (2009). “Cherry red spot” in a patient with Tay-Sachs disease: Case report. Arquivos Brasileiros de Oftalmologia, 72(4), 537–539. https://doi.org/10.1590/s0004-27492009000400019
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