'Cherry red spot' in a patient with Tay-Sachs disease: case report.
Tay-Sachs disease is an autosomal recessive disorder of sphingolipid metabolism, caused by enzyme 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.
Aragão
Ricardo Evangelista Marrocos de
RE
Universidade de Regensburg, Alemanha.
Ramos
Régia Maria Gondim
RM
Pereira
Felipe Bezerra Alves
FB
Bezerra
Andreya Ferreira Rodrigues
AF
Fernandes
Daniel Nogueira
DN
D006801:Humans; D007223:Infant; D008266:Macula Lutea / Q000473:pathology*; D008297:Male; D009887:Ophthalmoscopy; D012164:Retinal Diseases / Q000175:diagnosis* / Q000209:etiology; D013661:Tay-Sachs Disease / Q000150:complications / Q000175:diagnosis*