"Cherry red spot" in a patient with Tay-Sachs disease: case report

Detalhes bibliográficos
Autor(a) principal: Aragão,Ricardo Evangelista Marrocos de
Data de Publicação: 2009
Outros Autores: Ramos,Régia Maria Gondim, Pereira,Felipe Bezerra Alves, Bezerra,Andreya Ferreira Rodrigues, Fernandes,Daniel Nogueira
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Arquivos brasileiros de oftalmologia (Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492009000400019
Resumo: 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.
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spelling "Cherry red spot" in a patient with Tay-Sachs disease: case reportGangliosidosis, GM2Tay-Sachs diseaseNystagmus, pathologicMacula luteaMucolipidosisHumanInfantMaleTay-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.Conselho Brasileiro de Oftalmologia2009-08-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492009000400019Arquivos Brasileiros de Oftalmologia v.72 n.4 2009reponame:Arquivos brasileiros de oftalmologia (Online)instname:Conselho Brasileiro de Oftalmologia (CBO)instacron:CBO10.1590/S0004-27492009000400019info:eu-repo/semantics/openAccessAragão,Ricardo Evangelista Marrocos deRamos,Régia Maria GondimPereira,Felipe Bezerra AlvesBezerra,Andreya Ferreira RodriguesFernandes,Daniel Nogueiraeng2009-10-06T00:00:00Zoai:scielo:S0004-27492009000400019Revistahttp://aboonline.org.br/https://old.scielo.br/oai/scielo-oai.phpaboonline@cbo.com.br||abo@cbo.com.br1678-29250004-2749opendoar:2009-10-06T00:00Arquivos brasileiros de oftalmologia (Online) - Conselho Brasileiro de Oftalmologia (CBO)false
dc.title.none.fl_str_mv "Cherry red spot" in a patient with Tay-Sachs disease: case report
title "Cherry red spot" in a patient with Tay-Sachs disease: case report
spellingShingle "Cherry red spot" in a patient with Tay-Sachs disease: case report
Aragão,Ricardo Evangelista Marrocos de
Gangliosidosis, GM2
Tay-Sachs disease
Nystagmus, pathologic
Macula lutea
Mucolipidosis
Human
Infant
Male
title_short "Cherry red spot" in a patient with Tay-Sachs disease: case report
title_full "Cherry red spot" in a patient with Tay-Sachs disease: case report
title_fullStr "Cherry red spot" in a patient with Tay-Sachs disease: case report
title_full_unstemmed "Cherry red spot" in a patient with Tay-Sachs disease: case report
title_sort "Cherry red spot" in a patient with Tay-Sachs disease: case report
author Aragão,Ricardo Evangelista Marrocos de
author_facet Aragão,Ricardo Evangelista Marrocos de
Ramos,Régia Maria Gondim
Pereira,Felipe Bezerra Alves
Bezerra,Andreya Ferreira Rodrigues
Fernandes,Daniel Nogueira
author_role author
author2 Ramos,Régia Maria Gondim
Pereira,Felipe Bezerra Alves
Bezerra,Andreya Ferreira Rodrigues
Fernandes,Daniel Nogueira
author2_role author
author
author
author
dc.contributor.author.fl_str_mv Aragão,Ricardo Evangelista Marrocos de
Ramos,Régia Maria Gondim
Pereira,Felipe Bezerra Alves
Bezerra,Andreya Ferreira Rodrigues
Fernandes,Daniel Nogueira
dc.subject.por.fl_str_mv Gangliosidosis, GM2
Tay-Sachs disease
Nystagmus, pathologic
Macula lutea
Mucolipidosis
Human
Infant
Male
topic Gangliosidosis, GM2
Tay-Sachs disease
Nystagmus, pathologic
Macula lutea
Mucolipidosis
Human
Infant
Male
description 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.
publishDate 2009
dc.date.none.fl_str_mv 2009-08-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492009000400019
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492009000400019
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S0004-27492009000400019
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv text/html
dc.publisher.none.fl_str_mv Conselho Brasileiro de Oftalmologia
publisher.none.fl_str_mv Conselho Brasileiro de Oftalmologia
dc.source.none.fl_str_mv Arquivos Brasileiros de Oftalmologia v.72 n.4 2009
reponame:Arquivos brasileiros de oftalmologia (Online)
instname:Conselho Brasileiro de Oftalmologia (CBO)
instacron:CBO
instname_str Conselho Brasileiro de Oftalmologia (CBO)
instacron_str CBO
institution CBO
reponame_str Arquivos brasileiros de oftalmologia (Online)
collection Arquivos brasileiros de oftalmologia (Online)
repository.name.fl_str_mv Arquivos brasileiros de oftalmologia (Online) - Conselho Brasileiro de Oftalmologia (CBO)
repository.mail.fl_str_mv aboonline@cbo.com.br||abo@cbo.com.br
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