Imaging of tuberous sclerosis complex: a pictorial review
Autor(a) principal: | |
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Data de Publicação: | 2017 |
Outros Autores: | , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Radiologia Brasileira (Online) |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-39842017000100048 |
Resumo: | Abstract Tuberous sclerosis complex (TSC) is a genetically determined hamartomatous neurocutaneous disease with high phenotypic variability. TSC is characterized by widespread hamartomas and benign, or rarely malignant, neoplasms distributed in several organs throughout the body, especially in the brain, skin, retina, kidney, heart, and lung. Common manifestations include cortical tubers, subependymal nodules, white matter abnormalities, retinal abnormalities, cardiac rhabdomyoma, lymphangioleiomyomatosis, renal angiomyolipoma, and skin lesions. The wide range of organs affected by the disease implies that TSC1 and TSC2 genes play important roles in the regulation of cell proliferation and differentiation. Although recent advances in treatment have improved morbidity, the prognosis remains quite poor and nearly 40% of patients die by the age of 35 years. Imaging is important in the evaluation of TSC because of its role not only in presumptive diagnosis, but also in defining the full extent of involvement. This information allows a better understanding of the behavioural phenotype, as related to lesion location. Imaging also contributes to treatment planning. This pictorial review describes common and uncommon imaging manifestations of TSC. |
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Radiologia Brasileira (Online) |
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Imaging of tuberous sclerosis complex: a pictorial reviewTuberous sclerosisComputed tomographyMagnetic resonance imagingAbstract Tuberous sclerosis complex (TSC) is a genetically determined hamartomatous neurocutaneous disease with high phenotypic variability. TSC is characterized by widespread hamartomas and benign, or rarely malignant, neoplasms distributed in several organs throughout the body, especially in the brain, skin, retina, kidney, heart, and lung. Common manifestations include cortical tubers, subependymal nodules, white matter abnormalities, retinal abnormalities, cardiac rhabdomyoma, lymphangioleiomyomatosis, renal angiomyolipoma, and skin lesions. The wide range of organs affected by the disease implies that TSC1 and TSC2 genes play important roles in the regulation of cell proliferation and differentiation. Although recent advances in treatment have improved morbidity, the prognosis remains quite poor and nearly 40% of patients die by the age of 35 years. Imaging is important in the evaluation of TSC because of its role not only in presumptive diagnosis, but also in defining the full extent of involvement. This information allows a better understanding of the behavioural phenotype, as related to lesion location. Imaging also contributes to treatment planning. This pictorial review describes common and uncommon imaging manifestations of TSC.Publicação do Colégio Brasileiro de Radiologia e Diagnóstico por Imagem2017-02-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-39842017000100048Radiologia Brasileira v.50 n.1 2017reponame:Radiologia Brasileira (Online)instname:Colégio Brasileiro de Radiologia e Diagnóstico por Imagem (CBR)instacron:CBR10.1590/0100-3984.2016.0020info:eu-repo/semantics/openAccessvon Ranke,Felipe MussiFaria,Igor MuradZanetti,GláuciaHochhegger,BrunoSouza Jr.,Arthur SoaresMarchiori,Edsoneng2017-03-21T00:00:00Zoai:scielo:S0100-39842017000100048Revistahttps://www.scielo.br/j/rb/https://old.scielo.br/oai/scielo-oai.phpradiologiabrasileira@cbr.org.br1678-70990100-3984opendoar:2017-03-21T00:00Radiologia Brasileira (Online) - Colégio Brasileiro de Radiologia e Diagnóstico por Imagem (CBR)false |
dc.title.none.fl_str_mv |
Imaging of tuberous sclerosis complex: a pictorial review |
title |
Imaging of tuberous sclerosis complex: a pictorial review |
spellingShingle |
Imaging of tuberous sclerosis complex: a pictorial review von Ranke,Felipe Mussi Tuberous sclerosis Computed tomography Magnetic resonance imaging |
title_short |
Imaging of tuberous sclerosis complex: a pictorial review |
title_full |
Imaging of tuberous sclerosis complex: a pictorial review |
title_fullStr |
Imaging of tuberous sclerosis complex: a pictorial review |
title_full_unstemmed |
Imaging of tuberous sclerosis complex: a pictorial review |
title_sort |
Imaging of tuberous sclerosis complex: a pictorial review |
author |
von Ranke,Felipe Mussi |
author_facet |
von Ranke,Felipe Mussi Faria,Igor Murad Zanetti,Gláucia Hochhegger,Bruno Souza Jr.,Arthur Soares Marchiori,Edson |
author_role |
author |
author2 |
Faria,Igor Murad Zanetti,Gláucia Hochhegger,Bruno Souza Jr.,Arthur Soares Marchiori,Edson |
author2_role |
author author author author author |
dc.contributor.author.fl_str_mv |
von Ranke,Felipe Mussi Faria,Igor Murad Zanetti,Gláucia Hochhegger,Bruno Souza Jr.,Arthur Soares Marchiori,Edson |
dc.subject.por.fl_str_mv |
Tuberous sclerosis Computed tomography Magnetic resonance imaging |
topic |
Tuberous sclerosis Computed tomography Magnetic resonance imaging |
description |
Abstract Tuberous sclerosis complex (TSC) is a genetically determined hamartomatous neurocutaneous disease with high phenotypic variability. TSC is characterized by widespread hamartomas and benign, or rarely malignant, neoplasms distributed in several organs throughout the body, especially in the brain, skin, retina, kidney, heart, and lung. Common manifestations include cortical tubers, subependymal nodules, white matter abnormalities, retinal abnormalities, cardiac rhabdomyoma, lymphangioleiomyomatosis, renal angiomyolipoma, and skin lesions. The wide range of organs affected by the disease implies that TSC1 and TSC2 genes play important roles in the regulation of cell proliferation and differentiation. Although recent advances in treatment have improved morbidity, the prognosis remains quite poor and nearly 40% of patients die by the age of 35 years. Imaging is important in the evaluation of TSC because of its role not only in presumptive diagnosis, but also in defining the full extent of involvement. This information allows a better understanding of the behavioural phenotype, as related to lesion location. Imaging also contributes to treatment planning. This pictorial review describes common and uncommon imaging manifestations of TSC. |
publishDate |
2017 |
dc.date.none.fl_str_mv |
2017-02-01 |
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=S0100-39842017000100048 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-39842017000100048 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/0100-3984.2016.0020 |
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 |
Publicação do Colégio Brasileiro de Radiologia e Diagnóstico por Imagem |
publisher.none.fl_str_mv |
Publicação do Colégio Brasileiro de Radiologia e Diagnóstico por Imagem |
dc.source.none.fl_str_mv |
Radiologia Brasileira v.50 n.1 2017 reponame:Radiologia Brasileira (Online) instname:Colégio Brasileiro de Radiologia e Diagnóstico por Imagem (CBR) instacron:CBR |
instname_str |
Colégio Brasileiro de Radiologia e Diagnóstico por Imagem (CBR) |
instacron_str |
CBR |
institution |
CBR |
reponame_str |
Radiologia Brasileira (Online) |
collection |
Radiologia Brasileira (Online) |
repository.name.fl_str_mv |
Radiologia Brasileira (Online) - Colégio Brasileiro de Radiologia e Diagnóstico por Imagem (CBR) |
repository.mail.fl_str_mv |
radiologiabrasileira@cbr.org.br |
_version_ |
1754208939313987584 |