Imaging of tuberous sclerosis complex: a pictorial review

Detalhes bibliográficos
Autor(a) principal: von Ranke,Felipe Mussi
Data de Publicação: 2017
Outros Autores: Faria,Igor Murad, Zanetti,Gláucia, Hochhegger,Bruno, Souza Jr.,Arthur Soares, Marchiori,Edson
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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spelling 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
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