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Clinically Relevant Imaging in Tuberous Sclerosis

Tuberous sclerosis (TS), also known as Bourneville disease or Bourneville–Pringle disease, is an autosomal dominant genetic disorder classically characterized by the presence of hamartomatous growths in multiple organs. TS and tuberous sclerosis complex (TSC) are different terms for the same genetic...

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Detalles Bibliográficos
Autores principales: Radhakrishnan, Rupa, Verma, Sadhna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3177408/
https://www.ncbi.nlm.nih.gov/pubmed/21966635
http://dx.doi.org/10.4103/2156-7514.83230
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author Radhakrishnan, Rupa
Verma, Sadhna
author_facet Radhakrishnan, Rupa
Verma, Sadhna
author_sort Radhakrishnan, Rupa
collection PubMed
description Tuberous sclerosis (TS), also known as Bourneville disease or Bourneville–Pringle disease, is an autosomal dominant genetic disorder classically characterized by the presence of hamartomatous growths in multiple organs. TS and tuberous sclerosis complex (TSC) are different terms for the same genetic condition. Both terms describe clinical changes due to mutations involving either of the two genes named TSC1 and TSC2, which regulate cell growth. The diagnosis of TSC is established using diagnostic criteria based on clinical and imaging findings. Routine screening and surveillance of patients with TSC is needed to determine the presence and extent of organ involvement, especially the brain, kidneys, and lungs, and identify the development of associated complications. As the treatment is organ specific, imaging plays a crucial role in the management of patients with TSC.
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spelling pubmed-31774082011-10-02 Clinically Relevant Imaging in Tuberous Sclerosis Radhakrishnan, Rupa Verma, Sadhna J Clin Imaging Sci Review Article Tuberous sclerosis (TS), also known as Bourneville disease or Bourneville–Pringle disease, is an autosomal dominant genetic disorder classically characterized by the presence of hamartomatous growths in multiple organs. TS and tuberous sclerosis complex (TSC) are different terms for the same genetic condition. Both terms describe clinical changes due to mutations involving either of the two genes named TSC1 and TSC2, which regulate cell growth. The diagnosis of TSC is established using diagnostic criteria based on clinical and imaging findings. Routine screening and surveillance of patients with TSC is needed to determine the presence and extent of organ involvement, especially the brain, kidneys, and lungs, and identify the development of associated complications. As the treatment is organ specific, imaging plays a crucial role in the management of patients with TSC. Medknow Publications & Media Pvt Ltd 2011-07-27 /pmc/articles/PMC3177408/ /pubmed/21966635 http://dx.doi.org/10.4103/2156-7514.83230 Text en Copyright: © 2011 Radhakrishnan R. http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Review Article
Radhakrishnan, Rupa
Verma, Sadhna
Clinically Relevant Imaging in Tuberous Sclerosis
title Clinically Relevant Imaging in Tuberous Sclerosis
title_full Clinically Relevant Imaging in Tuberous Sclerosis
title_fullStr Clinically Relevant Imaging in Tuberous Sclerosis
title_full_unstemmed Clinically Relevant Imaging in Tuberous Sclerosis
title_short Clinically Relevant Imaging in Tuberous Sclerosis
title_sort clinically relevant imaging in tuberous sclerosis
topic Review Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3177408/
https://www.ncbi.nlm.nih.gov/pubmed/21966635
http://dx.doi.org/10.4103/2156-7514.83230
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