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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...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Medknow Publications & Media Pvt Ltd
2011
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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. |
format | Online Article Text |
id | pubmed-3177408 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2011 |
publisher | Medknow Publications & Media Pvt Ltd |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT radhakrishnanrupa clinicallyrelevantimagingintuberoussclerosis AT vermasadhna clinicallyrelevantimagingintuberoussclerosis |