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Multimodal Imaging in the Prenatal Diagnosis of Tuberous Sclerosis Complex
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder in which benign hamartomas develop in multiple organ systems. Increasingly, stigmata of the disease, such as cardiac rhabdomyomas, are detected on routine prenatal ultrasound. Such a finding should prompt additional imaging studies i...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi Publishing Corporation
2012
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3467776/ https://www.ncbi.nlm.nih.gov/pubmed/23082268 http://dx.doi.org/10.1155/2012/925646 |
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author | Gusman, Mariya Servaes, Sabah Feygin, Tamara Degenhardt, Karl Epelman, Monica |
author_facet | Gusman, Mariya Servaes, Sabah Feygin, Tamara Degenhardt, Karl Epelman, Monica |
author_sort | Gusman, Mariya |
collection | PubMed |
description | Tuberous sclerosis complex (TSC) is an autosomal dominant disorder in which benign hamartomas develop in multiple organ systems. Increasingly, stigmata of the disease, such as cardiac rhabdomyomas, are detected on routine prenatal ultrasound. Such a finding should prompt additional imaging studies in order to confirm diagnosis and to identify potential complications, which vary greatly from patient to patient. Early diagnosis allows for accurate parental counseling, coordination of high-level perinatal care, and subspecialty followup. We present a case of TSC in utero wherein access to and use of multiple imaging modalities confirmed diagnosis and allowed the patient to receive optimal care prior to birth. |
format | Online Article Text |
id | pubmed-3467776 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2012 |
publisher | Hindawi Publishing Corporation |
record_format | MEDLINE/PubMed |
spelling | pubmed-34677762012-10-18 Multimodal Imaging in the Prenatal Diagnosis of Tuberous Sclerosis Complex Gusman, Mariya Servaes, Sabah Feygin, Tamara Degenhardt, Karl Epelman, Monica Case Rep Pediatr Case Report Tuberous sclerosis complex (TSC) is an autosomal dominant disorder in which benign hamartomas develop in multiple organ systems. Increasingly, stigmata of the disease, such as cardiac rhabdomyomas, are detected on routine prenatal ultrasound. Such a finding should prompt additional imaging studies in order to confirm diagnosis and to identify potential complications, which vary greatly from patient to patient. Early diagnosis allows for accurate parental counseling, coordination of high-level perinatal care, and subspecialty followup. We present a case of TSC in utero wherein access to and use of multiple imaging modalities confirmed diagnosis and allowed the patient to receive optimal care prior to birth. Hindawi Publishing Corporation 2012 2012-10-02 /pmc/articles/PMC3467776/ /pubmed/23082268 http://dx.doi.org/10.1155/2012/925646 Text en Copyright © 2012 Mariya Gusman et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Gusman, Mariya Servaes, Sabah Feygin, Tamara Degenhardt, Karl Epelman, Monica Multimodal Imaging in the Prenatal Diagnosis of Tuberous Sclerosis Complex |
title | Multimodal Imaging in the Prenatal Diagnosis of Tuberous Sclerosis Complex |
title_full | Multimodal Imaging in the Prenatal Diagnosis of Tuberous Sclerosis Complex |
title_fullStr | Multimodal Imaging in the Prenatal Diagnosis of Tuberous Sclerosis Complex |
title_full_unstemmed | Multimodal Imaging in the Prenatal Diagnosis of Tuberous Sclerosis Complex |
title_short | Multimodal Imaging in the Prenatal Diagnosis of Tuberous Sclerosis Complex |
title_sort | multimodal imaging in the prenatal diagnosis of tuberous sclerosis complex |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3467776/ https://www.ncbi.nlm.nih.gov/pubmed/23082268 http://dx.doi.org/10.1155/2012/925646 |
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