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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...

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Detalles Bibliográficos
Autores principales: Gusman, Mariya, Servaes, Sabah, Feygin, Tamara, Degenhardt, Karl, Epelman, Monica
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2012
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.
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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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