Tuberous Sclerosis Complex: Prenatal Diagnosis Using Ultrasound and Magnetic Resonance Imaging—A Report of Two Cases

Tuberous sclerosis complex (TSC) is a multiple system neurocutaneous syndrome with a genetic disorder caused by different mutations in TSC1 or TSC2. Usually, TSC causes tumors in the heart, brain, kidneys, eyes, and lungs. However, tumors can also develop in any other organs. The prenatal diagnosis...

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Autores principales: Santana, Eduardo Félix Martins, Esteves, Ana Maria Faria, Delorenzo, Daniella Guerra, Hygino, Celso, Werner, Heron, Araujo Júnior, Edward
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Thieme Medical and Scientific Publishers Pvt. Ltd. 2022
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9968546/
https://www.ncbi.nlm.nih.gov/pubmed/36855718
http://dx.doi.org/10.1055/s-0042-1758196
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author Santana, Eduardo Félix Martins
Esteves, Ana Maria Faria
Delorenzo, Daniella Guerra
Hygino, Celso
Werner, Heron
Araujo Júnior, Edward
author_facet Santana, Eduardo Félix Martins
Esteves, Ana Maria Faria
Delorenzo, Daniella Guerra
Hygino, Celso
Werner, Heron
Araujo Júnior, Edward
author_sort Santana, Eduardo Félix Martins
collection PubMed
description Tuberous sclerosis complex (TSC) is a multiple system neurocutaneous syndrome with a genetic disorder caused by different mutations in TSC1 or TSC2. Usually, TSC causes tumors in the heart, brain, kidneys, eyes, and lungs. However, tumors can also develop in any other organs. The prenatal diagnosis of TCS is based on the identification of fetal cardiac tumors by ultrasound and brain subependymal nodules, usually identified by fetal magnetic resonance imaging (MRI). We present two case reports of the prenatal diagnosis of TCS using both ultrasound and MRI, which were confirmed by clinical and radiological methods in the postnatal period accordingly.
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spelling pubmed-99685462023-02-27 Tuberous Sclerosis Complex: Prenatal Diagnosis Using Ultrasound and Magnetic Resonance Imaging—A Report of Two Cases Santana, Eduardo Félix Martins Esteves, Ana Maria Faria Delorenzo, Daniella Guerra Hygino, Celso Werner, Heron Araujo Júnior, Edward Indian J Radiol Imaging Tuberous sclerosis complex (TSC) is a multiple system neurocutaneous syndrome with a genetic disorder caused by different mutations in TSC1 or TSC2. Usually, TSC causes tumors in the heart, brain, kidneys, eyes, and lungs. However, tumors can also develop in any other organs. The prenatal diagnosis of TCS is based on the identification of fetal cardiac tumors by ultrasound and brain subependymal nodules, usually identified by fetal magnetic resonance imaging (MRI). We present two case reports of the prenatal diagnosis of TCS using both ultrasound and MRI, which were confirmed by clinical and radiological methods in the postnatal period accordingly. Thieme Medical and Scientific Publishers Pvt. Ltd. 2022-11-24 /pmc/articles/PMC9968546/ /pubmed/36855718 http://dx.doi.org/10.1055/s-0042-1758196 Text en Indian Radiological Association. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. ( https://creativecommons.org/licenses/by-nc-nd/4.0/ ) https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License, which permits unrestricted reproduction and distribution, for non-commercial purposes only; and use and reproduction, but not distribution, of adapted material for non-commercial purposes only, provided the original work is properly cited.
spellingShingle Santana, Eduardo Félix Martins
Esteves, Ana Maria Faria
Delorenzo, Daniella Guerra
Hygino, Celso
Werner, Heron
Araujo Júnior, Edward
Tuberous Sclerosis Complex: Prenatal Diagnosis Using Ultrasound and Magnetic Resonance Imaging—A Report of Two Cases
title Tuberous Sclerosis Complex: Prenatal Diagnosis Using Ultrasound and Magnetic Resonance Imaging—A Report of Two Cases
title_full Tuberous Sclerosis Complex: Prenatal Diagnosis Using Ultrasound and Magnetic Resonance Imaging—A Report of Two Cases
title_fullStr Tuberous Sclerosis Complex: Prenatal Diagnosis Using Ultrasound and Magnetic Resonance Imaging—A Report of Two Cases
title_full_unstemmed Tuberous Sclerosis Complex: Prenatal Diagnosis Using Ultrasound and Magnetic Resonance Imaging—A Report of Two Cases
title_short Tuberous Sclerosis Complex: Prenatal Diagnosis Using Ultrasound and Magnetic Resonance Imaging—A Report of Two Cases
title_sort tuberous sclerosis complex: prenatal diagnosis using ultrasound and magnetic resonance imaging—a report of two cases
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9968546/
https://www.ncbi.nlm.nih.gov/pubmed/36855718
http://dx.doi.org/10.1055/s-0042-1758196
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