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

Author:

Santana Eduardo Félix Martins1ORCID,Esteves Ana Maria Faria2ORCID,Delorenzo Daniella Guerra2ORCID,Hygino Celso3ORCID,Werner Heron3ORCID,Araujo Júnior Edward4ORCID

Affiliation:

1. Department of Woman Health, Israeli Faculty of Health Sciences Albert Einstein, São Paulo, Brazil

2. Service of Gynecology and Obstetrics, Municipal University Hospital of São Bernardo do Campo, São Bernardo do Campo, Brazil

3. Department of Fetal Medicine, Clínica de Diagnóstico por Imagem (CDPI), Rio de Janeiro, Brazil

4. Department of Obstetrics, Paulista School of Medicine - Federal University of São Paulo (EPM-UNIFESP), São Paulo, Brazil

Abstract

AbstractTuberous 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.

Publisher

Georg Thieme Verlag KG

Subject

Radiology, Nuclear Medicine and imaging

Reference13 articles.

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3. Maternal and fetal tuberous sclerosis complex: a case report questioning clinical approach;ÖS Onay;Turk J Pediatr,2020

4. [Diagnosis of cardiac rhabdomyoma in the first trimester of pregnancy];G L Cotaina;Ginecol Obstet Mex,2016

5. Diagnosis of tuberous sclerosis complex in the fetus;P Dragoumi;Eur J Paediatr Neurol,2018

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