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CC BY-NC-ND 4.0 · Indian J Radiol Imaging 2023; 33(01): 113-116
DOI: 10.1055/s-0042-1758196
Case Report

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

Eduardo Félix Martins Santana 
1   Department of Woman Health, Israeli Faculty of Health Sciences Albert Einstein, São Paulo, Brazil
,
Ana Maria Faria Esteves 
2   Service of Gynecology and Obstetrics, Municipal University Hospital of São Bernardo do Campo, São Bernardo do Campo, Brazil
,
Daniella Guerra Delorenzo 
2   Service of Gynecology and Obstetrics, Municipal University Hospital of São Bernardo do Campo, São Bernardo do Campo, Brazil
,
Celso Hygino 
3   Department of Fetal Medicine, Clínica de Diagnóstico por Imagem (CDPI), Rio de Janeiro, Brazil
,
Heron Werner 
3   Department of Fetal Medicine, Clínica de Diagnóstico por Imagem (CDPI), Rio de Janeiro, Brazil
,
Edward Araujo Júnior 
4   Department of Obstetrics, Paulista School of Medicine - Federal University of São Paulo (EPM-UNIFESP), São Paulo, Brazil
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Abstract

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.

Keywords

prenatal diagnosis - tuberous sclerosis complex - ultrasound - magnetic resonance imaging


Publication History

Article published online:
24 November 2022

© 2022. 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/)

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  • References

  • 1 Wang CC, Wang CY, Lai YJ, Chang TY, Su HY. Prenatal diagnosis of tuberous sclerosis complex using fetal ultrasonography and magnetic resonance imaging and genetic testing. Taiwan J Obstet Gynecol 2018; 57 (01) 163-165
    CrossrefPubMedGoogle Scholar
  • 2 Sharma N, Sharma S, Thiek JL, Ahanthem SS, Kalita A, Lynser D. Maternal and fetal tuberous sclerosis: do we know enough as an obstetrician?. J Reprod Infertil 2017; 18 (02) 257-260
    PubMedGoogle Scholar
  • 3 Onay ÖS, Sağlık AÇ, Köşger P. et al. Maternal and fetal tuberous sclerosis complex: a case report questioning clinical approach. Turk J Pediatr 2020; 62 (02) 332-337
    CrossrefPubMedGoogle Scholar
  • 4 Cotaina GL, Lázaro GE, Jiménez MI, Savirón CR, Lerma PD. [Diagnosis of cardiac rhabdomyoma in the first trimester of pregnancy]. Ginecol Obstet Mex 2016; 84 (03) 180-185
    PubMedGoogle Scholar
  • 5 Dragoumi P, O'Callaghan F, Zafeiriou DI. Diagnosis of tuberous sclerosis complex in the fetus. Eur J Paediatr Neurol 2018; 22 (06) 1027-1034
    CrossrefPubMedGoogle Scholar
  • 6 Goel R, Aggarwal N, Lemmon ME, Bosemani T. Fetal and maternal manifestations of tuberous sclerosis complex: value of fetal MRI. Neuroradiol J 2016; 29 (01) 57-60
    CrossrefPubMedGoogle Scholar
  • 7 Zhou Y, Dong SZ, Zhong YM, Sun AM. Prenatal and postnatal diagnosis of rhabdomyomas and tuberous sclerosis complex by ultrafast and standard MRI. Indian J Pediatr 2018; 85 (09) 729-737
    CrossrefPubMedGoogle Scholar
  • 8 Sarafidis PA, Bikos A, Loutradis C. et al. Diagnosis of tuberous sclerosis complex in a patient referred for uncontrolled hypertension and renal dysfunction: a case highlighting the importance of proper diagnostic work-up of hypertensive patients. J Hypertens 2017; 35 (10) 2109-2114
    CrossrefPubMedGoogle Scholar
  • 9 Ornoy A, Weinstein-Fudim L, Ergaz Z. Genetic syndromes, maternal diseases and antenatal factors associated with autism spectrum disorders (ASD). Front Neurosci 2016; 10: 316
    CrossrefPubMedGoogle Scholar
  • 10 Mongrain V, van Doesburg NH, Rypens F. et al. A case report of severe tuberous sclerosis complex detected in utero and linked to a novel duplication in the TSC2 gene. BMC Neurol 2020; 20 (01) 324
    CrossrefPubMedGoogle Scholar
  • 11 Sonigo P, Elmaleh A, Fermont L, Delezoíde AL, Mirlesse V, Brunelle F. Prenatal MRI diagnosis of fetal cerebral tuberous sclerosis. Pediatr Radiol 1996; 26 (01) 1-4
    CrossrefPubMedGoogle Scholar
  • 12 Baron Y, Barkovich AJ. MR imaging of tuberous sclerosis in neonates and young infants. AJNR Am J Neuroradiol 1999; 20 (05) 907-916
    PubMedGoogle Scholar
  • 13 Chen CP, Liu YP, Huang JK. et al. Contribution of ultrafast magnetic resonance imaging in prenatal diagnosis of sonographically undetected cerebral tuberous sclerosis associated with cardiac rhabdomyomas. Prenat Diagn 2005; 25 (06) 523-524
    CrossrefPubMedGoogle Scholar