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DOI: 10.1055/s-0042-1758196
Tuberous Sclerosis Complex: Prenatal Diagnosis Using Ultrasound and Magnetic Resonance Imaging—A Report of Two Cases
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.
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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 12 Baron Y, Barkovich AJ. MR imaging of tuberous sclerosis in neonates and young infants. AJNR Am J Neuroradiol 1999; 20 (05) 907-916
- 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