Magnetic resonance imaging in prenatal diagnosis of tuberous sclerosis complex: a case report

• Published in: Digital diagnostics Vol. 6; no. 1; pp. 156 - 165
• Main Authors: Ivlyukova, Tatiana V., Bugrova, Daria D., Melnikov, Alexander A., Belotserkovtseva, Larisa D., Klimova, Natalia V.
• Format: Journal Article
• Language: English
• Published: 25.03.2025
• ISSN: 2712-8490; 2712-8962
• DOI: 10.17816/DD635481

Early detection of orphan diseases, including tuberous sclerosis complex, requires a multidisciplinary approach and the integration of new prenatal diagnostic methods, utilizing ultrasound and magnetic resonance imaging. Accumulated knowledge of the clinical manifestations of tuberous sclerosis complex and advancements in diagnostic techniques enable the identification of this condition. Magnetic resonance imaging allows for high-quality anatomical and functional imaging of the brain in various planes, improving the sensitivity and diagnostic value of the method for early (prenatal) detection of cerebral manifestations of tuberous sclerosis complex. Additionally, magnetic resonance imaging detects mediastinal masses. This highlights the need for a comprehensive approach in diagnosing tuberous sclerosis complex, with magnetic resonance imaging as the primary method for assessing the fetus’s cardiovascular and central nervous systems. This article presents a clinical case of tuberous sclerosis complex determined by intrauterine diagnosis followed by postnatal examination of the newborn and genetic confirmation of the diagnosis. This case report demonstrates the diagnostic value of magnetic resonance imaging in the prenatal diagnosis of tuberous sclerosis complex.