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

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Abstract

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.

About the authors

Tatiana V. Ivlyukova

Surgut District Clinical Centre of Maternity and Childhood health care

Email: ivlukova1978@mail.ru
ORCID iD: 0000-0001-5927-6392
SPIN-code: 6454-1164
Russian Federation, Surgut

Daria D. Bugrova

Surgut State University

Author for correspondence.
Email: bugrova_dd@edu.surgu.ru
ORCID iD: 0009-0007-1304-1839
SPIN-code: 7060-8369
Russian Federation, Surgut

Alexander A. Melnikov

Petrovsky National Research Center of Surgery

Email: alexradiology@rambler.ru
ORCID iD: 0009-0008-7409-0957
SPIN-code: 2129-3238

MD, Cand. Sci. (Medicine)

Russian Federation, Moscow

Larisa D. Belotserkovtseva

Surgut District Clinical Centre of Maternity and Childhood health care; Surgut State University

Email: info@surgut-kpc.ru
ORCID iD: 0000-0001-6995-4863
SPIN-code: 2555-8470

MD, Dr. Sci. (Medicine), Professor

Russian Federation, Surgut; Surgut

Natalia V. Klimova

Surgut State University; Surgut Regional Clinical Hospital

Email: knv@mail.ru
ORCID iD: 0000-0003-4589-6528
SPIN-code: 6411-0879

MD, Dr. Sci. (Medicine), Professor

Russian Federation, Surgut; Surgut

References

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2. Fig. 1. Results of fetal cardiac ultrasound in the third trimester (28 weeks and 2 days of gestation). Elongated hyperechoic masses are visualized: a, within the interventricular septum; b, in the cavity of the left ventricle.

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3. Fig. 2. Prenatal fetal chest magnetic resonance imaging in the axial plane using a T2-weighted sequence (T2 Ax CHEST). Third trimester of pregnancy (29 weeks and 4 days of gestation). Masses with signal patterns characteristic of rhabdomyoma in the left and right ventricles of the heart (white arrows).

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4. Fig. 3. Prenatal fetal brain magnetic resonance imaging in the third trimester of pregnancy (29 weeks and 4 days of gestation): a, subependymal hypointense foci on T2-weighted imaging (black arrows); b, subependymal hyperintense foci on T1-weighted imaging (white arrows).

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5. Fig. 4. Brain magnetic resonance imaging in the patient at 2 months old: a, images acquired using an inversion recovery sequence with long T1 (FLAIR). Multiple pathological foci in the periventricular and subcortical regions (white arrows); b, T2-weighted images. Subependymal nodules show low signal intensity (black arrows), indicating calcification.

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