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Three-Year Follow-Up after Intrauterine mTOR Inhibitor Administration for Fetus with TSC-Associated Rhabdomyoma

Tuberous sclerosis complex (TSC) is a multisystem disorder characterized by seizures, neuropsychiatric disorders, and tumors of the heart, brain, skin, lungs, and kidneys. We present a three-year follow-up of a patient with TSC-associated rhabdomyoma detected in utero. Genetic examination of the fet...

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Autores principales: Maász, Anita, Bodó, Tímea, Till, Ágnes, Molnár, Gábor, Masszi, György, Labossa, Gusztáv, Herbert, Zsuzsanna, Bene, Judit, Hadzsiev, Kinga
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10454323/
https://www.ncbi.nlm.nih.gov/pubmed/37629066
http://dx.doi.org/10.3390/ijms241612886
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author Maász, Anita
Bodó, Tímea
Till, Ágnes
Molnár, Gábor
Masszi, György
Labossa, Gusztáv
Herbert, Zsuzsanna
Bene, Judit
Hadzsiev, Kinga
author_facet Maász, Anita
Bodó, Tímea
Till, Ágnes
Molnár, Gábor
Masszi, György
Labossa, Gusztáv
Herbert, Zsuzsanna
Bene, Judit
Hadzsiev, Kinga
author_sort Maász, Anita
collection PubMed
description Tuberous sclerosis complex (TSC) is a multisystem disorder characterized by seizures, neuropsychiatric disorders, and tumors of the heart, brain, skin, lungs, and kidneys. We present a three-year follow-up of a patient with TSC-associated rhabdomyoma detected in utero. Genetic examination of the fetus and the parents revealed a de novo variant in the TSC2 gene (c.3037delG, p.Asp1013IlefsTer3). Oral everolimus was initiated in the pregnant mother to regress the fetal tumor, which was successful. To the best of our knowledge, there is very little information regarding the use of everolimus therapy during pregnancy. West-syndrome was diagnosed when the proband was four months old. The symptoms were well-manageable, however temporarily. Therapy-resistant focal seizures were frequent. The patient had good vitals and was under regular cardiological control, showed a balanced circulation, and did not require any medication. Subependymal giant cell astrocytoma (SEGA) identified by regular neuroimaging examinations remained unchanged, which may be a consequence of early intrauterine treatment. Early detection of the pathogenic TSC2 variant, followed by in utero administration of everolimus and early vigabatrin therapy, allowed the detection of a milder developmental delay of the proband. Our study emphasizes how early genetic testing and management of epilepsy are pivotal for proper neurodevelopmental impacts and therapeutic strategies.
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spelling pubmed-104543232023-08-26 Three-Year Follow-Up after Intrauterine mTOR Inhibitor Administration for Fetus with TSC-Associated Rhabdomyoma Maász, Anita Bodó, Tímea Till, Ágnes Molnár, Gábor Masszi, György Labossa, Gusztáv Herbert, Zsuzsanna Bene, Judit Hadzsiev, Kinga Int J Mol Sci Case Report Tuberous sclerosis complex (TSC) is a multisystem disorder characterized by seizures, neuropsychiatric disorders, and tumors of the heart, brain, skin, lungs, and kidneys. We present a three-year follow-up of a patient with TSC-associated rhabdomyoma detected in utero. Genetic examination of the fetus and the parents revealed a de novo variant in the TSC2 gene (c.3037delG, p.Asp1013IlefsTer3). Oral everolimus was initiated in the pregnant mother to regress the fetal tumor, which was successful. To the best of our knowledge, there is very little information regarding the use of everolimus therapy during pregnancy. West-syndrome was diagnosed when the proband was four months old. The symptoms were well-manageable, however temporarily. Therapy-resistant focal seizures were frequent. The patient had good vitals and was under regular cardiological control, showed a balanced circulation, and did not require any medication. Subependymal giant cell astrocytoma (SEGA) identified by regular neuroimaging examinations remained unchanged, which may be a consequence of early intrauterine treatment. Early detection of the pathogenic TSC2 variant, followed by in utero administration of everolimus and early vigabatrin therapy, allowed the detection of a milder developmental delay of the proband. Our study emphasizes how early genetic testing and management of epilepsy are pivotal for proper neurodevelopmental impacts and therapeutic strategies. MDPI 2023-08-17 /pmc/articles/PMC10454323/ /pubmed/37629066 http://dx.doi.org/10.3390/ijms241612886 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Maász, Anita
Bodó, Tímea
Till, Ágnes
Molnár, Gábor
Masszi, György
Labossa, Gusztáv
Herbert, Zsuzsanna
Bene, Judit
Hadzsiev, Kinga
Three-Year Follow-Up after Intrauterine mTOR Inhibitor Administration for Fetus with TSC-Associated Rhabdomyoma
title Three-Year Follow-Up after Intrauterine mTOR Inhibitor Administration for Fetus with TSC-Associated Rhabdomyoma
title_full Three-Year Follow-Up after Intrauterine mTOR Inhibitor Administration for Fetus with TSC-Associated Rhabdomyoma
title_fullStr Three-Year Follow-Up after Intrauterine mTOR Inhibitor Administration for Fetus with TSC-Associated Rhabdomyoma
title_full_unstemmed Three-Year Follow-Up after Intrauterine mTOR Inhibitor Administration for Fetus with TSC-Associated Rhabdomyoma
title_short Three-Year Follow-Up after Intrauterine mTOR Inhibitor Administration for Fetus with TSC-Associated Rhabdomyoma
title_sort three-year follow-up after intrauterine mtor inhibitor administration for fetus with tsc-associated rhabdomyoma
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10454323/
https://www.ncbi.nlm.nih.gov/pubmed/37629066
http://dx.doi.org/10.3390/ijms241612886
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