Fetal Tuberous Sclerosis: Sirolimus for the Treatment of Fetal rhabdomyoma. (3rd September 2022)

• Record Type: Journal Article
• Authors: Dagge, Ana; Silva, Luísa Andrade; Jorge, Sofia; Nogueira, Estela; Rebelo, Mónica; Pinto, Luísa
• Is Part Of: Fetal and pediatric pathology. Volume 41:Number 5(2022)
• Page Start: 800
• Page End: 806
• Publication Date: 2022-09-03
• Subjects: Tuberous sclerosis -- rhabdomyoma -- fetal therapy -- sirolimus; Pathology, Molecular -- Periodicals; Pediatrics -- Periodicals; Molecular biology -- Periodicals; Pediatric pathology -- Periodicals; Fetal Diseases -- pathology -- Periodicals; Infant, Newborn, Diseases -- pathology -- Periodicals; Pediatrics -- Periodicals; 618.92007
• DOI: 10.1080/15513815.2021.1948646
• Languages: English
• ISSNs: 1551-3815

Abstract

Abstract: Background: Sirolimus constitutes a safe and effective treatment for cardiac manifestations of tuberous sclerosis complex (TSC) in children but only four cases describing prenatal treatment of rhabdomyomas with mTOR inhibitors have been published. Case: In this case, sirolimus was initiated at 26 weeks´ gestation in a pregnant woman with TSC with a fetus with a large rabdomyoma conditioning severe arrythmia. There was a significant reduction in the tumor size with ongoing treatment and a partial reversion of the arrythmia. Conclusion: m-TOR inhibitors can be considered for severe cases of fetal rhabdomyomas with poor prognosis given its potencial benefits.