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01-12-2021 | Tuberous Sclerosis | Case Report

Everolimus as a possible prenatal treatment of in utero diagnosed subependymal lesions in tuberous sclerosis complex: a case report

Authors: Sergio Cavalheiro, Marcos Devanir Silva da Costa, Rosana Richtmann

Published in: Child's Nervous System | Issue 12/2021

Abstract

Introduction

The association between cardiac rhabdomyoma and intraventricular tumors and/or subcortical nodules is characteristic of tuberous sclerosis complex (TSC). Patients with TSC may have refractory seizures, autistic behavior, and cognitive decline.

Case report

The patient received the fetal diagnosis of TSC at the age of 19 weeks of gestations, where presented at prenatal ultrasound cardiac and brain tumors. Fetal MRI showed a lesion in the right and left lateral ventricles near the foramen of Monro associated with subependymal lesions along the entire ependyma of the lateral ventricles and several subcortical tubercles, and the fetal Doppler echocardiogram revealed three cardiac lesions. The fetus underwent intrauterine treatment with everolimus and presented regression and subsequent stabilization of the cardiac and brain lesions; additionally, the patient did not develop seizures or autism and presented good neuropsychomotor development.

Conclusion

It is the first evidence that mTOR inhibitors may help to prevent neurological complications associated with TSC.

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Title: Everolimus as a possible prenatal treatment of in utero diagnosed subependymal lesions in tuberous sclerosis complex: a case report
Authors: Sergio Cavalheiro
Marcos Devanir Silva da Costa
Rosana Richtmann
Publication date: 01-12-2021
Publisher: Springer Berlin Heidelberg
Keywords: Tuberous Sclerosis
Brain Tumor
Fetal Magnetic Resonance Imaging
Everolimus
Cytostatic Therapy
mTOR-Inhibitors
Published in: Child's Nervous System / Issue 12/2021
Print ISSN: 0256-7040
Electronic ISSN: 1433-0350
DOI: https://doi.org/10.1007/s00381-021-05218-4

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Everolimus as a possible prenatal treatment of in utero diagnosed subependymal lesions in tuberous sclerosis complex: a case report

Abstract

Introduction

Case report

Conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Introduction

Case report

Conclusion

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