Tuberous sclerosis: Prenatal diagnosis, treatment and one-year follow-up. A case report
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Abstract
Background: Tuberous sclerosis, occurring in approximately 2 % of pediatric tumors, leads to anomalous masses in various organs (retina, skin, lungs, kidneys, heart, and nervous system). Cardiac rhabdomyomas and brain lesions, causing heart failure and seizures, have shown improvement with Everolimus, a cell growth inhibitor. Case report: We present a one-year-old girl with tuberous sclerosis, cardiac rhabdomyomas, and subependymal astrocytoma. The treatments were Everolimus to reduce the lesions. After one year of follow-up, the cardiac and brain lesions decreased in the echocardiograms and MRI, but presences of the arrhytmias (right bundle branch block) were managed with metoprolol and seizures were treated with phenobarbital. No renal or ophthalmological involvement was evident during the one year of follow up. Conclusion: The Everolimus treatment (an m-TOR inhibitor) reduces cardiac rhabdomyomas and subependymal astrocytoma in tuberous sclerosis, marking progress in pediatric management.
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