Sergio Cavalheiro1,2, Marcos Devanir Silva da Costa3,4, Rosana Richtmann5. 1. Department of Neurology and Neurosurgery, Universidade Federal de Sao Paulo, Rua Napoleão de Barros, 715, 6th floor, Sao Paulo, SP, 04024-001, Brazil. 2. Department of Fetal Medicine, Hospital e Maternidade Santa Joana, São Paulo, SP, Brazil. 3. Department of Neurology and Neurosurgery, Universidade Federal de Sao Paulo, Rua Napoleão de Barros, 715, 6th floor, Sao Paulo, SP, 04024-001, Brazil. marcoscostaneuro@gmail.com. 4. Department of Fetal Medicine, Hospital e Maternidade Santa Joana, São Paulo, SP, Brazil. marcoscostaneuro@gmail.com. 5. Department of Infectious Disease, Hospital e Maternidade Santa Joana, São Paulo, SP, Brazil.
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.
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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