Nikolas Andre Mata-Machado*, Anna Carolina Paiva Costa T Figueiredo
Corresponding author: Nikolas Andre Mata-Machado, Department of Pediatric Neurology, University of Illinois, 1801 west Taylor Street, Suite 2E (MC 686), Chicago, IL, USA. Email: [email protected]
Received Date: Nov 21, 2019
Published Date: Dec 26, 2019
Copyright © 2019 Mata-Machado NA.
Citation: Mata-Machado NA. (2019). Everolimus for Treatment Tuberous Sclerosis Complex with Refractory Epilepsy: Management and Out Comes. A Case Report. Mathews J Cytol Histol 3(2): 13.
Tuberous sclerosis complex (TSC) is an autosomal-dominant neurocutaneous disorder characterized by multiple hamartomas and neurodevelopmental disorders. Often refractory, seizures are considered the primary cause of neurologic morbidity. Patients with TSC present Mutations of the TSC1 and TSC2 genes, in TSC patients, activates the mTOR pathway. Reduction in tumor size (SEGAs, renal angiomyolipoma) and epilepsy, lungs function and skin features (especially facial angiofibroma) has been evaluated as a benefit of mTOR inhibitors treatment. We report a case of a 5 year old girl with the features of TSC like hypomelanotic macules, facial angiofibromas, shagreen patch, refractory epilepsy and angiolipomas of the kidney, in who we started treatment with everolimus.
Keywords: mTOR Inhibitors; Epilepsy; Everolimus; Seizures; Tuberous Sclerosis complex.