Everolimus for Treatment Tuberous Sclerosis Complex with Refractory Epilepsy: Management and Out Comes. A Case Report

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.