Abstract Details

Everolimus, an mTOR inhibitor, has shown good response in Tuberous Sclerosis patients by reducing tumor growth and treating intractable epilepsy. It directly addresses the underlying pathophysiology of Tuberous Sclerosis unlike other antiepileptic drugs. This, combined with lesser incidence of side effects, improves the quality of life significantly. 

To describe a case of a 26-year-old patient with Tuberous Sclerosis and Refractory Epilepsy with improved seizure control after adding Everolimus. 

Case Report

26-year-old lady was diagnosed with Tuberous Sclerosis in infancy. Her disease course was complicated by refractory epilepsy and neuro-psychiatric manifestations since childhood. She suffered both complex partial seizures and generalized tonic clonic seizures. She failed treatment with the multiple antiepileptic drugs including Valproate, Carbamazepine, Lamotrigine and Levetiracetam. She was on Phenytoin and brivaracetam when she presented to us and was experiencing 5-6 seizures per month. She had adverse side-effects of phenytoin including gingival hyperplasia requiring multiple dental surgeries. Family was reluctant to change phenytoin as it gave her the best seizure freedom. MRI brain showed multiple cortical tubers and subependymal nodules in the lateral ventricles. She was then started on Everolimus which resulted in a significant reduction in seizures to 1-2 per month. She tolerated Everolimus well with nausea being the only side effect. Reassured by the decrease in seizure frequency after starting Everolimus, family later agreed to change phenytoin to lacosamide which resulted in further improvement in quality of life.

Everolimus has been shown to be of tremendous benefit to Tuberous Sclerosis patients, both in reducing tumor size as well as a treatment for intractable epilepsy. Physicians should consider the use of Everolimus as an adjunctive treatment for refractory epilepsy in patients with Tuberous sclerosis to help decrease seizure burden and improve quality of life.