Case Report: Everolimus in a 10-Week-Old Patient with Tuberous Sclerosis and Refractory Epilepsy

Background/Purpose: The patient manifested with refractory focal, dyscognitive, and secondary generalized tonic clonic seizures at the age of 10 weeks, with a frequency of 20 to 30 seizures per day. Diagnosis of tuberous sclerosis (TSC) was confirmed by MRI. Initial therapy with first vigabatrin (VGB), then phenobarbitone (PHE), and levetiracetam (LEV) did not reduce the high seizure frequency. High-dosage steroid therapy was not effective. Ketogenic diet was tolerated well but did not influence seizure frequency after 4 weeks with adequate ketosis. Cessation of therapy with LEV did not influence the seizure frequency.

Methods: At the age of 5 months, we started everolimus (EVE) while continuing VGB and PHE.

Results: Even at lower blood levels of EVE, the seizure frequency went down to five seizures per day and an improvement of the psycho-motor development was seen. Blood levels of EVE 9 to 15 ng/mL were possible after cessation of PHE. The patient suffers from an asymptomatic neutropenia since birth as well as an IgA deficiency. After 4 months of treatment with EVE, he has not suffered from any infection.

Conclusion: EVE was successfully used as adjunctive therapy in refractory seizures due to TSC at 5 months of age. Seizure frequency was reduced by more than 50%. EVE seems to be a treatment option even in children younger than 2 years with refractory seizures due to TSC. More studies are needed to find the optimal dosage for this age group as well as possible side effects.