2018 Volume 50 Issue 6 Pages 429-432
Tuberous sclerosis complex (TSC) is pathologically characterized by the presence of tumor-like lesions in multiple organ systems and central nervous system manifestations, such as epilepsy as well as intellectual and cognitive-behavioral disorders. Epilepsy in TSC appears in childhood and is often intractable. Here, we report the use of everolimus for an 8-year-old boy with TSC accompanied by subependymal giant cell astrocytoma (SEGA) who had intractable epilepsy. His epilepsy started when he was 4 years old, and he was diagnosed with TSC. Although he received antiepileptic drugs, his epilepsy continued. Furthermore, when SEGA progression was observed at an age of 8 years, everolimus treatment was administered. After the administration of everolimus, he became seizure-free. On electroencephalograms (EEGs), diffuse spike-and-waves observed before the initiation of everolimus improved to focal small spikes. His intelligence quotient (IQ), which was 77 before the initiation of everolimus, had improved to 104 after 1 year. His ADHD-RS score had improved from 15 to 3 after 3 years. Everolimus is expected to ameliorate epilepsy and improve intellectual and cognitive-behavioral manifestations. The treatment of TSC has changed by the introduction of mTOR inhibitors. For each case, symptoms including cognitive behavior manifestations should be assessed over time, and the most suitable treatment should be searched for.
