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Overcoming Treatment Challenges for Tuberous Sclerosis Complex (TSC): SEGA and the Future of Seizure Management
3 days ago
Guest: Darcy A. Krueger, MD, PhD
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by the systemic growth of benign, noninvasive legions. SEGAs, which are slow-growing glioneural tumors that develop near the foramen of Monro, usually develop before the age of 20 years and represent a significant morbidity and mortality burden in children and adolescents with TSC. The current standard of treatment for symptomatic SEGA is surgical resection of lesions. Asymptomatic SEGAs with growth can be treated with either surgery or therapy with the mTOR inhibitor everolimus. Because mTOR inhibition is the first pharmacotherapeutic alternative to surgery, it is important that clinicians be educated about its benefits and applications, thereby potentially improving patient quality of life and survival. Additionally, Wang and colleagues noted, “Prompt identification and treatment of seizures is an important focus in the overall management of tuberous sclerosis complex patients.” Everolimus and cannabidiol are being studied for the management of TSC-associated seizures. Given the rarity of the disease, clinicians may not be fully aware of SEGA associated with TSC, its clinical manifestations and molecular basis, or the current guidelines for diagnosis and treatment. Similarly, clinicians may not be up to date about the emerging treatment strategies for SEGA or appreciate their ...