Seizure Management in Tuberous Sclerosis Complex with Suspected Phenytoin Toxicity: A Case Report Highlighting Therapeutic Challenges and the Role of Emerging mTOR Inhibitor Therapy
Abstract: Tuberous sclerosis complex (TSC) is a rare genetic disorder with autosomal dominant inheritance. Pathogenic variants in either TSC1 or TSC2 can result in hamartomatous lesions affecting multiple organs, including the brain, heart, kidneys, skin, lungs, and liver. We report the case of a 19-year-old woman who presented with seizures, facial angiofibromas, and hypopigmented skin lesions on her lower back. Brain magnetic resonance imaging (MRI) revealed a subependymal giant cell astrocytoma (SEGA), subependymal nodules, and cortical tubers. Abdominal ultrasonography demonstrated multiple renal angiomyolipomas and simple cysts in both kidneys. Because of financial constraints, the patient had been receiving phenytoin, a less expensive antiseizure medication, and serum phenytoin levels had not been monitored regularly. An elevated serum phenytoin concentration raised concern for phenytoin toxicity in the setting of ongoing seizures. This case highlights the diagnostic imaging features of TSC, the challenges of long-term antiseizure treatment and therapeutic drug monitoring in a resource-limited setting, and the potential role of emerging targeted therapies, including the mTOR inhibitor everolimus. It also underscores the value of multidisciplinary care, patient and family education, and access to support services.
Keywords: Tuberous sclerosis complex; facial angiofibromas; subependymal giant cell astrocytoma; renal angiomyolipomas; seizures; phenytoin toxicity; mTOR inhibitor therapy
How to Cite?: Dr. Prajwal Kishor Zore, Dr. Shrinivas Kulkarni, "Seizure Management in Tuberous Sclerosis Complex with Suspected Phenytoin Toxicity: A Case Report Highlighting Therapeutic Challenges and the Role of Emerging mTOR Inhibitor Therapy", Volume 15 Issue 10, October 2026, International Journal of Science and Research (IJSR), Pages: 651-656, https://www.ijsr.net/getabstract.php?paperid=MR261009091647, DOI: https://dx.doi.org/10.21275/MR261009091647