NAVIGATING TUBEROUS SCLEROSIS IN A 41-YEAROLD PATIENT: CLINICAL INSIGHTS AND MANAGEMENT.

Introduction: 1. Tuberous sclerosis complex (TSC) is a rare genetic disorder distinguished by noncancerous growths in different parts of the body, particularly in the brain, skin, kidneys, heart, and lungs. It is caused by mutations in either the TSC1 or TSC2 genes, which interfere with the mTOR pathway. The range of symptoms associated with TSC can vary greatly, from minor skin manifestations to serious neurological complications such as epilepsy, cognitive deficits, and autism spectrum disorders. Case Nuances: The case study details a 41-year-old woman who received a belated diagnosis of TSC. She had a history of seizures over the past 26 years, with a physical examination revealing classic TSC features such as facial angiofibroma, enamel pits, and periungual flbromas. The patient also had a background of learning difficulties and common neurological symptoms of TSC. Discussion: Treatment for TSC typically targets specific symptoms, with antiepileptic medications prescribed for seizures and surgical interventions for sizable tumors. Regular monitoring is essential to detect potential complications early on. Conclusion: The case emphasizes the significance of prompt diagnosis and comprehensive care in TSC to enhance patient outcomes and well-being. Given the disease's diverse nature, regular check-ups and tailored treatment strategies are vital for effective management. [ABSTRACT FROM AUTHOR]