TUBEROUS SCLEROSIS COMPLEX: A CASE REPORT ON CLINICAL AND IMAGING INSIGHTS

Archana*, Prakash K. Wari, Adarsh GS., Priyanka Bagewadi, Varun Wattamwar, Preeti V. Kulkarni, Venkatrao H. Kulkarni

ABSTRACT

Tuberous Sclerosis Complex (TSC) is a rare genetic condition resulting from mutations in the TSC1 or TSC2 genes, leading to abnormal cell growth and the development of benign tumours in various organs. The disorder presents with diverse clinical symptoms, primarily affecting the nervous system, skin, and other tissues. This case report discusses a patient with TSC who exhibited neurological complications, including recurrent seizures, cognitive deficits, and developmental delays, along with distinct dermatological features. The diagnosis was established through clinical assessment and imaging techniques. Treatment involved antiepileptic medications for seizure control and mTOR inhibitors to regulate disease progression. Additionally, supportive therapies were implemented to improve overall well-being. Although advancements in treatment have enhanced disease management, the unpredictable nature of TSC presents ongoing challenges. This case emphasizes the significance of early detection, personalized treatment plans, and a multidisciplinary approach in optimizing patient care

Keywords: Tuberous sclerosis complex, angiofibromas, Hypomelanotic macules, Antiepileptic drugs, mTOR inhibitors, seizure.