Integrative Radiological and Neuropsychiatric Evaluation in Tuberous Sclerosis Complex: Bridging Imaging Findings to Behavioral Outcomes

Tuberous Sclerosis Complex (TSC) is a rare autosomal dominant genetic disorder characterized by the formation of benign tumors in multiple organs, including the brain, kidneys, heart, lungs, and skin. Mutations in TSC1 or TSC2 genes, encoding hamartin and tuberin, respectively, disrupt cell growth regulation and result in uncontrolled proliferation. Renal angiomyolipomas (AMLs), a frequent complication of TSC, pose a significant risk for hemorrhage and renal dysfunction. Other clinical manifestations include neuropsychiatric features such as epilepsy, intellectual disability, autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), and mood disorders, which can profoundly affect cognitive, behavioral, and social domains. Radiological imaging plays a crucial role in the diagnosis and management of TSC, allowing for the early detection of hallmark features such as cortical tubers, subependymal nodules, and radial migration lines. Advanced modalities like magnetic resonance imaging (MRI) not only enhance visualization of these structural abnormalities but also help establish their connection to neuropsychiatric outcomes and are essential for guiding personalized treatment approaches. When combined with behavioral assessment tools, such as the Strengths and Difficulties Questionnaire (SDQ) and the TAND Checklist, imaging contributes to a more comprehensive understanding of TSC, supporting accurate diagnosis, targeted interventions, and holistic patient care. This scientific paper underscores the importance of early detection, radiological expertise, and multidisciplinary care in mitigating the complex challenges posed by TSC. By bridging neuroimaging findings with clinical and neuropsychiatric implications, this research aims to enhance understanding and optimize outcomes for individuals living with TSC.