Comprehensive Multimodal Imaging in Tuberous Sclerosis Complex: A Case Report

Tuberous Sclerosis Complex (TSC) is an autosomal dominant disorder caused by mutations in the TSC1 (hamartin) or TSC2 (tuberin) genes, affecting multiple organ systems. A 23-year-old female presented with cosmetic concerns due to malodorous facial plaques and oral papules. Clinical examination revealed characteristic skin manifestations such as facial angiofibromas and hypomelanotic macules. Magnetic Resonance Imaging (MRI) of the brain showed subependymal and subcortical tubers with radial bands, while abdominal ultrasound and Computed Tomography (CT) scans demonstrated bilateral renal angiomyolipomas and pulmonary cystic lesions, suggesting Lymphangioleiomyomatosis (LAM). TSC impacts both children and adults, with significant variability in clinical features, even within families. Early recognition of imaging findings such as radial migration lines and renal angiomyolipomas can significantly improve outcomes. Multimodal imaging is crucial in assessing disease severity and planning appropriate management.