Radiological appearance of tuberous sclerosis complex: a case report and review of literature

Tuberous sclerosis complex (TSC) is a rare, auto-somal dominant, hereditary neurocutaneous syndrome, in which hamartomas develop in various organs. Cutaneous features and computed tomography (CT) findings are of great value in the diagnosis of TSC. The present study reported an unusual case of multiple organ abnormalities in a patient with TSC. Radiological findings indicated the presence of cerebral tuberous sclerosis, pulmonary lymphangioleiomyomatosis, renal angiomyolipomas, hepatic hemangioma and hamartomas, vertebral osteosclerosis, and phalangeal cysts of the fingers. TSC is a complex multisystem disorder and radiological analysis is pivotal in its diagnosis. The present study determined that, upon the development of characteristic cutaneous lesions, patients with TSC require radiological examinations, particularly CT scans, to diagnose multiple organ involvement. Furthermore, radiological examinations are useful for the early identification of TSC-associated lesions and for monitoring disease progression.