Cross-sectional Imaging Review of Tuberous Sclerosis

Abstract

Tuberous sclerosis complex (TSC) is a multisystem, genetic disorder characterized by development of hamartomas in the brain, abdomen, and thorax. It results from a mutation in one of 2 tumor suppressor genes that activates the mammalian target of rapamycin pathway. This article discusses the origins of the disorder, the recently updated criteria for the diagnosis of TSC, and the cross-sectional imaging findings and recommendations for surveillance. Familiarity with the diverse radiological features facilitates diagnosis and helps in treatment planning and monitoring response to treatment of this multisystem disorder.

Keywords: Angiomyolipoma; Lymphangioleiomyomatosis; MR imaging; Subependymal giant cell astrocytoma (SEGA); Tuber; Tuberous sclerosis; mTOR.