title: 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.
authors.affiliation: Department of Diagnostic Radiology, The Oakland University William Beaumont School of Medicine and Beaumont Hospital, 3601 West 13 Mile Road, Royal Oak, MI 48073, USA. Electronic address: akrishnan@beaumont.edu.
authors.forename: Anant
authors.initials: A
authors.lastname: Krishnan
authors.affiliation: Department of Radiology, University of Michigan Hospitals, 1500 East Medical Center Drive, UH B1 502 E, Ann Arbor, MI 48109, USA.
authors.forename: Ravi K
authors.initials: RK
authors.lastname: Kaza
authors.affiliation: Department of Radiology, University of Michigan Hospitals, 1500 East Medical Center Drive, CVC5581, Ann Arbor, MI 48109, USA.
authors.forename: Dharshan R
authors.initials: DR
authors.lastname: Vummidi
mesh_terms: D003937:Diagnosis, Differential; D019317:Evidence-Based Medicine; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods*; D014057:Tomography, X-Ray Computed / Q000379:methods*; D014402:Tuberous Sclerosis / Q000000981:diagnostic imaging* / Q000453:epidemiology / Q000235:genetics*
keywords: Angiomyolipoma; Lymphangioleiomyomatosis; MR imaging; Subependymal giant cell astrocytoma (SEGA); Tuber; Tuberous sclerosis; mTOR