Radiographics 2021 Nov-Dec;41(7):1992-2010. Epub 2021 Sep 17.
From the Department of Diagnostic Radiology, University of Texas MD Anderson Cancer Center, Pickens Academic Tower, 1400 Pressler St, Unit 1473, Houston, TX 77030-4009 (M.X.W., D.G.); Department of Radiology, Mayo Clinic Arizona, Scottsdale, Ariz (N.S.); Mallinckrodt Institute of Radiology, Section of Abdominal Imaging, Washington University School of Medicine, St Louis, Mo (S.B.); Department of Radiology, University of Wisconsin School of Medicine and Public Health, Madison, Wis (P.J.P., M.G.L.); and Department of Radiology, University of Texas at San Antonio, San Antonio, Tex (V.S.K.).
Tuberous sclerosis complex (TSC) is a relatively rare autosomal dominant neurocutaneous disorder secondary to mutations in the or tumor suppressor genes. Although manifestation of the classic triad of seizures, intellectual disability, and facial angiofibromas may facilitate timely diagnosis of TSC, the multisystem features that may indicate TSC in the absence of these manifestations remain highly variable. In addition, patients with TSC are at risk of developing multiple benign and malignant tumors in various organ systems, resulting in increased morbidity and mortality. Read More