title: Imaging of tuberous sclerosis complex: a pictorial review.
abstract: Tuberous sclerosis complex (TSC) is a genetically determined hamartomatous neurocutaneous disease with high phenotypic variability. TSC is characterized by widespread hamartomas and benign, or rarely malignant, neoplasms distributed in several organs throughout the body, especially in the brain, skin, retina, kidney, heart, and lung. Common manifestations include cortical tubers, subependymal nodules, white matter abnormalities, retinal abnormalities, cardiac rhabdomyoma, lymphangioleiomyomatosis, renal angiomyolipoma, and skin lesions. The wide range of organs affected by the disease implies that TSC1 and TSC2 genes play important roles in the regulation of cell proliferation and differentiation. Although recent advances in treatment have improved morbidity, the prognosis remains quite poor and nearly 40% of patients die by the age of 35 years. Imaging is important in the evaluation of TSC because of its role not only in presumptive diagnosis, but also in defining the full extent of involvement. This information allows a better understanding of the behavioural phenotype, as related to lesion location. Imaging also contributes to treatment planning. This pictorial review describes common and uncommon imaging manifestations of TSC.
authors.affiliation: MD, Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, RJ, Brazil.
authors.forename: Felipe Mussi
authors.initials: FM
authors.lastname: von Ranke
authors.affiliation: MD, Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, RJ, Brazil.
authors.forename: Igor Murad
authors.initials: IM
authors.lastname: Faria
authors.affiliation: MD, PhD, Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, RJ, Brazil.
authors.forename: Gláucia
authors.initials: G
authors.lastname: Zanetti
authors.affiliation: MD, PhD, Santa Casa de Porto Alegre, Porto Alegre, RS, Brazil.
authors.forename: Bruno
authors.initials: B
authors.lastname: Hochhegger
authors.affiliation: MD, PhD, Faculdade de Medicina de São José do Rio Preto (Famerp) and Ultra X, São José do Rio Preto, SP, Brazil.
authors.forename: Arthur Soares
authors.initials: AS
authors.lastname: Souza
authors.affiliation: MD, PhD, Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, RJ, Brazil.
authors.forename: Edson
authors.initials: E
authors.lastname: Marchiori
keywords: Computed tomography; Magnetic resonance imaging; Tuberous sclerosis