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.
Highlights
Tuberous sclerosis complex (TSC) is a genetically determined multisystem hamartomatous neurocutaneous disease
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[2]
Study conducted at the Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, RJ, Brazil
Summary
Tuberous sclerosis complex (TSC) is a genetically determined multisystem hamartomatous neurocutaneous disease. Imaging is important in the evaluation of TSC because of its roles in presumptive diagnosis, but in defining the full extent of involvement. The demonstration of a pathogenic mutation in the TSC1 or TSC2 gene in normal tissue is considered sufficient for the diagnosis of TSC, independent of clinical manifestations[5]. Clinical diagnostic criteria are important, because genetic testing may not identify a mutation in up to 25% of patients. The diagnosis of TSC is considered possible in the presence of one major or two or more minor features[5]
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