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REVIEW ARTICLE
Year : 2011  |  Volume : 1  |  Issue : 1  |  Page : 39

Clinically Relevant Imaging in Tuberous Sclerosis


Department of Radiology, University of Cincinnati Medical Center, Cincinnati, OH, USA

Correspondence Address:
Sadhna Verma
University of Cincinnati Medical Center, Department of Radiology, 234 Goodman Street, PO Box 670761, Cincinnati, OH 45267-0761
USA
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2156-7514.83230

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Tuberous sclerosis (TS), also known as Bourneville disease or Bourneville-Pringle disease, is an autosomal dominant genetic disorder classically characterized by the presence of hamartomatous growths in multiple organs. TS and tuberous sclerosis complex (TSC) are different terms for the same genetic condition. Both terms describe clinical changes due to mutations involving either of the two genes named TSC1 and TSC2, which regulate cell growth. The diagnosis of TSC is established using diagnostic criteria based on clinical and imaging findings. Routine screening and surveillance of patients with TSC is needed to determine the presence and extent of organ involvement, especially the brain, kidneys, and lungs, and identify the development of associated complications. As the treatment is organ specific, imaging plays a crucial role in the management of patients with TSC.


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