Pictorial review of tuberous sclerosis in various organs

• Published in: Radiographics Vol. 28; no. 7; p. e32
• Main Authors: Umeoka, Shigeaki, Koyama, Takashi, Miki, Yukio, Akai, Mikio, Tsutsui, Kazushige, Togashi, Kaori
• Format: Journal Article
• Language: English
• Published: United States 01.11.2008
• Subjects: Adolescent; Adult; Female; Humans; Infant; Male; Multiple Organ Failure - diagnosis; Tomography, X-Ray Computed - methods; Tuberous Sclerosis - diagnosis; Viscera; Young Adult
• ISSN: 1527-1323
• DOI: 10.1148/rg.e32

Tuberous sclerosis is a rare autosomal dominant neurocutaneous syndrome characterized by the presence of benign congenital tumors in multiple organs. The diagnosis is usually established on the basis of diagnostic criteria applied to physical or radiologic findings. Because the classical triad of epilepsy, mental retardation, and adenoma sebaceum is uncommonly seen at clinical examination, radiologic examinations can play an important role in the diagnosis of tuberous sclerosis and in treatment. Cardiac rhabdomyoma, renal angiomyolipoma, and neurologic involvement encompassing cortical or subependymal tubers and white matter abnormalities are the common radiologic findings. Detection of these entities can be strong evidence for suspecting tuberous sclerosis. The presence of pulmonary lymphangioleiomyomatosis, multifocal micronodular pneumocyte hyperplasia, or multiple renal cysts also raises suspicion of tuberous sclerosis. Moreover, tuberous sclerosis can involve bone, liver, and the alimentary tract. The clinical course and patient prognosis depend on the sites of manifestations. Familiarity with the clinical and radiologic findings in various organs is crucial in diagnosis and treatment.