The radiological appearances of tuberous sclerosis

Abstract

Tuberous sclerosis is an autosomal dominant disorder often associated with a chromosome 9 abnormality, although up to 60% of cases occur spontaneously. The incidence of the disorder is between 1/100,000 and 1/10,000, and it leads to multiple organ and skeletal abnormalities. The classical triad of epilepsy, mental retardation and adenoma sebaceum defines the syndrome clinically. Other cutaneous associations include shagreen patches, ash leaf-shaped areas of depigmentation, subungual fibromas and café-au-lait spots. This review describes the commoner radiological manifestations of the syndrome, and briefly mentions the rarer associations that have been reported to date.