Musculoskeletal ImagingTuberous sclerosis
a widely occurring dysplasia of unknown pathogenesis with a classic clinical triad of epileptic seizures, mental retardation and skin lesions (
hamartomas). The disorder involves multiple organ systems and shares some characteristics with
neurofibromatosis and polyostotic
fibrous dysplasia.
The skin abnormalities include four that are considered diagnostic (adenoma sebaceum, shagreen patches, periungual fibromas and hypopigmented macules). On routine skull radiographs patchy areas of calvarial sclerosis due to hyperostosis of the inner table and prominent trabeculae in the diploic spaces may be evident. Other radiographic findings in tuberous sclerosis include evidence of raised intracranial pressure (e.g. sutural diastasis, sellar changes, increased convolutional markings), thinning adjacent to cortical tubers and intracerebral calcifications. Hamartomatous brain lesions and retinal hamartomas may also be noted. In sites other than the skull focal or diffuse medullary or cortical cystlike radiolucent areas or sclerotic deposits are common. Cortical lesions and irregular subperiosteal new bone deposition lead to the presence of an undulating cortical contour, as in the short tubular bones of the hands and feet.
Many patients with tuberous sclerosis of the brain also have rhabdomyoma of the heart. In addition, pulmonary lesions, chylothorax and pneumothorax have been reported in cases of tuberous sclerosis.
DR