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Tuberous Sclerosis

1958; Radiological Society of North America; Volume: 71; Issue: 6 Linguagem: Inglês

10.1148/71.6.833

1527-1315

William Carpenter MacCarty, D Russell,

Soft tissue tumor case studies

Tuberous sclerosis is a relatively rare familial disease. The basic disorder is a defect in development of ectodermal structures, usually with a widespread distribution involving many systems. The classical clinical triad consists of mental deficiency, epilepsy, and sebaceous adenomas of the face. Because the ectodermal structures are basically involved, it is to be expected that the central nervous system will show frequent and varied lesions. The term tuberous sclerosis is derived from Bourneville's original description of the “potato-like” nodules scattered indiscriminately throughout the cortex of the brain (2). These nodules are of a pale color, are slightly more firm than cortical substance, and range in size up to 3 cm. in diameter. Microscopic examination of the cortical masses shows giant nerve cells, proliferation of the glial elements, and large astrocytes. Other distinctly separate lesions are subependymal tumor masses, usually in the lateral ventricles. These may protrude slightly or may be of sufficient size to fill the ventricle completely. The subependymal tumors are made up predominantly of glial cells and giant astrocytes. Malignant degeneration in the form of glioma has been recorded arising in these brain nodules (7, 13, 16). Congenital tumors of the retina, called “phacomas,” are also seen. In addition to the typical sebaceous adenomas of the face, other skin lesions have been described (3) : (a) plaques of thickened skin over the lumbosacral region, termed “shagreen skin” or peau de chagrin;(b) subungual fibromas, which are small red proliferations at the border of the nails; (c) café-au-lait spots and vitiligo; (d) subcutaneous nodules resembing fibromas. Visceral lesions have been reported in almost every organ. These consist of mixed embryonal elements and are often described in terms of the predominant tissue, i.e., hemangioma, lipoma, myoma or fibroma. These tumors are common in the kidney and may become malignant, presenting as hypernephroma or liposarcoma (6, 9). An increased incidence of congenital anomalies is observed in families with tuberous sclerosis. These include harelip, polydactylism, spina bifida, and congenital heart disease. Roentgenograms of patients with tuberous sclerosis depict some fairly characteristic findings. Ross and Dickerson (15) were able to demonstrate intracranial calcification in 60 per cent of their cases. These irregular discrete areas of calcification are found occasionally within the cortical nodules and more frequently within the subependymal masses. Holt and Dickerson (8) noted rounded patches of sclerotic bone involving the inner table of the calvarium in 40 per cent of their patients. Frequently these overlie the cortical tuberous nodules. Ventriculograms often show the subependymal tumors appearing as small protrusions or large filling defects within the lateral ventricles.