The rarity of tuberous sclerosis justifies the adding of an additional case to the small group already recorded in the literature. Only 1 patient with this disease has been encountered among more than 6,000 admitted to the radiation therapy service of the Kings County Hospital.
Tuberous sclerosis is characterized by diffuse multiple nodular tumor-like accumulations of primitive glial tissue in the motor cortex of the brain. Associated with these there are other ectodermal developmental abnormalities, such as adenoma sebaceum facialis, rhabdomyoma of the cardiac muscle, embryonic muscle-like tumors in the kidney and phacomas in the retina. The histologic picture of the cortical lesions is largely an accumulation of spongioblast-like primitive glial cells. In the depth of these nodules or nests of cells may be deposits of hyaline material or calcium salts, besides many giant cells and evidence of fatty degeneration.
The classic clinical picture is the triad of progressive retardation
Friedman AB. TUBEROUS SCLEROSIS: Relief of Epileptic Symptoms by Radiation Therapy. Arch NeurPsych. 1939;41(3):565–567. doi:https://doi.org/10.1001/archneurpsyc.1939.02270150139012
Customize your JAMA Network experience by selecting one or more topics from the list below.