Tuberous sclerosis: the incidence of sporadic cases versus familial cases

Abstract

In 48 families in which tuberous sclerosis occurred, extensive examination presented almost the same incidence of sporadic cases as reported in previous studies. Although inspection of the skin and cranial computed tomography seem to be the most sensitive diagnostic tests available, negative results with these methods do not exclude the diagnosis. Estimation of alpha 2-macroglobulin serum level does not mean an extension of the diagnostic arsenal.