Family Studies in Tuberous Sclerosis

A family study was conducted to evaluate the apparently unaffected parents of 13 patients with tuberous sclerosis. None of the parents had a personal or family history suggesting the diagnosis of tuberous sclerosis. All 26 parents were examined according to a protocol that entailed medical history, physical examination (including Wood's lamp examination of the skin), funduscopic examination through a dilated pupil, roentgenograms of the hands, feet, and skull, renal ultrasound studies, and cranial computed tomography (CT). In these 13 families, three fathers and one mother had previously undiagnosed tuberous sclerosis. Three of the four had skin changes, three had calcifications shown by CT, and one had renal cysts. These data demonstrate the importance of detailed examination of all parents of patients with tuberous sclerosis before recurrence-risk counseling is given. (JAMA1983;249:1302-1304)