The value of CT in genetic counseling in tuberous sclerosis.
The families of two patients with known tuberous sclerosis were electively evaluated by computed tomography. The CT positive (and negative) examination proved to be valuable for the genetic counseling of family members without overt clinical manifestations of tuberous sclerosis. Two patients had evidence of smaller enhancing lesions (minimal demonstrable mass without hydrocephalus) following intravenous contrast enhancement. We, therefore, suggest the use of contrast enhanced scans in addition to the plain scans to identify what may represent occult neoplasms. Abdominal CT scans can prove useful in identifying the frequently associated renal hamartomas.
D000293:Adolescent; D000328:Adult; D001921:Brain / Q000000981:diagnostic imaging; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D008297:Male; D011856:Radiographic Image Enhancement; D014057:Tomography, X-Ray Computed; D014402:Tuberous Sclerosis / Q000000981:diagnostic imaging* / Q000235:genetics