Tuberous sclerosis: family manifestations
Dietz, R.; Günther, H.; Weber, M.; Schanen, G.
Rontgen-Blatter; Zeitschrift für Rontgen-Technik und Medizinisch-Wissenschaftliche Photographie 43(8): 341-344
1990
ISSN/ISBN: 0300-8592 PMID: 2399418 Document Number: 363807
The authors report on 6 sisters and brothers with Bourneville's disease (tuberous sclerosis). The article describes the different morphologic manifestations of the illness in the patients and places them in relation with the generally assumed principal signs with special reference to the new imaging techniques such as cranial computed tomography and magnetic resonance imaging. These methods reveal pathognomonic patterns already very early, in association with specific clinical changes. Tuberous sclerosis must be excluded even in apparently healthy relatives by an exact diagnosis. Computed tomography is an absolutely indispensable indicator in this regard, since it is a highly sensitive method.