[Bournevilles tuberous sclerosis. clinical and genetic study of 59 cases in children].
The authors have studied 59 cases of Bourneville's tuberous sclerosis, including 44 sporadic cases from healthy parents and 9 familial patients. They stress the very high frequency of spasms in the infants of less than one year (80 %), the frequency and the early appearance of retinal phakomata and areas of depigmentation and the interest in the early detection of intracranial calcification. They discuss the specificity of the individual manifestations: cutaneous, retinal and systemic and they consider the problem of genetic counselling.
D000328:Adult; D002648:Child; D005132:Eye Manifestations; D005260:Female; D006801:Humans; D008297:Male; D008423:Maternal Age; D009461:Neurologic Manifestations; D010331:Paternal Age; D014402:Tuberous Sclerosis / Q000175:diagnosis / Q000235:genetics
La sclérose Tubéruse de Bourneville. Etude clinique et génétique de 59 observations chez l'enfant