[Oligosymptomatic presentation of tuberous sclerosis in two pedigrees].
The authors describe clinical course of tuberous sclerosis in seven family members from two pedigrees. They stress the importance of careful medical anamnesis and skin examination in family members of persons affected with tuberous sclerosis. It is pointed out that in contrast to widespread stereotype of a patient with tuberous sclerosis-a person with epilepsy, mental retardation and multiple skin and organ involvement, much more common than it was previously thought, the course of the disease may be oligosymptomatic and the affected person may properly function in society. All 7 affected persons presented in the paper were mentally normal and only two of them suffered from epilepsy.
Jóźwiak
S
S
Zespołu Neurologii Dzieciecej Centrum Zdrowia Dziecka w Warszawie.
Michałowicz
R
R
D002648:Child; D005260:Female; D006801:Humans; D007223:Infant; D010375:Pedigree; D014402:Tuberous Sclerosis / Q000175:diagnosis* / Q000235:genetics*