RT Journal
A1 SCHEIG R, BORNSTEIN P
T1 Tuberous sclerosis in the adult: An unusual case without mental deficiency or epilepsy
JF Archives of Internal Medicine
JO Archives of Internal Medicine
YR 1961
FD November 1
VO 108
IS 5
SP 789
OP 795
DO 10.1001/archinte.1961.03620110129017
UL http://dx.doi.org/10.1001/archinte.1961.03620110129017
AB The signs and symptoms of tuberous sclerosis usually appear in infancy or early childhood with no orderly sequence of development.1 Seizures and mental deficiency may be apparent at the age of 1 or 2 years while adenoma sebaceum and other cutaneous lesions most commonly appear between the ages of 4 and 9. Sometimes patients may show a forme fruste of the disease in which some of the features are absent. The disease, which affects males more commonly than females, occurs in approximately 1:50,000 births.2 About half give a family history of mental retardation, seizures, severe psychopathic or psychotic tendencies, or characteristic skin lesions.1 Inheritance appears to be on the basis of a rare autosomal dominant gene with incomplete penetrance.3,4 Occasionally, the gene may appear as a mutant. Formes frustes are thought to be due to an independent pair of modifying genes. Although 30% of patients are