Sixty patients are reported with the following syndrome: café au lait spots, dementia of variable degree, long-standing emotional imbalance, and temporal lobe dysrhythmia. Twelve of 15 patients had pneumoencephalographic demonstration of cortical atrophy; 3 were normal.
The ages ranged from 16 to 60 yr (mean, 36.5 yr) with 52 females and 8 males. All had café au lait spots with a mean of 1.5 per patient. Fifty-two patients had one or more family members with similar skin lesions and symptomatology.
Common presenting symptoms were depression, headaches, syncopal attacks, "dizzy" spells, forgetfulness, feelings of unreality, and impairment of ability to concentrate