[Progressive hemifacial atrophy with sympathetic nerve dysfunction of central origin].

A 37-year-old unmarried man was admitted because of gait disturbance and right hemifacial atrophy. Family history was unremarkable. He had an unconscious attack at age 13 and had writer's cramp since age 15. He was thin and lipodystrophic. In reviewing his portraits, hemifacial atrophy was considered to develop in his early teens and to be progressive since then. Pigmented gum, high arched palate, mild mental retardation, pseudo-Argyll Robertson's pupil, sexual impotence, amyotrophy of the left thigh and the right calf, and a limp due to bony abnormalities was detected. Serological tests for syphilis were negative. Bone X-rays disclosed coxa-deformance. Cerebrospinal fluid. EMG, EEG, muscle biopsy and brain CT were normal. Hearing was decreased to 20-35 dB bilaterally. Plasma norepinephrine levels were 450 pg/ml in the supine position and 539 pg/ml in standing. Plasma renin activity was 5.1-5.4 ng/ml/hr. Microneurography revealed highly accentuated muscle and skin sympathetic nerve activities. Hypothermia on the feet, reduced CVR-R and decreased mydriatic response to 5% cocaine instillation were present. Intravenous infusion of norepinephrine and intradermal injection of either acetylcholine or histamine revealed normal results. In the case, sympathicotonia due to dysfunction in the central nervous system is considered to be related to the pathogenesis of hemifacial atrophy.