ADULT CHEDIAK-HIGASHI-SYNDROME PRESENTING AS PARKINSONISM AND DEMENTIA

Chediak-Higashi syndrome (CHS) in children can be a fatal disease. We describe the oldest known CHS patient first seen with a neurologic dis order in early adult life. From the age of 22, this 39-year-old woman developed mental deterioration, parkinsonism including resting tremor at the tongue, mandible, and hands, oculogyric crisis, muscular atroph y of limbs, and loss of tendon reflexes. MRI showed marked temporal do minant brain atrophy and diffuse spinal cord atrophy. Partial albinism , panleukocytic giant granules, and profoundly decreased NK-cell activ ity were compatible with childhood CHS, but apparently normal neutroph il function prolonged her survival. Stimulated proliferation of lympho cytes was less than 40% that of normal controls.