Chédiak-Higashi syndrome. Neurologic appearance.
A 25-year-old man was first seen with a neurologic disorder that resembled a spinocerebellar degeneration and parkinsonism. A peripheral smear revealed the characteristic peroxidase-positive panleukocytic granules associated with the Chédiak-Higashi syndrome. He did not have any associated oculocutaneous abnormalities. The Chédiak-Higashi syndrome may appear primarily with neurologic dysfunction and should be considered in a differential diagnosis of children and young adults first seen with a spinocerebellar degeneration or movement disorder.
D000328:Adult; D002609:Chediak-Higashi Syndrome / Q000175:diagnosis* / Q000188:drug therapy; D006801:Humans; D008297:Male; D009422:Nervous System Diseases / Q000175:diagnosis* / Q000188:drug therapy