Chédiak-Higashi syndrome. Neurologic appearance

Abstract

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.