Adult Chediak-Higashi Parkinsonian syndrome with dystonia

Chediak‐Higashi syndrome (CHS) is a rare autosomal‐recessive disorder characterized by immune deficiency, partial oculocutaneous albinism, and large eosinophilic, peroxidase‐positive inclusion bodies in granule‐containing cells. The adult form of CHS manifests during late childhood to early adulthood and is marked by various neurologic sequelae, including parkinsonism, dementia, spinocerebellar degeneration, and peripheral neuropathy. We report the case of a 29‐year‐old man with adult CHS who exhibited a progressive asymmetric parkinsonism, including rest tremor, and axial, cervical, and appendicular dystonia. The diagnosis was confirmed by the presence of characteristic large peroxidase‐positive granules within leukocytes and markedly decreased natural killer cell function. Levodopa/carbidopa and amantadine provided benefit for tremor. CHS, although rare, should be considered in the differential diagnosis of young adult parkinsonism.