Chediak-Higashi syndrome (CHS) is a rare autosomal recessive lysosomal disorder characterized by frequent infections, oculocutaneous albinism, high bleeding tendency, and various neurological symptoms. Onset in early childhood mostly leads to lymphohistiocytic infiltration into multiple organs, which is usually lethal without bone marrow transplantation. The adult form of CHS has a milder course, no lymphohistiocytic infiltration, and is characterized by neurological manifestations such as polyneuropathy, parkinsonism, dementia, and ataxia. In young adults, a combination of these defects with oculocutaneous albinism or recurrent infections should bring CHS into consideration. Diagnosis is established by the presence of characteristic eosinophilic peroxidase-positive giant granules in leukocytes. This article summarizes current knowledge about the pathogenesis, clinical course, and therapy of CHS and reports on experience with two adult CHS patients.