Cytochemical and Genetic Studies in Four Cases of Chediak-Higashi-Steinbrinck Syndrome

Abstract

Genetic, morphological and cytochemical observations in 4 cases of Chediak Higashi-Steinbrinck syndrome are presented. The pattern of the syndrome in the pedigree of the families showed a Mende-lian segregation typical of a hereditary trait determined by 1 recessive gene. Morphological and cytochemical studies showed that the cyto-plasmic inclusions in granulocytes differed from the specific granules. Strong alkaline phosphatase activity was demonstrated in mature neu-trophil granulocytes of peripheral blood. Acid phosphatase activity was found in lymphocytes, located mainly around the inclusion bodies. Mitotic cells were found in the bone marrow, containing inclusions and/or large vacuoles in the cytoplasm.