Chédiak-Higashi syndrome: report of a case with autopsy and electron microscopic studies.

Abstract

A case of a 6‐month‐old boy with Chédiak‐Higashi syndrome was studied by autopsy and electron microscopy. Electron microscopy of leukocytes from peripheral blood and bone marrow indicated that the abnormal intracytoplasmic granules or vacuoles identifiable in light microscopy fell into 3 categories; (1) giant lysosomes; (2) autophagic vacuoles; and (3) phagocytized cells. These observations may support the recent concept that Chédiak‐Higashi syndrome is a possible lysosomal disease.Autopsy revealed various tissues of the patient infiltrated by histiocytic reticulum cells and lymphocytes, and unusual findings including an infiltration of these cells in and around the splenic trabecular veins and brain vessels as well as multifocal collections of the histiocytic cells in the brain. The histological feature of these infiltrates may represent a reactive type of histiocytic reticulosis or lympho‐histiocytosis, probably secondary to some metabolic disorder to which lysosomal dysfunctions may play an important role.