Introduction

The Chediak–Higashi syndrome (CHS) is a rare, autosomal recessive disorder characterized by partial oculocutaneous albinism, increased susceptibility to infections and presence of abnormal large granules in blood cells and other tissues. Most patients eventually enter a usually fatal accelerated phase manifested by fever, pancytopenia and lymphohistiocytic organ infiltrates.

This syndrome was first described in 1943 by a Cuban pediatrician in three siblings (Beguez-Cesar, 1943). Chediak (1952) and Higashi (1954) subsequently reported cases with similar anomalies. Sato (1955) recognized the similarity between Chediak and Higashi's cases and named the disease Chediak–Higashi syndrome.

CHS has been described in all ethnic groups and is usually rare except for a cluster of cases that has been described in an isolated area of the Venezuelan–Andes (Ramirez-Duque et al., 1983). A similar syndrome has been described in numerous animal species including the Aleutian mink, partial albino Hereford cattle, blue foxes, albino whales and the beige mouse. The beige mouse has been used as an animal model for the disease (Windhorst & Padgett, 1973).

Clinical manifestations

CHS commonly affects the skin, eyes, and central nervous system. The age at diagnosis ranges from 1 month to 39 years, with a mean of 5.6 years. The diagnosis is usually first suspected because of coexistent hypopigmentation and a history of frequent pyogenic infections, on the basis of a sibling in whom the diagnosis has been previously made, or after incidental observation of giant peroxidase-positive intracellular granules on a peripheral blood smear or bone marrow examination (Fig. 36.1).