Chédiak-Higashi syndrome is characterized by impaired lysis of phagocytized bacteria, resulting in recurrent bacterial respiratory and other infections and oculocutaneous albinism.

Chédiak-Higashi syndrome is rare. Inheritance is autosomal recessive. The syndrome is caused by a mutation in a gene that regulates intracellular protein trafficking. Giant lysosomal granules develop in neutrophils and other cells (eg, melanocytes, neural Schwann cells). The abnormal lysosomes cannot fuse with phagosomes, so ingested bacteria cannot be lysed normally.

Clinical findings include oculocutaneous albinism and susceptibility to recurrent respiratory and other infections. In about 85% of patients, an accelerated phase occurs, causing fever, jaundice, hepatosplenomegaly, lymphadenopathy, pancytopenia, bleeding diathesis, and neurologic changes. Once the accelerated phase occurs, the syndrome is usually fatal within 30 mo.

A peripheral blood smear is examined for giant granules in neutrophils and other cells; a bone marrow smear is examined for giant inclusion bodies in leukocyte precursor cells.

Transplantation of unfractionated HLA-identical bone marrow after pretransplantation cytoreductive chemotherapy may be curative.

Last full review/revision September 2008 by Rebecca H. Buckley, MD