Clinical aspects and main diagnostic methods of Chediak-Higashi Syndrome

Abstract

Chediak-Higashi syndrome is a disorder caused by a mutation in the LYST gene and characterized by immunodeficiency, oculocutaneous albinism, and neurological dysfunction resulting from changes in neutrophils. Homozygotes die in the first decade of life. The study is a literature review from different sources. We extracted articles published between 2000 and 2018 from SciELO, LILACS, MEDLINE (via PubMed), and Google Scholar databases. Our main objective was to report pathophysiology, clinical presentation, and the most common diagnostic methods. The syndrome affects the hematological and neurological systems, and laboratory diagnosis is first made by the presence of giant granules in leukocytes, mainly neutrophils in peripheral blood and bone marrow. A definitive diagnosis is made by cytochemical reaction (myeloperoxidase) and detection of mutation by molecular methods.