Clinical aspects and main diagnostic methods of Chediak-Higashi Syndrome

Poliana Paula De Oliveira,Vilma Clemi Colli

doi:10.22491/2357-9730.107792

Abstract

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

Highlights

Chediak-Higashi syndrome (CHS) is a disorder clinically characterized by oculocutaneous albinism, silver hair, photophobia[1], immune system irregularities that predispose people to recurrent infections, hemorrhagic diathesis, and progressive neurological deterioration[2,3]
Death commonly results from hemophagocytic lymphohistiocytosis (HLH)[2], which corresponds to the accelerated phase of the disease and affects about 85% of cases, being generally fatal[1,12], from infections[2], which predominantly affect the respiratory tract, gastrointestinal tract, and skin[8], with their etiology including Staphylococcus aureus and beta-hemolytic Streptococcus[3,4], and from bleeding[2]
The present study aimed to report pathological aspects, clinical profile, and main diagnostic methods related to CHS

Summary

INTRODUCTION

Chediak-Higashi syndrome (CHS) is a disorder clinically characterized by oculocutaneous albinism, silver hair, photophobia[1], immune system irregularities that predispose people to recurrent infections, hemorrhagic diathesis, and progressive neurological deterioration[2,3]. CHS symptoms are clear, occurring soon after birth or in the course of childhood, in children under 5 years of age[8,9], as a result of changes in the function of neutrophils, natural killer (NK) cells, platelets, and melanocytes[5]. It is a multisystem disease in which severe immunological defects are present – mainly in neutrophils10 –, which allows the classification of the disease as primary immunodeficiency[11]. The present study aimed to report pathological aspects, clinical profile, and main diagnostic methods related to CHS

MATERIAL AND METHODS

Findings

CONCLUSION