Chediak-Higashi Syndrome in Accelerated Phase, a Case Report | Stephy publishers

 


Medical and Clinical case reports | Stephy publishers

Abstract
Chediak-Higashi syndrome corresponds to a series of genetic abnormalities in lysosomal transport, of autosomal recessive inheritance, characterized by partial oculocutaneous albinism and recurrent infections,1 usually between 7 and 10 years of age the accelerated phase of the disease, where developing hemophagocytic syndrome, given by a set of clinical findings, laboratory and histological studies where phagocytosis is prominent,2 with a failure in the regulation of the immune system due to an excessive production of pro-inflammatory cytokines that coexists with a dysfunction of natural killer cells and T lymphocytes, which leads to lethal development. We present a case of a 13-month-old patient, natural and from Pregonero, with a family history of consanguinity, recurrent respiratory infections, and a characteristic phenotype of Chediak-Higashi syndrome, without prior diagnosis or controls for this pathology, who presents with hemophagocytic syndrome leading to its death in 20 days.

 

Keywords: Chediak-Higashi, Hemophagocytic syndrome, Immune dysfunction


Introduction:
Chediak-Higashi syndrome corresponds to a rare, autosomal recessive pathology, which is characterized by partial oculocutaneous albinism, associated with repeated infections, there is a chromosomal alteration at the level of chromosome Xq25, CHS1 gene, located in bands 1q42-43,3 which leads to a consequent susceptibility to bacterial infections, since there is an alteration at the level of lizosomal transport and chemotaxis of neutrophils and natural killer cells1 are clinically characterized by hypopigmentation of the skin and eyes that are acquiring a coloration silvery, and which may also present: easy-onset ecchymosis, accompanied by hepatomegaly, splenomegaly, and peripheral neuropathies.4 Mutations in the CHS1 gene (LYST), located on the long arm of chromosome 1, result in a defect in granule morphogenesis in multiple tissues. This gene encodes a protein called the lysosomal traffic regulator that regulates the synthesis, transport, and fusion of cytoplasmic vesicles. The abnormalities observed in these vesicles result in highly enlarged and non-functional lysosomes, which are identified on cytology as coalescing giant azurophilic granules

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