Chediak-Higashi Syndrome in Accelerated Phase, a Case Report

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.