Chediak-Higashi Syndrome: A Review of 3 Cases

Abstract

Chediak-Higashi syndrome is a rare and life-threatening autosomal recessive disease characterized by frequent bacterial infections, bleeding tendency, oculocutaneous albinism and progressive neurological dysfunction.Here we present a series of three cases of Chediak-Higashi syndrome that were diagnosed between January 2014 and May 2022 (two cases were female and one male; aged 3.5 months to 4 years; born to first and second degree consanguineous parents).All of them presented the typical somatic and biological characteristics of this syndrome with gray hair in one case.Two cases of Chediak-Higashi were retained on bone marrow biopsy and one case on skin biopsy at the level of the scalp.Two cases were in the accelerated phase with a good response to treatment according to HLH 2004 protocol.All patients died of septic shock.