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Eapen, M., DeLaat, C.A., Baker, K.S., Cairo, M.S., Cowan, M.J., Kurtzberg, J. and Filipovich, A.H. (2007) Hematopoietic Cell Transplantation for Chediak-Higashi Syndrome. Bone Marrow Transplantation, 39, 411-415. https://doi.org/10.1038/sj.bmt.1705600

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• TITLE: Chediak-Higashi Syndrome: A Review of 3 Cases

  AUTHORS: Hajar Boudarbala, Massilia Bouhmidi, Ayyad Ghanam, Aziza El Ouali, Maria Rkain, Abdeladim Babakhouya, Noufissa Benajiba

  KEYWORDS: Chediak-Higashi Syndrome, Albinism, Hemophagocytic Lymphoproliferation

  JOURNAL NAME: Open Access Library Journal, Vol.10 No.4, April 10, 2023

  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.