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.
Cite this paper
Boudarbala, H. , Bouhmidi, M. , Ghanam, A. , Ouali, A. E. , Rkain, M. , Babakhouya, A. and Benajiba, N. (2023). Chediak-Higashi Syndrome: A Review of 3 Cases. Open Access Library Journal, 10, e9975. doi: http://dx.doi.org/10.4236/oalib.1109975.
Rudramurthy, P. and Lokanatha, H. (2015) Syndrome de Chediak-Higashi: Une série de cas du Karnataka, en Inde. Indian Journal of Dermatology, 60, 524.
https://doi.org/10.4103/0019-5154.159662
Chouchene, S., Abderrazak, F., Hammami, S., Guediche, M.N., Jmili, N.B. and Hassine, M. (2014) La maladie de Chediak-Higashi: A propos d’un cas et revue de la literature. Hématologie, 20, 161-165. https://doi.org/10.1684/hma.2014.0948
Elevli, M., Hatipoglu, H.U., Civilibal, M., Duru, N.S. and Celkan, T. (2014) Chediak-Higashi Syndrome: A Case Report of a Girl without Silvery Hair and Oculocutaneous Albinism Presenting with Hemophagocytic Lymphohistiocytosis. Turkish Journal of Hematology, 31, 426-427. https://doi.org/10.4274/tjh.2014.0049
Introne, W., Boissy, R.E. and Gahl, W.A. (1999) Clinical, Molecular, and Cell Biological Aspects of Chediak-Higashi Syndrome. Molecular Genetics and Metabolism, 68, 283-303. https://doi.org/10.1006/mgme.1999.2927
Pujani, M., Agarwal, K., Bansal, S., et al. (2011) Chediak-Higashi Syndrome—A Report of Two Cases with Unusual Hyperpigmentation of the Face. Türk Patoloji Dergisi, 27, 246-248. https://doi.org/10.5146/tjpath.2011.01082
Palaniyandi, S., Pasupathy, U., Ravichandran, L., Rajendran, A., Suman, F.R. and Rajendra Prasad, S. (2017) Chediak-Higashi Syndrome Presenting in the Accelerated Phase. South African Journal of Child Health, 11, 104-106.
https://doi.org/10.7196/SAJCH.2017.v11i2.1277
Ganz, T., Metcalf, J.A., Gallin, J.I., Boxer, L.A. and Lehrer, R.I. (1988) Microbicidal/Cytotoxic Proteins of Neutrophils Are Deficient in Two Disorders: Chediak Higashi Syndrome and “Specific” Granule Deficiency. Journal of Clinical Investigation, 82, 552-556. https://doi.org/10.1172/JCI113631
Faigle, W., Raposo, G., Tenza, D., et al. (1998) Deficient Peptide Loading and MHC Class II Endosomal Sorting in a Human Genetic Immunodeficiency Disease: The Chediak-Higashi Syndrome. Journal of Cell Biology, 141, 1121-1134.
https://doi.org/10.1083/jcb.141.5.1121
Karim, M.A., Suzuki, K., Fukai, K., et al. (2002) Apparent Genotype-Phenotype Correlation in Childhood, Adolescent, and Adult Chediak-Higashi Syndrome. American Journal of Medical Genetics, 108, 16-22.
https://doi.org/10.1002/ajmg.10184
Kaya, Z., Ehl, S., Albayrak, M., et al. (2011) A Novel Single Point Mutation of the LYST Gene in Two Siblings with Different Phenotypic Features of Chediak Higashi Syndrome. Pediatric Blood & Cancer, 56, 1136-1139.
https://doi.org/10.1002/pbc.22878
Jessen, B., Maul-Pavicic, A., Ufheil, H., et al. (2011) Subtle Differences in CTL Cytotoxicity Determine Susceptibility to Hemophagocytic Lymphohistiocytosis in Mice and Humans with Chediak-Higashi Syndrome. Blood, 118, 4620-4629.
https://doi.org/10.1182/blood-2011-05-356113
