Chediak-Higashi Syndrome Presented with Recurrent Episodes of Diarrhea: A Case Report

Document Type: Case Report


Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran


Chediak-Higashi syndrome (CHS) is an inherited primary immunodeficiency with an autosomal recessive pattern which is usually identified by partial albinism and frequent pyogenic infections. Herein, we report the interesting case of childhood onset with the main presentation of chronic diarrhea which was treated with dexamethasone and various antibiotics for achronic fever. The patient was givenetoposide once a week and intravenous immunoglobulin monthly thereafter, which caused partial shrinkage in the size of the liver and spleen and improved the patient’s clinical condition. Since CHS is invariably lethal after entering the accelerated phase and early diagnosis may facilitate bone marrow transplantation as the only curative treatment, careful examination in unusual patients without multiple recurrent infections or diagnosed hemophagocytic lymphohistiocytosis should be considered.


1.Blume RS, Wolff SM. The Chediak-Higashi syndrome: studies in four patients and a review of the literature. Medicine. 1972 Jul;51(4):247- 80. 2.Rubin CM, Burke BA, McKenna RW, McClain KL, White JG, Nesbit ME, Jr., et al. The accelerated phase of Chediak-Higashi syndrome. An expression of the virus-associated hemophagocytic syndrome? Cancer. 1985 Aug 1;56(3):524-30. 3. Barak Y, Nir E. Chediak-Higashi syndrome. The American journal of pediatric hematology/oncology. 1987 Spring;9(1):42-55. 4. Kanjanapongkul S. Chediak-Higashi syndrome: report of a case with uncommon presentation and review literature. Journal of the Medical Association of Thailand = Chotmaihet thangphaet. 2006 Apr;89(4):541-4. 5. Ahluwalia J, Pattari S, Trehan A, Marwaha RK, Garewal G. Accelerated phase at initial presentation: an uncommon occurrence in ChediakHigashi syndrome. Pediatric hematology and oncology. 2003 Oct-Nov;20(7):563-7. 6. Haddad E, Le Deist F, Blanche S, Benkerrou M, Rohrlich P, Vilmer E, et al. Treatment of ChediakHigashi syndrome by allogenic bone marrow transplantation: report of 10 cases. Blood. 1995 Jun 1;85(11):3328-33. 7. Root RK, Rosenthal AS, Balestra DJ. Abnormal bactericidal, metabolic, and lysosomal functions of Chediak-Higashi Syndrome leukocytes. The Journal of clinical investigation. 1972 Mar;51(3):649-65. 8. Al-Herz W, Naguib KK, Notarangelo LD, Geha RS, Alwadaani A. Parental consanguinity and the risk of primary immunodeficiency disorders: report from the Kuwait National Primary Immunodeficiency Disorders Registry. International archives of allergy and immunology. 2011;154(1):76-80. 9. Rezaei N, Pourpak Z, Aghamohammadi A, Farhoudi A, Movahedi M, Gharagozlou M, et al. Consanguinity in primary immunodeficiency disorders; the report from Iranian Primary Immunodeficiency Registry. American journal of reproductive immunology. 2006 Aug;56(2):145-51. 10. Al-Nasser AA, Harfi HA, Sabbah RS, Malik SM. Chediak-Higashi syndrome: Report on five Saudi Arab children and review of the literature. Annals of Saudi medicine. 1993 Jul;13(4):321-7. 11. Pettit RE, Berdal KG. Chediak-Higashi syndrome. Neurologic appearance. Archives of neurology. 1984 Sep;41(9):1001-2. 12. Béguez César A. Neutropenia Crónica Maligna Familiarcon Granulaciones Atípicas de los Leucocitos. Bol Soc Cub Pediatr. 1943;15:900-22. 13. Chédiak M. Nouvelle anomalie leucocytaire de caractère constitutionel et familial. Rev hématologie. 1952;7:362-7. 14. Sato A. Chediak and Higashi's disease: probable identity of a new leucocytal anomaly (Chediak) and congenital gigantism of peroxidase granules (Higashi). The Tohoku journal of experimental medicine. 1955 Feb 25;61(2-3):201-10. 15. Higashi O. Congenital abnormity of peroxidase granules; a case of congenital gigantism of peroxidase granules, preliminary report. The Tohoku journal of experimental medicine. 1953 Oct 25;58(3-4):246. 16. Perou CM, Leslie JD, Green W, Li L, Ward DM, Kaplan J. The Beige/Chediak-Higashi syndrome gene encodes a widely expressed cytosolic protein. The Journal of biological chemistry. 1997 Nov 21;272(47):29790-4. 17. Burkhardt JK, Wiebel FA, Hester S, Argon Y. The giant organelles in beige and Chediak-Higashi fibroblasts are derived from late endosomes and mature lysosomes. The Journal of experimental medicine. 1993 Dec 1;178(6):1845-56. 18. Higashi O, Kagaya H, Hayashi T, Sutoh T. Alkaline phosphatase in congenital gigantism of peroxidase granules. The Tohoku journal of experimental medicine. 1956 Feb 25;63(2-3):133-6.