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.


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