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A case of Chedia-Higashi syndrome in a seven months old male was presented. The diagnosis was suspected by albinism, nystagmus, photophobia, cervical lymphadenopathy, hepatosplenomegaly, past history of frequent infection and was confirmed by the peripheral and bone marrow findings of large purplish inclusion bodies in the cytoplasms of granulocytes and lymphocytes. A brief review of related literature was attempted. |
