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Chediak-Higashi syndrome

Author: Mohammad Amin Vahid, MSc, 05/25/2024
Category: Laboratory Hematology > Basic cell morphology > Morphologic variants of white blood cells > Chediak-Higashi Syndrome  
Published Date: 05/28/2025

A 5-year-old female of Asian descent, exhibiting distinctive silver hair, presented with a medical history marked by persistent and recurrent respiratory infections and petechiae. The complete blood count (CBC) revealed severe neutropenia (neutrophil count: 0.11*10^3/uL), moderate anemia (Hb: 9 g/dL), and thrombocytopenia (platelet: 27*10^3/uL). Examination of the peripheral blood smear (PBS) indicated the presence of large granules in neutrophils, monocytes, and lymphocytes, as depicted in Image 1. These clinical indicators, coupled with pancytopenia, partial albinism, and an immunodeficient phenotype, are suggestive of Chediak-Higashi syndrome. To confirm partial albinism, a microscopic analysis of a hair sample from the patient was performed, revealing an irregular distribution of melanin granules in the hair shaft, a characteristic diagnostic feature in such cases, as shown in Image 2.

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