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Chediak Higashi syndrome in accelerated phase

Chediak Higashi syndrome in accelerated phase
#00061666
Author: Reena Das; Rajkumari Banashree Rani
Category: Primary Immunodeficiency (PID) > Other immunodeficiencies > Immunodeficiency with Albinism > Chediak-Higashi Syndrome
Published Date: 07/10/2018

A 2-year-old male presented with fever, jaundice, patchy hypo/hyperpigmentation and hepatosplenomegaly with a clinical diagnosis of Chediak-Higashi syndrome with hemophagocytosis and bicytopenia which led to a bone marrow biopsy.

A. Peripheral blood film showing large abnormal granules in neutrophils and lymphocytes; B. Bone marrow aspirate showing hemophagocytosis in a large histiocyte; C. Bone marrow aspirate showing giant cytoplasmic inclusions in leukocytes and hemophagocytosis; D. Comparison of normal hair and patient hair showing depigmentation and thin hair.