Chediak-Higashi Syndrome in Accelerated Phase Masquerading as Acute Leukemia

We present a 3-year-old female born of a consanguineous marriage with the complaints of high-grade fever, petechial spots, abdominal distension, and lymphadenopathy for 20 days. She had pallor, hypopigmented hairs, petechial rashes, and palpable lymph nodes (up to 1 cm) in the bilateral inguinal and cervical region. Systemic examination revealed hepatosplenomegaly. Her hematological profile was as follows: hemoglobin of 8.4 g/dL, normocytic normochromic red cell indices, platelet count of 11x109/L, total leukocyte count of 7x109/L with increased lymphocytes (68.5%), and lactate dehydrogenase raised at 796 IU/L. The peripheral blood smear examination revealed giant granules in neutrophils, lymphocytes, and monocytes (Figure 1). Bone marrow examination revealed similar granules in myeloid precursors with moderate hemophagocytosis. Examination of the hair shafts showed large melanin granules (Figure 2). Her liver function tests, kidney function tests, and chest X-ray results were within reference ranges. She was diagnosed with ChediakHigashi syndrome (CHS) in the accelerated phase.