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Background: We report a fatal pediatric case of Chediak-Higashi syndrome (CHS) in a 4-year-old girl, initially misdiagnosed as Griscelli syndrome.
Methods: Laboratory findings showed pancytopenia (hemoglobin: 66 g/L, thrombocytopenia: 97 x 10⁹/L, leucope-nia: 2.6 x 10⁹/L) and pathognomonic dense giant cytoplasmic granules observed throughout myeloid maturation, from precursors to mature neutrophils. Eosinophils in both peripheral blood and bone marrow specimens provide morphological evidence of Chediak-Higashi syndrome, later complicated by EBV-triggered hemophagocytic lym-phohistiocytosis (HLH).
Results: The patient was definitively diagnosed with CHS. During preparation for hematopoietic stem cell transplantation (HSCT), her condition progressed to fatal HLH despite adherence to the HLH-2004 protocol, culminating in septic shock.
Conclusions: This case highlights CHS’s diagnostic challenges, the lethality of HLH, and the critical need for early HSCT before accelerated-phase onset.
DOI: 10.7754/Clin.Lab.2025.250809
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