Abstract: Objective　To explore the clinical features and prognosis of Chediak-Higashi syndrome. Method　The clinical data of Chediak-Higashi syndrome in a child were retrospectively analyzed and the related literature were reviewed. Results　A one-yearold boy presented with fever, localized albinism, hepatosplenomegaly and panhematopenia. Blood smear showed the inclusion body in some neutrophils and lymphocytes, and multiple inclusion bodies were observed in a neutrophil. Bone marrow examination revealed large abnormal granules in the cytoplasm of some neutrophils. Genetic testing revealed that the LYST gene had a homozygous mutation, c.2311C>T (the nucleotide number 2311 in the coding region changed from cytosine to thymine), resulting in the change in amino acid (p.Q771X, nonsense mutation). The inheritance pattern was autosomal recessive inheritance, and the disease phenotype was congenital leukocyte granular abnormal syndrome. Conclusion　Chediak-Higashi syndrome is a rare autosomal recessive hereditary disease with a poor prognosis. The diagnosis relies mainly on bone marrow examination and genetic testing.