Abstract: Objective To improve the understanding of Chediak-Higashi syndrome（CHS）. Methods Clinical data about 1 CHS case was reported and retrospectively analyzed with its related literature reviewed. Results The main manifestations of CHS were repeated infection,ocular and cutaneous albinism,which accelerates the manifestations of hemophagocytic syndrome,such as pancytopenia,hepatomegaly and splenomegaly.It was diagnosed depending on the presence of violet red,round and oval large granules in nucleared plasma on peripheral blood or bone marrow smear. Conclusion CHS patients usually die due to severe infection or hemorrhage.Allogeneic bone marrow transplantation can contribute to the recovery of immunologic and hematologic abnormalities,but cannot inhibit lesions in the nerve system.Since no radical therapy is available for it,prenatal diagnosis is essential.