A case of chediac Higashi syndrome

The patients is 6 years old girl, who was diagnosied Chediac-Higashi syndrome phase acceleration according to the following criteria:(1) Photophobia, partial oculocutaneous albinism, intermittent high febrile fine light light hair, hepatosplenomegaly (2) family past history: Consanguineous marriage (3) Giant granules within the bone marrow and peripheral blood granule leukocyte. The patient was responded to well with antibiotic, high dose C vitamin and corticoid. The diagnosis, treatment and Etiology of this sydrome are also discussed.