A case of chediac Higashi syndrome

ABSTRACT

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.