A Case of Chediak-Higashi Syndrome

ABSTRACT

Chediak-Higashi syndrome is a rare autosomal recessive disease characterized by partial oculocutaneous albinism, photophobia, nystagmus, immunodeficiency with increased susceptibility to bacterial and viral infection. We experienced a 2-year old boy who presents photophobia, hypopigmentation of retinal pigment epithelium, partial cutaneous albinism, systemic findings including recurrent fever and respiratory infection, hepatosplenomegaly and pathognomic giant cytoplasmic granules in peripheral blood cells and bone marrow, and diagnosed it as a Chediak-Higashi syndrome. We present our experience of Chediak-Higashi syndrome with brief review of the literatures related to it.