Chediak-Higashi Syndrome

Abstract

Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder of children and characterized by variable degrees of partial oculocutaneous albinism, increased susceptibility to recurrent pyogenic and respiratory tract infections with neutropaenia, impaired chemotaxis and bactericidal activity, and bleeding tendency as a result of deficient platelets. The hallmark of CHS is the presence of giant cytoplasmic granules in circulating granulocytes and many other type of cells. The CHS usually leads to death at a young age. We report a girl patient with CHS who has admitted to our hospital because of fever, cough, abdominal pain and diarrhea due to a rare condition.