Akademik Veri Yönetim Sistemi
Cocuk Sagligi ve Hastaliklari Dergisi, cilt.56, sa.2, ss.82-84, 2013 (Scopus)
Chediak-Higashi syndrome is a rare autosomal recessive disorder that affects multiple systems. It is characterized by oculocutaneous partial albinism, immunodeficiency, recurrent bacterial infections, neurologic problems, and mild coagulation defects. Diagnoses are clarified with the presence of large, eosinophilic and peroxidase-positive characteristic granules in peripheral leukocytes. Most of the cases diagnosed in early childhood die as the result of lymphohistiocytic infiltration of many organs in the absence of hematopoietic stem cell transplantation. A case of Chediak-Higashi syndrome presenting with fever and diarrhea and diagnosed by peripheral blood film investigation is reported herein.