Çocuk Sağlığı ve Hastalıkları Dergisi
2013 , Vol 56 , Num 2
Chediak-Higashi syndrome: a case report
Atatürk Üniversitesi Tıp Fakültesi 1Pediatri Yardımcı Doçenti, 2 Pediatri Asistanı, 3Pediatri Profesörü
*İletişim: drzuhalk@hotmail.com
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.
Anahtar Kelimeler :
Chediak-Higashi sendromu, iri sitoplazmik granüller,
hipopigmentasyon.