ISSN: 1300-0292
İndekslendiği Dizinler: SCIENCE CITATION INDEX EXPANDED
CINAHL, Index Copernicus,
Chemical Abstracts (CA),
Excerpta Medica / EMBASE
Dil: Türkçe, İngilizce
İçerik: Orijinal Araştırma, Derleme, Editöre Mektup, Olgu Sunumu, Tıp Eğitimi, Tıbbi Kitap İncelemeleri
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Chediak Higashi Syndrome
Doç.Dr.Bülent ZÜLFİKAR*, Dr.Mehmet AKDENİZ**, Uz.Dr.Fahri OVALI***, Uz.Dr.Nedim SAMANCI***
*İstanbul Büyükşehir Belediyesi Sağlık Daire Başkanı, Çocuk Sağlığı ve Hastalıkları Uzmanı, Pediatrik Hematolog**İstanbul Üniversitesi İstanbul Tıp Fakültesi Çocuk Sağlığı ve Hastalıkları AD***İstanbul Üniversitesi İstanbul Tıp Fakültesi Kadın Hastalıkları ve Doğum AD, Yenidoğan Ünitesi, İSTANBUL
A Chediak-Higashi Syndrome (CHS) Case: CHS was defined first in 1943. It was classified in the neutrophilic granular defect disease group. Currently, CHS is defined as the functional defect of the cell cytoplasm in the fusion of the granules. The main pathology is in the cells that contain granules which affect the whole body. Especially it is observed in hematopoietic tissues, hair, ocular pigment, skin, adrenal glands, pituitary glands, gastro-intestinal system and periferik neurons. In this study, we present a two month old Chediak Higashi syndrome case who had episodic infections, pallor, psychomotor failure, hepato-splenomegaly and oculo-cutaneous albinism. After these examinations and symptoms, we thought that it is an immunologic defect. The patognomonic large granules in the leucocytes were shown.
Keywords: Chediak-Higashi Syndrome, Acute diseases, Immunologic defect
Turkiye Klinikleri J Med Sci 1996, 16:159-163
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