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A Case of Chéiak-Higashi Syndrome

Journal of the Korean Pediatric Society 1995;38(7):983-987.
Published online July 15, 1995.
A Case of Chéiak-Higashi Syndrome
Soo Jin Kim1, Soo Kyung Choi1, Kyung Hee Park1, Ghee Young Jung2, Young Ok Lee3
1Department of Clinical Pathology, ST. Francisco`s General Hospital, Seoul, Korea
2Department of Pediatrics, ST. Francisco`s General Hospital, Seoul, Korea
3Department of Clinical Pathology, ST. Francisco`s General Hospital, Seoul, Korea
Chéiak - Higashi 증후군 1례
김수진1, 최수경1, 박경희1, 정귀영2, 이영옥3
1방지거병원 소아과
2방지거병원 소아과
3방지거병원 임상병리과
Abstract
Chéiak-Higashi syndrome is a rare autosomal recessive disease characterised by partial oculocutaneous albinism, frequent pyogenic infections and abnormal large lysosomal granules in leukocytes and other granule containing cells. We experienced a case of Chéiak-Higashi syndrome in a twenty days old male who show-ed partial albinism, recurrent infections and characteristic abnormal large granules in granuloc-ytes on peripheral blood smear and bone marrow biopsy. A review of literatures were also presented briefly.
Key Words: Ché, iak-Higashi syndrome, Abnormal large lysosomal granules


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