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CASE REPORT
Korean J Pediatr 1995 July;38(7) :983-987.
A Case of Chéiak-Higashi Syndrome
Soo Jin Kim (Kim SJ)1, Soo Kyung Choi (Choi SK)1, Kyung Hee Park (Park KH)1, Ghee Young Jung (Jung GY)2, Young Ok Lee (Lee YO)3
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
Copyright © 1995 by The Korean Pediatric Society
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.
Keywords: Chéiak-Higashi syndrome | Abnormal large lysosomal granules
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