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Case Report

Soo Jin Kim, Soo Kyung Choi, Kyung Hee Park, Ghee Young Jung, Young Ok Lee

Clin Exp Pediatr. 1995;38(7):983-987. Published online July 15, 1995

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...

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