All issues > Volume 38(7); 1995

Case Report

J Korean Pediatr Soc. 1995;38(7):983-987. Published online July 15, 1995.

A Case of Chéiak-Higashi Syndrome

Soo Jin SJ Kim¹, Soo Kyung SK Choi¹, Kyung Hee KH Park¹, Ghee Young GY Jung², Young Ok YO Lee³

¹Department of Clinical Pathology, ST. Francisco`s General Hospital, Seoul, Korea
<sup>2</sup>Department of Pediatrics, ST. Francisco`s General Hospital, Seoul, Korea
³Department of Clinical Pathology, ST. Francisco`s General Hospital, Seoul, Korea

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