| 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 |
|
PDF Links
Download Citation
