| 2 cases of I-cell disease. |
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H D Lee, K H Kim, Y T Lim, W T Kim, S Y Kim, H J Jeon, H J Park, C Y Kim |
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Department of Pediatrics, College of Medicine, Pusan National University, Pusan, Korea |
| I-CELL병 (Mucolipidosis II) 2례 |
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이형두, 김경환, 임영탁, 김우택, 김수영, 전희주, 박희주, 김찬영 |
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부산대학교 의과대학 소아과학교실 |
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Received: 24 August 1989 • Accepted: 17 October 1989 |
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| Abstract |
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Clinical pictures of 2 cases with I-cell disease patients, 8 and 11 months old female, were analyzed.
Characteristic coarse facial features, gum hypertrophy, retarded growth and dysostosis multiplex
were observed in both cases. Under phase contrast microscopic examination, cultured fibroblasts of
skin of case I patient had their cytoplasm filled with numerous dark granules leaving only a
juxtanuclear crescent free of inclusions. We report these cases with a brief review of associated
literatures. |
| Key Words:
I-cell disease, Mucolipidosis type II, Gargoylism |
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