Warning: fopen(/home/virtual/pediatrics/journal/upload/ip_log/ip_log_2024-06.txt) [function.fopen]: failed to open stream: Permission denied in /home/virtual/pediatrics/journal/ip_info/view_data.php on line 82

Warning: fwrite(): supplied argument is not a valid stream resource in /home/virtual/pediatrics/journal/ip_info/view_data.php on line 83
2 cases of I-cell disease.

Journal of the Korean Pediatric Society 1990;33(3):360-366.
Published online March 31, 1990.
2 cases of I-cell disease.
H D Lee, K H Kim, Y T Lim, W T Kim, S Y Kim, H J Jeon, H J Park, C Y Kim
Department of Pediatrics, College of Medicine, Pusan National University, Pusan, Korea
I-CELL병 (Mucolipidosis II) 2례
이형두, 김경환, 임영탁, 김우택, 김수영, 전희주, 박희주, 김찬영
부산대학교 의과대학 소아과학교실
Received: 24 August 1989   • Accepted: 17 October 1989
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

METRICS Graph View
  • 977 View
  • 6 Download