All issues > Volume 33(3); 1990

Original Article

J Korean Pediatr Soc. 1990;33(3):360-366. Published online March 31, 1990.

2 cases of I-cell disease.

H D Lee¹, K H Kim¹, Y T Lim¹, W T Kim¹, S Y Kim¹, H J Jeon¹, H J Park¹, C Y Kim¹

¹Department of Pediatrics, College of Medicine, Pusan National University, Pusan, Korea

Received: August 24, 1989;  Accepted: October 17, 1989.

Abstract

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.

Keywords :I-cell disease, Mucolipidosis type II, Gargoylism