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Case Report
A case of mucolipidosis II presenting with prenatal skeletal dysplasia and severe secondary hyperparathyroidism at birth
Ju Sun Heo, Ka Young Choi, Se Hyoung Sohn, Curie Kim, Yoon Joo Kim, Seung Han Shin, Jae Myung Lee, Juyoung Lee, Jin A Sohn, Byung Chan Lim, Jin A Lee, Chang Won Choi, Ee-Kyung Kim, Han-Suk Kim, Beyong Il Kim, Jung-Hwan Choi
Clin Exp Pediatr. 2012;55(11):438-444.   Published online November 23, 2012

Mucolipidosis II (ML II) or inclusion cell disease (I-cell disease) is a rarely occurring autosomal recessive lysosomal enzyme-targeting disease. This disease is usually found to occur in individuals aged between 6 and 12 months, with a clinical phenotype resembling that of Hurler syndrome and radiological findings resembling those of dysostosis multiplex. However, we encountered a rare case of an infant...

Original Article
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
Clin Exp Pediatr. 1990;33(3):360-366.   Published online March 31, 1990
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...
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