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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

Crossref 15

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...

DOI: https://doi.org/10.3345/kjp.2012.55.11.438

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