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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
Eight cases of incidentally diagnosed as subclinical rickets
Ji-Young Seo, Curie Kim, Hee-Woo Lee, Young-Min Ahn
Clin Exp Pediatr. 2008;51(8):812-819.   Published online August 15, 2008
Purpose : Vitamin D plays a key role in bone mineralization of the skeleton and vitamin D deficiency can lead to rickets. It is well known that vitamin D deficiency is common in breast fed infants. Of these patients, clinically, some have no signs of rickets, but laboratory and radiographic findings are diagnostic for vitamin D deficiency rickets (subclinical vitamin...
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