A case of mucolipidosis II presenting with prenatal skeletal dysplasia and severe secondary hyperparathyroidism at birth

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 radio...

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Bibliographic Details
Published in:Korean journal of pediatrics 2012, Vol.55 (11), p.438-444
Main Authors: Heo, Ju Sun, Choi, Ka Young, Sohn, Se Hyoung, Kim, Curie, Kim, Yoon Joo, Shin, Seung Han, Lee, Jae Myung, Lee, Juyoung, Sohn, Jin A, Lim, Byung Chan, Lee, Jin A, Choi, Chang Won, Kim, Ee-Kyung, Kim, Han-Suk, Kim, Beyong Il, Choi, Jung-Hwan
Format: Article
Language:Korean
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Summary: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 with ML II who presented with prenatal skeletal dysplasia and typical clinical features of severe secondary hyperparathyroidism at birth. A female infant was born at $37^{+1}$ weeks of gestation with a birth weight of 1,690 g (T (p.Arg1031X) and c.3456_3459dupCAAC (p.Ile1154GlnfsX3), the latter being a novel mutation. The infant was treated with vitamin D supplements but expired because of asphyxia at the age of 2 months.
ISSN:1738-1061
2092-7258