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A case of mucolipidosis II presenting with prenatal skeletal dysplasia and severe secondary hyperparathyroidism at birth.
MedLine Citation:
PMID:  23227064     Owner:  NLM     Status:  PubMed-not-MEDLINE    
Abstract/OtherAbstract:
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 (<3rd percentile). Prenatal ultrasonographic findings revealed intrauterine growth retardation and skeletal dysplasia. At birth, the patient had characteristic features of ML II, and skeletal radiographs revealed dysostosis multiplex, similar to rickets. In addition, the patient had high levels of alkaline phosphatase and parathyroid hormone, consistent with severe secondary neonatal hyperparathyroidism. The activities of β-D-hexosaminidase and α-N-acetylglucosaminidase were moderately decreased in the leukocytes but were 5- to 10-fold higher in the plasma. Examination of a placental biopsy specimen showed foamy vacuolar changes in trophoblasts and syncytiotrophoblasts. The diagnosis of ML II was confirmed via GNPTAB genetic testing, which revealed compound heterozygosity of c.3091C>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.
Authors:
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
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Publication Detail:
Type:  Journal Article     Date:  2012-11-23
Journal Detail:
Title:  Korean journal of pediatrics     Volume:  55     ISSN:  1738-1061     ISO Abbreviation:  Korean J Pediatr     Publication Date:  2012 Nov 
Date Detail:
Created Date:  2012-12-11     Completed Date:  2012-12-12     Revised Date:  2013-05-30    
Medline Journal Info:
Nlm Unique ID:  101215374     Medline TA:  Korean J Pediatr     Country:  Korea (South)    
Other Details:
Languages:  eng     Pagination:  438-44     Citation Subset:  -    
Affiliation:
Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
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