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CASE REPORT
Korean J Pediatr 2012 November;55(11) :438-444.
Published online 2012 July 19.        doi:https://doi.org/10.3345/kjp.2012.55.11.438
A case of mucolipidosis II presenting with prenatal skeletal dysplasia and severe secondary hyperparathyroidism at birth
Ju Sun Heo (Heo JS), Ka Young Choi (Choi KY), Se Hyoung Sohn (Sohn SH), Curie Kim (Kim CK), Yoon Joo Kim (Kim YJ), Seung Han Shin (Shin SH), Jae Myung Lee (Lee JM), Juyoung Lee (Lee JY), Jin A Sohn (Sohn JA), Byung Chan Lim (Lim BC), Jin A Le (Le JA), Chang Won Choi (Choi CW), Ee-Kyung Kim (Kim EK), Han-Suk Kim (Kim HS), Beyong Il Kim (Kim BI), Jung-Hwan Choi (Choi JH)
Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea
Corresponding Author: Han-Suk Kim ,Tel: 02-2072-1696, Fax: 02-747-5130, Email: kimhans@snu.ac.kr
Copyright © 2012 by The Korean Pediatric Society
ABSTRACT
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 -D-hexosaminidase and -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.
Keywords: Mucolipidosis II | Newborn | Newborn infant | Secondary hyperparathyroidism | Enzyme assays | Newborn infant | Secondary hyperparathyroidism
 
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