A case of mucolipidosis II presenting with prenatal skeletal dysplasia and severe secondary hyperparathyroidism at birth.
10.3345/kjp.2012.55.11.438
- Author:
Ju Sun HEO
1
;
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
Author Information
1. Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea. kimhans@snu.ac.kr
- Publication Type:Case Report
- Keywords:
Mucolipidosis;
Newborn infant;
Secondary hyperparathyroidism;
Enzyme assays;
Human GNPTAB protein
- MeSH:
Acetylglucosaminidase;
Aged;
Alkaline Phosphatase;
Asphyxia;
Biopsy;
Birth Weight;
Dysostoses;
Enzyme Assays;
Female;
Fetal Growth Retardation;
Genetic Testing;
Humans;
Hyperparathyroidism;
Hyperparathyroidism, Secondary;
Infant;
Infant, Newborn;
Leukocytes;
Mucolipidoses;
Mucopolysaccharidosis I;
Parathyroid Hormone;
Parturition;
Phenotype;
Plasma;
Pregnancy;
Rickets;
Trophoblasts;
Vitamin D
- From:Korean Journal of Pediatrics
2012;55(11):438-444
- CountryRepublic of Korea
- Language:English
-
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 beta-D-hexosaminidase and alpha-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.
