A case of mucolipidosis II presenting with prenatal skeletal dysplasia and severe secondary hyperparathyroidism at birth / 소아과
Korean Journal of Pediatrics
;
: 438-444, 2012.
Article
in English
| WPRIM
| ID: wpr-47228
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 (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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Parathyroid Hormone
/
Phenotype
/
Plasma
/
Asphyxia
/
Rickets
/
Acetylglucosaminidase
/
Trophoblasts
/
Vitamin D
/
Biopsy
/
Birth Weight
Type of study:
Prognostic study
Limits:
Aged
/
Female
/
Humans
/
Infant
/
Infant, Newborn
/
Pregnancy
Language:
English
Journal:
Korean Journal of Pediatrics
Year:
2012
Type:
Article
Similar
MEDLINE
...
LILACS
LIS