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
Dans Anglais
| 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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Hormone parathyroïdienne
/
Phénotype
/
Plasma sanguin
/
Asphyxie
/
Rachitisme
/
Acetylglucosaminidase
/
Trophoblastes
/
Vitamine D
/
Biopsie
/
Poids de naissance
Type d'étude:
Étude pronostique
Limites du sujet:
Adulte très âgé
/
Femelle
/
Humains
/
Bébé
/
Nouveau-né
/
Grossesse
langue:
Anglais
Texte intégral:
Korean Journal of Pediatrics
Année:
2012
Type:
Article
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