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Korean Journal of Pediatrics ; : 438-444, 2012.
Article Dans Anglais | WPRIM | ID: wpr-47228

Résumé

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.


Sujets)
Sujet âgé , Femelle , Humains , Nourrisson , Nouveau-né , Grossesse , Acetylglucosaminidase , Phosphatase alcaline , Asphyxie , Biopsie , Poids de naissance , Dysostoses , Dosages enzymatiques , Retard de croissance intra-utérin , Dépistage génétique , Hyperparathyroïdie , Hyperparathyroïdie secondaire , Leucocytes , Mucolipidoses , Mucopolysaccharidose de type I , Hormone parathyroïdienne , Parturition , Phénotype , Plasma sanguin , Rachitisme , Trophoblastes , Vitamine D
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