A case of mucolipidosis II presenting with prenatal skeletal dysplasia and severe secondary hyperparathyroidism at birth / 소아과
Korean Journal of Pediatrics
;
: 438-444, 2012.
Artículo
en Inglés
| 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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Hormona Paratiroidea
/
Fenotipo
/
Plasma
/
Asfixia
/
Raquitismo
/
Acetilglucosaminidasa
/
Trofoblastos
/
Vitamina D
/
Biopsia
/
Peso al Nacer
Tipo de estudio:
Estudio pronóstico
Límite:
Anciano
/
Femenino
/
Humanos
/
Lactante
/
Recién Nacido
/
Embarazo
Idioma:
Inglés
Revista:
Korean Journal of Pediatrics
Año:
2012
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS