A rare presentation of Pompe disease with massive hypertrophic cardiomyopathy at birth.
J Perinat Med
; 30(6): 517-21, 2002.
Article
de En
| MEDLINE
| ID: mdl-12530110
ABSTRACT
We report a term infant with Pompe disease presenting in the immediate newborn period. The infant was born at 40 weeks' gestation, weighing 3600 g to a 32 year-old black female. Infant presented at delivery with massive hypertrophic cardiomyopathy and pulmonary hypertension. Diagnosis was confirmed by low alpha-glucosidase activity. The histopathology and electron microscopic findings were consistent with Pompe disease. This is the second reported case of Pompe disease presenting at delivery.
Recherche sur Google
Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Cardiomyopathie hypertrophique
/
Glycogénose de type II
Type d'étude:
Diagnostic_studies
Limites:
Adult
/
Female
/
Humans
/
Newborn
/
Pregnancy
Langue:
En
Journal:
J Perinat Med
Année:
2002
Type de document:
Article
Pays d'affiliation:
États-Unis d'Amérique