A rare presentation of Pompe disease with massive hypertrophic cardiomyopathy at birth.
J Perinat Med
; 30(6): 517-21, 2002.
Article
en 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.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Cardiomiopatía Hipertrófica
/
Enfermedad del Almacenamiento de Glucógeno Tipo II
Tipo de estudio:
Diagnostic_studies
Límite:
Adult
/
Female
/
Humans
/
Newborn
/
Pregnancy
Idioma:
En
Revista:
J Perinat Med
Año:
2002
Tipo del documento:
Article
País de afiliación:
Estados Unidos