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J Perinat Med. 2002;30(6):517-21.

A rare presentation of Pompe disease with massive hypertrophic cardiomyopathy at birth.

Author information

1
Division of Neonatology, Women's and Children's Hospital, Keck School of Medicine, University of Southern California, Los Angeles, USA. noori@pol.net

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.

PMID:
12530110
DOI:
10.1515/JPM.2002.081
[Indexed for MEDLINE]

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