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

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.

journal_name

J Perinat Med

authors

Noori S,Acherman R,Siassi B,Luna C,Ebrahimi M,Pavlova Z,Ramanathan R

doi

10.1515/JPM.2002.081

keywords:

subject

Has Abstract

pub_date

2002-01-01 00:00:00

pages

517-21

issue

6

eissn

0300-5577

issn

1619-3997

journal_volume

30

pub_type

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