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A rare presentation of Pompe disease with massive hypertrophic cardiomyopathy at birth
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S. Noori
Published/Copyright:
June 1, 2005
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 α-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.
:
Published Online: 2005-06-01
Published in Print: 2002-12-03
Copyright © 2002 by Walter de Gruyter GmbH & Co. KG
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Articles in the same Issue
- Author Index
- Subject Index
- Contents
- Preterm premature rupture of the membranes and antioxidants: the free radical connection
- Vaginal lactobacilli and preterm birth
- Socioeconomic and environmental risk factors of bacterial vaginosis in early pregnancy
- Evaluation of creatine kinase level during long-term tocolysis
- Maternal serum glycodelin in premature rupture of membranes
- Clinical and biophysical aspects of HELLP-syndrome
- Blood flow velocity waveforms of the fetal middle cerebral artery in a normal population: reference values from 18 weeks to 42 weeks of gestation
- Cerebral hemoglobin concentration and oxygen saturation measured by intensity modulated optical spectroscopy in the human fetus during labor
- Growth discordance and the effect of a male twin on birth weight of its female co-twin: a population-based study
- Rhabdomyolysis during prolonged intravenous tocolytic therapy
- A rare presentation of Pompe disease with massive hypertrophic cardiomyopathy at birth
- Complete spontaneous resolution of severe nonimmunological hydrops fetalis with unknown etiology in the second trimester – a case report
- Epiphyseal separation of the distal humerus
- Congress Calendar
