Journal of Perinatal Medicine
Official Journal of the World Association of Perinatal Medicine
Editor-in-Chief: Dudenhausen, MD, FRCOG, Joachim W.
Ed. by Bancalari, Eduardo / Chappelle, Joseph / Chervenak, Frank A. / D'Addario , Vincenzo / Genc, Mehmet R. / Greenough, Anne / Grunebaum, Amos / Konje, Justin C. / Kurjak M.D., Asim / Romero, Roberto / Zalud, MD PhD, Ivica
IMPACT FACTOR 2018: 1.361
5-year IMPACT FACTOR: 1.578
CiteScore 2018: 1.29
SCImago Journal Rank (SJR) 2018: 0.522
Source Normalized Impact per Paper (SNIP) 2018: 0.602
A rare presentation of Pompe disease with massive hypertrophic cardiomyopathy at birth
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.
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