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Publication Date:
June 2005
ISSN:
1619-3997
DOI:
10.1515/JPM.2002.081

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Journal of Perinatal Medicine

Official Journal of the World Association of Perinatal Medicine

Editor-in-Chief: Dudenhausen, Joachim W.

Editorial Board Member: / Bancalari, Eduardo / Greenough, Anne / Genc, Mehmet R. / Chervenak, Frank A. / Aslam, Muhammad / Bergmann, Renate L. / Bernardes, J.F. / Bevilacqua, G. / Blickstein, Isaac / Brezinka, Christoph / Cabero Roura, Luis / Carbonell-Estrany, Xavier / Carrera, Jose M. / D`Addario, Vincenzo / Dimitrou, G. / Foulon, Walter / Grunebaum, G. E. / Harding, Jane / Hentschel, Roland / Kawabata, Ichiro / Keirse, M.J.M.C. / Kurjak M.D., Asim / Levene, Malcolm / Lockwood, Charles J. / Marsal, Karel / Nishida, Hiroshi / Papp, Zoltán / Makatsariya, Alexander / Pejaver, Ranjan Kumar / Pooh, Ritsuko K. / Saugstad, Ola D. / Schenker, Joseph G. / Sen, Cihat / Geijn, Herman P. / Vetter, Klaus / Young, Bruce K. / Zimmermann, Roland / Köpcke, W.

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

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

Citation Information: Journal of Perinatal Medicine. Volume 30, Issue 6, Pages 517–521, ISSN (Print) 0300-5577, DOI: 10.1515/JPM.2002.081, June 2005

Publication History:
Published Online:
2005-06-01

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.

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