title: 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.
authors.affiliation: Division of Neonatology, Women's and Children's Hospital, Keck School of Medicine, University of Southern California, Los Angeles, USA. noori@pol.net
authors.forename: Shahab
authors.initials: S
authors.lastname: Noori
authors.forename: Ruben
authors.initials: R
authors.lastname: Acherman
authors.forename: Bijan
authors.initials: B
authors.lastname: Siassi
authors.forename: Carlos
authors.initials: C
authors.lastname: Luna
authors.forename: Mahmood
authors.initials: M
authors.lastname: Ebrahimi
authors.forename: Zdena
authors.initials: Z
authors.lastname: Pavlova
authors.forename: Rangasamy
authors.initials: R
authors.lastname: Ramanathan
mesh_terms: D000328:Adult; D002312:Cardiomyopathy, Hypertrophic / Q000151:congenital / Q000175:diagnosis* / Q000000981:diagnostic imaging; D003937:Diagnosis, Differential; D004562:Electrocardiography; D017809:Fatal Outcome; D005260:Female; D006009:Glycogen Storage Disease Type II / Q000175:diagnosis* / Q000000981:diagnostic imaging; D006801:Humans; D007231:Infant, Newborn; D011247:Pregnancy; D011859:Radiography; D014463:Ultrasonography