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 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.
Noori
Shahab
S
Division of Neonatology, Women's and Children's Hospital, Keck School of Medicine, University of Southern California, Los Angeles, USA. noori@pol.net
Acherman
Ruben
R
Siassi
Bijan
B
Luna
Carlos
C
Ebrahimi
Mahmood
M
Pavlova
Zdena
Z
Ramanathan
Rangasamy
R
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