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

AbstractWe 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.