Aortic annular ectasia: An unusual finding in an infant with Pompe disease

Pompe disease (PD) is a lysosomal storage disorder due to a deficiency of alpha-glucosidase with a broad phenotypic spectrum and is a common cause of familial hypertrophic cardiomyopathy. Here, we report the case of an infant who presented with distinctive facial features and hepatomegaly, cardiomegaly and underlying pneumonia. He was diagnosed with PD and found to have aortic annular ectasia. We want to report this unusual presentation of infantile-onset PD.