Early-onset Pompe disease: an imaging spectrum

Abstract Pompe disease is a glycogen storage disorder (type II) caused by a deficiency of the lysosomal enzyme acid maltase (also called alpha-glucosidase), resulting in the lysosomal accumulation of glycogen in multiple organs, predominantly the heart and skeletal muscle. In the early-onset type, the disorder is distinguished by severe hypotonia, macroglossia and hypertrophic cardiomyopathy, causing respiratory distress, feeding difficulty and death due to cardiorespiratory failure in the first year of life. The diagnosis is confirmed by enzyme testing, muscle biopsy or genetic testing. We report a case of early-onset Pompe disease in a 10-month-old infant with hypotonia, hypertrophic cardiomyopathy, macroglossia and enlarged and echogenic or hyperdense muscles on imaging.