Pompe Disease and Normal Whole-Body Magnetic Resonance Imaging.

Pompe disease (PD) or glycogen storage disease type II, is an autosomal recessive disorder characterized by a defi ciency in the lysosomal enzyme acid alpha-glucosidase. Several phenotypes have been described, ranging from rapidly progressive infantile forms to slowly progressive late-onset forms. Recent studies have shown that magnetic resonance imaging (MRI), based principally on signal intensity changes resulting from fat infi ltration into muscle and also from decreased muscle volume, can contribute signifi cantly to a specifi c diagnosis in patients with several inherited muscular disorders, including PD, and contribute to an extensive evaluation of muscle alterations. MRI in PD usually shows a very suggestive myopathic pattern with fatty infi ltration and atrophy of muscles more evident in the spine extensors and pelvic girdle muscles, and consistent changes in the tongue and subscapularis.