Long term follow-up of cerebrovascular abnormalities in late onset pompe disease (LOPD)

Pompe disease or glycogen storage disease type II (GSDII; OMIM #232300) is a rare recessive metabolic disorder caused by a deficiency in the lysosomal acid a-glucosidase activity resulting in lysosomal glycogen accumulation in different tissues. Glycogen accumulation has been detected in skeletal and heart muscles, in smooth muscle of blood vessels, gastrointestinal tract and urinary bladder, leading a multisystemic clinical or subclinical involvement. Enzyme replacement therapy (ERT) changed the natural history of classic form of Pompe disease (infantile onset) and showed to improve or stabilize motor and respiratory performance in 2/3 of LOPD patients .