Early Onset Pompe and Leukoencephalopathy: A Case-Report Study

Background: Acid maltase deficiency is the cause of Pompe disease (PD), also known as glycogen storage disease type II, which can result in lysosomal glycogen storage. Children, adults, and newborns can all exhibit fundamental characteristics. We described a rare case of Pompe disease (PD) with leukodystrophy manifestations, who was referred two years prior by an orthopedist due to irregular walking.

کلیدواژه ها:

Pompe disease ، Glycogen storage disease ، Hypertrophy.