White matter brain lesions in Infantile-onset Pompe disease are not metabolically active using 18F-FDG PET/MR imaging.


Infantile-onset Pompe disease (IOPD) is a rare, progressive, recessive muscle disorder caused by a (near) complete deficiency of the lysosomal alpha-glucosidase (GAA), leading to an accumulation of glycogen. Untreated patients die before the age of one year, due to progressive generalized muscle weakness, hypertrophic cardiomyopathy, and respiratory insufficiency. However, since intravenous enzyme replacement therapy (ERT) is available, patients show significant improvement in survival, cardiac and motor outcome.


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