MRI scans

Change in Brain Structure Found on MRI Scans in 1 Pompe Type

MRI scans of people with classic infantile Pompe disease showed a change in the microscopic structure of certain brain regions — but no damage was seen in patients with the late-onset form of the disease, a new study reports. “We conclude that, while no deviations from typical neurodevelopment were…

Brain White Matter Abnormalities Found in Pompe Despite Treatment

An MRI-based study found that progression of white matter involvement in the brain among patients with infantile-onset Pompe disease (IOPD) occurred at different rates and correlated with cognitive decline — despite ongoing treatment. White matter abnormalities also were tied to elevated bloodstream levels of the neurofilament light chain (NfL)…

Tongue Abnormalities Seen on MRI are Common in Late-Onset Pompe, Study Says

Magnetic resonance imaging (MRI) showing an abnormally bright signal in the tongue is common among patients with late-onset Pompe disease, a study has found. This particular imaging feature may hold diagnostic potential as it seems to be specific to Pompe disease patients with muscle weakness, not being detected in…