MRI and cognitive assessment of children with infantile and late-onset Pompe disease


  • Children with infantile Pompe disease (IPD) had mild-to-severe white matter (WM) hyperintensities on MRI and altered cognitive development but children with late-onset Pompe disease (LOPD) did not.

Why this matters

    This study characterizes the poorly understood central nervous system (CNS) involvement of Pompe disease and its impact on developmental functioning.