Novel approaches to quantify CNS involvement in children with Pompe disease.

ABSTRACT:

Objective

To characterize the extent of CNS involvement in children with Pompe disease using brain MRI and developmental assessments.

Methods

The study included 14 children (ages 6-18 years) with infantile Pompe disease (IPD) (n = 12) or late-onset Pompe disease (LOPD) (n = 2) receiving enzyme replacement therapy. White matter (WM) hyperintense foci seen in the brain MRIs were systematically quantified using the Fazekas scale (FS) grading system with a novel approach: the individual FS scores from 10 anatomical areas were summed to yield a total FS score (range absent [0] to severe [30]) for each child. The FS scores were compared to developmental assessments of cognition and language obtained during the same time period.

Results

Mild to severe WM hyperintense foci we

SUBMITTER: Korlimarla A 

PROVIDER: S-EPMC7455359 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature