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Novel approaches to quantify CNS involvement in children with Pompe disease
Aditi Korlimarla1, Gail A Spiridigliozzi1, Kelly Crisp1
1From the Division of Medical Genetics, Department of Pediatrics (A.K., M.S., S.L.A., H.C., P.S.K.), Department of Psychiatry and Behavioral Sciences (G.A.S.), Department of Surgery (K.C., H.J.), and Department of Neuroradiology (S.C., M.M., J.M.P.), Duke University Medical Center, Durham, NC; Department of Pediatric Neurology (M.H.), University of Kentucky Medical Center, Lexington; and Duke Clinical Research Institute (K.Z.), Durham, NC.
Insights
Children with infantile Pompe disease (IPD) often show white matter abnormalities on MRI, impacting cognitive and language development. This study offers a new method to track these changes over time.
Area of Science:
- Neurology
- Pediatric Neurology
- Neuroimaging
Background:
- Pompe disease is a rare genetic disorder affecting multiple organ systems.
- Central nervous system (CNS) involvement is increasingly recognized in Pompe disease, particularly in infantile Pompe disease (IPD).
- Understanding the extent and impact of CNS involvement is crucial for patient management.
Purpose of the Study:
- To characterize the extent of CNS involvement in children with Pompe disease.
- To correlate brain MRI findings, specifically white matter (WM) hyperintensities, with developmental assessments.
- To establish a benchmark for longitudinal follow-up of WM abnormalities.
Main Methods:
- 14 children (ages 6-18) with IPD or late-onset Pompe disease (LOPD) on enzyme replacement therapy were studied.
- Brain MRIs were analyzed using a novel summed Fazekas scale (FS) score across 10 anatomical areas.
- FS scores were compared with cognitive and language developmental assessments.
Main Results:
- 10/12 children with IPD showed mild to severe WM hyperintensities (total FS scores 2-23), affecting corticospinal tracts.
- Children with IPD exhibited weaknesses in processing speed, fluid reasoning, visual perception, and receptive vocabulary.
- The 2 children with LOPD had no WM hyperintensities and scored well on developmental assessments.
Conclusions:
- This study systematically characterized WM hyperintensities in children with IPD.
- The novel summed FS score provides a quantifiable measure for tracking WM changes.
- Findings can serve as a benchmark for Pompe disease and other pediatric neurodegenerative disorders.
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 were seen in 10/12 children with IPD (median age 10.6 years) with total FS scores ranging from 2 to 23. Periventricular, subcortical, and deep WM were involved. WM hyperintense foci were seen throughout the path of the corticospinal tracts in the brain in children with IPD. Two children with IPD had no WM hyperintense foci. Children with IPD had relative weaknesses in processing speed, fluid reasoning, visual perception, and receptive vocabulary. The 2 children with LOPD had no WM hyperintense foci, and high scores on most developmental assessments.
Conclusion:
This study systematically characterized WM hyperintense foci in children with IPD, which could serve as a benchmark for longitudinal follow-up of WM abnormalities in patients with Pompe disease and other known neurodegenerative disorders or leukodystrophies in children.
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