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

Publication ,  Journal Article
Korlimarla, A; Spiridigliozzi, GA; Crisp, K; Herbert, M; Chen, S; Malinzak, M; Stefanescu, M; Austin, SL; Cope, H; Zimmerman, K; Jones, H ...
Published in: Neurology
August 2020

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

Neurology

DOI

EISSN

1526-632X

ISSN

0028-3878

Publication Date

August 2020

Volume

95

Issue

6

Start / End Page

e718 / e732

Related Subject Headings

  • White Matter
  • Neurology & Neurosurgery
  • Neuroimaging
  • Magnetic Resonance Imaging
  • Language Disorders
  • Humans
  • Glycogen Storage Disease Type II
  • Glucan 1,4-alpha-Glucosidase
  • Enzyme Replacement Therapy
  • Developmental Disabilities
 

Citation

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Korlimarla, A., Spiridigliozzi, G. A., Crisp, K., Herbert, M., Chen, S., Malinzak, M., … Kishnani, P. S. (2020). Novel approaches to quantify CNS involvement in children with Pompe disease. Neurology, 95(6), e718–e732. https://doi.org/10.1212/wnl.0000000000009979
Korlimarla, Aditi, Gail A. Spiridigliozzi, Kelly Crisp, Mrudu Herbert, Steven Chen, Michael Malinzak, Mihaela Stefanescu, et al. “Novel approaches to quantify CNS involvement in children with Pompe disease.Neurology 95, no. 6 (August 2020): e718–32. https://doi.org/10.1212/wnl.0000000000009979.
Korlimarla A, Spiridigliozzi GA, Crisp K, Herbert M, Chen S, Malinzak M, et al. Novel approaches to quantify CNS involvement in children with Pompe disease. Neurology. 2020 Aug;95(6):e718–32.
Korlimarla, Aditi, et al. “Novel approaches to quantify CNS involvement in children with Pompe disease.Neurology, vol. 95, no. 6, Aug. 2020, pp. e718–32. Epmc, doi:10.1212/wnl.0000000000009979.
Korlimarla A, Spiridigliozzi GA, Crisp K, Herbert M, Chen S, Malinzak M, Stefanescu M, Austin SL, Cope H, Zimmerman K, Jones H, Provenzale JM, Kishnani PS. Novel approaches to quantify CNS involvement in children with Pompe disease. Neurology. 2020 Aug;95(6):e718–e732.

Published In

Neurology

DOI

EISSN

1526-632X

ISSN

0028-3878

Publication Date

August 2020

Volume

95

Issue

6

Start / End Page

e718 / e732

Related Subject Headings

  • White Matter
  • Neurology & Neurosurgery
  • Neuroimaging
  • Magnetic Resonance Imaging
  • Language Disorders
  • Humans
  • Glycogen Storage Disease Type II
  • Glucan 1,4-alpha-Glucosidase
  • Enzyme Replacement Therapy
  • Developmental Disabilities