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Muscle diffusion tensor imaging in glycogen storage disease V (McArdle disease)

  • R. Rehmann
  • L. SchlaffkeEmail author
  • M. Froeling
  • R. A. Kley
  • E. Kühnle
  • M. De Marées
  • J. Forsting
  • M. Rohm
  • M. Tegenthoff
  • T. Schmidt-Wilcke
  • M. Vorgerd
Musculoskeletal
  • 35 Downloads

Abstract

Purpose

To evaluate differences in diffusion parameters in thigh muscles in patients with glycogen storage disease type V (McArdle disease) using muscle diffusion tensor imaging (mDTI) compared to healthy controls

Methods

In this prospective study, we evaluated thigh muscles from hip to knee of 10 McArdle patients (5 female, mean age 33.7 ± 14.4 years) and 10 healthy age- and gender-matched volunteers. MRI scans were performed at 3 T and comprised mDTI, T1-weighted and T2-weighted imaging between May 2015 and May 2017. Needle biopsy of the vastus lateralis muscle was performed in three McArdle patients. The muscle tissue was analyzed by using histochemical and enzyme-histochemical techniques for glycogen content and histopathological changes. Mean values of the eigenvalues (λ1λ3), fractional anisotropy (FA), and mean diffusivity (MD) were obtained for the vastus lateralis, vastus medialis, rectus femoris, biceps femoris, semitendinosus, and semimembranosus and compared between groups using Student’s t tests, as well as ANCOVA; significance level was set at p < 0.05.

Results

Needle biopsy showed intracellular glycogen accumulation in skeletal muscle fibers of three McArdle patients. Extracellular histopathological changes were not found. Muscle DTI analysis did not show statistically significant differences between patients and controls for any of the muscles.

Conclusion

Despite intracellular glycogen accumulation in the three biopsy samples, mDTI parameters were not altered in McArdle patients compared to controls. We conclude that the currently used mDTI acquisition and processing lack the sensitivity to detect intracellular changes due to accumulated glycogen in this cohort of McArdle patients.

Key Points

Despite intracellular glycogen accumulation in three examined biopsy samples, mDTI parameters were not altered in McArdle patients compared to controls.

In its current form, diffusion MR does not provide additional information in quantifying intracellular glycogen accumulations within skeletal muscle fibers in McArdle patients.

Keywords

Muscle Diffusion tensor imaging Anisotropy Glycogen storage disease 

Abbreviations

ATP

Adenosine triphosphate

CK

Creatine kinase

FA

Fractional anisotropy

GSD

Glycogen storage disease

HE

Hematoxylin and eosin

MD

Mean diffusivity

mDTI

Muscle diffusion tensor imaging

PAS

Periodic acid-Schiff

PFK

Phosphofructokinase

PL

Phosphorylase

TC

Trichrome Gomori

Notes

Acknowledgments

We thank Philips Germany, especially Burkhard Maedler, for continuous scientific support.

Funding

This study has received funding from FoRUM (research grant by Ruhr-University Bochum), Grant Number: F867R-2016.

Compliance with ethical standards

Guarantor

The scientific guarantor of this publication is Prof. Matthias Vorgerd.

Conflict of interest

The authors declare that they have no competing interests.

Statistics and biometry

No complex statistical methods were necessary for this paper.

Informed consent

Written informed consent was obtained from all subjects (patients) in this study.

Ethical approval

Institutional review board approval was obtained.

Methodology

• Prospective

• Cross-sectional study

• Performed at one institution

Supplementary material

330_2018_5885_MOESM1_ESM.pptx (47 kb)
Supplementary Table 5 (PPTX 46 kb)

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Copyright information

© European Society of Radiology 2018

Authors and Affiliations

  • R. Rehmann
    • 1
  • L. Schlaffke
    • 1
    • 2
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  • M. Froeling
    • 2
  • R. A. Kley
    • 1
  • E. Kühnle
    • 1
  • M. De Marées
    • 3
  • J. Forsting
    • 1
  • M. Rohm
    • 1
  • M. Tegenthoff
    • 1
  • T. Schmidt-Wilcke
    • 4
    • 5
  • M. Vorgerd
    • 1
  1. 1.Department of Neurology, BG-University Hospital BergmannsheilRuhr-University BochumBochumGermany
  2. 2.Department of RadiologyUniversity Medical Centre UtrechtUtrechtThe Netherlands
  3. 3.Department of Sports Medicine and Sports Nutrition, Faculty of Sport ScienceRuhr-University BochumBochumGermany
  4. 4.St. Mauritius TherapieklinikMeerbuschGermany
  5. 5.Institute of Clinical Neuroscience and Medical PsychologyHeinrich Heine University of DüsseldorfDüsseldorfGermany

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