Muscle diffusion tensor imaging in glycogen storage disease V (McArdle disease)
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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
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 (λ1–λ3), 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.
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.
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.
• 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.
KeywordsMuscle Diffusion tensor imaging Anisotropy Glycogen storage disease
Glycogen storage disease
Hematoxylin and eosin
Muscle diffusion tensor imaging
We thank Philips Germany, especially Burkhard Maedler, for continuous scientific support.
This study has received funding from FoRUM (research grant by Ruhr-University Bochum), Grant Number: F867R-2016.
Compliance with ethical standards
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.
Written informed consent was obtained from all subjects (patients) in this study.
Institutional review board approval was obtained.
• Cross-sectional study
• Performed at one institution
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