Department of Neurology, BG-University Hospital Bergmannsheil, Ruhr-University Bochum, Bochum, Germany.
Department of Radiology, University Medical Centre Utrecht, Utrecht, The Netherlands.
Eur Radiol. 2019 Jun;29(6):3224-3232. doi: 10.1007/s00330-018-5885-1. Epub 2018 Dec 17.
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 (λ-λ), 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.
使用肌肉弥散张量成像（mDTI）评估与健康对照组相比，Ⅴ型糖原贮积病（McArdle 病）患者大腿肌肉弥散参数的差异。
本前瞻性研究纳入了 10 例 McArdle 患者（5 名女性，平均年龄 33.7±14.4 岁）和 10 名年龄和性别匹配的健康志愿者，对其自髋关节至膝关节的大腿肌肉进行评估。MRI 扫描在 3T 扫描仪上进行，包括 mDTI、T1 加权成像和 T2 加权成像，扫描时间为 2015 年 5 月至 2017 年 5 月。对 3 例 McArdle 患者进行了股外侧肌的针刺活检。采用组织化学和酶组织化学技术对肌肉组织的糖原含量和组织病理学变化进行分析。分别测量股外侧肌、股中间肌、股直肌、股二头肌、半腱肌和半膜肌的本征值（λ-λ）、各向异性分数（FA）和平均弥散系数（MD）的平均值，并采用 Student t 检验和协方差分析（ANCOVA）比较组间差异，以 p<0.05 为差异有统计学意义。
3 例 McArdle 患者的肌肉活检显示骨骼肌纤维内有细胞内糖原堆积。未发现细胞外组织病理学变化。与对照组相比，McArdle 患者的任何肌肉的弥散张量成像参数均无统计学差异。
尽管在 3 例活检样本中观察到细胞内糖原堆积，但与对照组相比，McArdle 患者的 mDTI 参数并未改变。我们的结论是，在 McArdle 患者的这一组中，目前使用的 mDTI 采集和处理方法缺乏检测由于细胞内堆积的糖原而导致的细胞内变化的敏感性。
尽管在 3 例检查活检样本中观察到细胞内糖原堆积，但与对照组相比，McArdle 患者的 mDTI 参数并未改变。
在目前的形式下，弥散磁共振成像（MR）在定量 McArdle 患者骨骼肌纤维内细胞内糖原积累方面没有提供额外的信息。
