Horvath Jeffrey J, Austin Stephanie L, Case Laura E, Greene Karla B, Jones Harrison N, Soher Brian J, Kishnani Priya S, Bashir Mustafa R
Department of Radiology, Duke University Medical Center, Durham, North Carolina, USA.
Muscle Nerve. 2015 May;51(5):722-30. doi: 10.1002/mus.24437. Epub 2015 Mar 26.
Previous examination of whole-body muscle involvement in Pompe disease has been limited to physical examination and/or qualitative magnetic resonance imaging (MRI). In this study we assess the feasibility of quantitative proton-density fat-fraction (PDFF) whole-body MRI in late-onset Pompe disease (LOPD) and compare the results with manual muscle testing.
Seven LOPD patients and 11 disease-free controls underwent whole-body PDFF MRI. Quantitative MR muscle group assessments were compared with physical testing of muscle groups.
The 95% upper limits of confidence intervals for muscle groups were 4.9-12.6% in controls and 6.8-76.4% in LOPD patients. LOPD patients showed severe and consistent tongue and axial muscle group involvement, with less marked involvement of peripheral musculature. MRI was more sensitive than physical examination for detection of abnormality in multiple muscle groups.
This integrated, quantitative approach to muscle assessment provides more detailed data than physical examination and may have clinical utility for monitoring disease progression and treatment response.
既往对庞贝病全身肌肉受累情况的检查仅限于体格检查和/或定性磁共振成像（MRI）。在本研究中，我们评估了定量质子密度脂肪分数（PDFF）全身MRI在晚发型庞贝病（LOPD）中的可行性，并将结果与手动肌肉测试进行比较。
7例LOPD患者和11名无病对照者接受了全身PDFF MRI检查。将定量MR肌肉组评估结果与肌肉组的体格检查结果进行比较。
对照组肌肉组95%置信区间上限为4.9%-12.6%，LOPD患者为6.8%-76.4%。LOPD患者表现出严重且持续的舌肌和轴性肌肉组受累，外周肌肉组织受累较轻。MRI在检测多个肌肉组异常方面比体格检查更敏感。
这种综合的定量肌肉评估方法比体格检查提供了更详细的数据，可能对监测疾病进展和治疗反应具有临床实用价值。
