龐貝氏症是一種遺傳性罕見疾病，及早的治療對龐貝氏症患者而言是重要的，而超音波影像在骨骼肌肉系統的判別有良好的診斷效果，因此本研究將分析龐貝氏症患者其肌肉超音波的影像特徵，利用正常與不正常肌肉組織之間參數的差異，分析病變的程度，以定性、定量感興趣區域回音強度、定量影像分割後面積大小進行統計分析，預期肌肉超音波影像在臨床上的可能應用價值用以輔助新進醫師做為診斷的參考依據。定性結果顯示患有龐貝氏症但不具臨床症狀者以Grade 1的分布最多；患有龐貝氏症且已進行酵素治療以Grade 2的分布最多；控制組以Grade 1的分布最多。定量影像分割後面積大小結果顯示以患有龐貝氏症且已進行酵素治療的影像分割後面積大小最大且分布最廣，控制組的影像分割後面積大小的範圍值最低且最窄。定量感興趣區域結果顯示患有龐貝氏症且已進行酵素治療影像回音強度最強且分布最廣。所有感興趣區域，其分割後面積大小與回音強度之間具有高度相關性(r=0.878，p-value<0.0001)。研究結果顯示患有龐貝氏症但不具臨床症狀者其影像回音強度上升情形低，影像回音不均勻性情形小；患有龐貝氏症且已進行酵素治療其影像回音強度上升情形多，影像回音不均勻性情形大。二維灰階的超音波影像技術得確能夠用來評估肌肉組織的變異，並且能夠利用定量影像分割後面積或迴歸分析結果來預期患有龐貝氏症但不具臨床症狀族群其發病的可能性，建議可將超音波的檢查納入常規定期追蹤的項目。
Pompe disease is a hereditary rare disease. It is important for those patients with early treatment. Application of ultrasonography in the musculoskeletal system has been developed very well. The purpose of this study is to analysis the characteristics of the muscular ultrasonography in Pompe patients, and applying the difference of these parameters to differentiate the pathological changes qualitatively and quantitatively. Statistical analysis was performed on qualitative grading, quantification of the echo intensity of region of interest, and quantify the segmented area. Qualitative results show that Pompe disease with no clinical symptoms had the highest distribution of Grade 1, and already onset Pompe patients had the most widely distribute of Grade 2, and control group with the highest distribution of Grade 1. Results of segmented area showed that already onset Pompe patients were the largest and most widely, and the control group is the lowest and the narrowest. The results showed intensity of region of interest with already onset Pompe patients had been the most powerful and widely distributed. Segmented area and the intensity of regions of interest were highly correlated(r=0.878，p-value<0.0001). In conclusion, already onset Pompe patients had high image echo intensity rise with high inhomogeneity. Otherwise, Pompe patients with no clinical symptoms had the opposite result, which is the incidence of echo intensity slightly increased with low inhomogeneity. Two-dimensional ultrasound can be used to assess the muscle tissue variation, and using the quantitative segmented area or regression analysis results to predict the incidence of onset. It is recommended that ultrasonography can be included in routine inspections.
