Ultrasonography-Based Qualitative and Quantitative Evaluation Approaches for Pompe Disease

Abstract

Purpose The aim of this study was to propose the qualitative and quantitative approaches to evaluate the skeletal muscle ultrasound images of 23 Pompe disease (i.e., acid maltase deficiency, AMD) patients and 14 normal subjects. Methods A cohort of 23 AMD patients and 14 normal subjects has been investigated. We compared the B-mode echo intensity of the rectus femoris muscle with that of its surrounding fat (subcutaneous fat) and proposed a qualitative grading method. Quantitative analysis of the region of interest (ROI) with the echo intensity and the segmented area was also performed. Results Qualitative results showed that AMD patients without clinical symptoms (without undergoing ERT) had the highest distribution of Grade 1, and AMD patients undergoing ERT had the widest distribution of Grade 2, and control group (n = 14) with the highest distribution of Grade 1. Using the segmented area approach, quantitative results showed that AMD patients undergoing ERT had the largest and widest distribution. Meanwhile the control subjects (normal subjects) had the lowest and the narrowest areas. The echo intensity of the segmented ROI of AMD patients undergoing ERT displayed the highest and widest (inhomogeneous) distributions. By contrast, the echo intensity of AMD patients without clinical symptoms was slightly increased and with low inhomogeneity. Conclusion The proposed ultrasonography-based qualitative and quantitative approach may be used to evaluate the severity of muscle destruction for AMD patients. Besides, the quantitative segmented area with regression analysis could help predict the incidence of onset of Pompe disease patients.

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