Pompe disease is a hereditary neuromuscular disorder attributed to acid α-glucosidase deficiency, and accurately identifying this disease is essential. Our aim was to discriminate normal muscles from neuropathic muscles in children affected by Pompe disease using a texture-feature parametric imaging method that simultaneously considers microstructure and macrostructure. The study included 22 children aged 0.02-54 months with Pompe disease and six healthy children aged 2-12 months with normal muscles. For each subject, transverse ultrasound images of the bilateral rectus femoris and sartorius muscles were obtained. Gray-level co-occurrence matrix-based Haralick's features were used for constructing parametric images and identifying neuropathic muscles: autocorrelation (AUT), contrast, energy (ENE), entropy (ENT), maximum probability (MAXP), variance (VAR), and cluster prominence (CPR). Stepwise regression was used in feature selection. The Fisher linear discriminant analysis was used for combination of the selected features to distinguish between normal and pathological muscles. The VAR and CPR were the optimal feature set for classifying normal and pathological rectus femoris muscles, whereas the ENE, VAR, and CPR were the optimal feature set for distinguishing between normal and pathological sartorius muscles. The two feature sets were combined to discriminate between children with and without neuropathic muscles affected by Pompe disease, achieving an accuracy of 94.6%, a specificity of 100%, a sensitivity of 93.2%, and an area under the receiver operating characteristic curve of 0.98 ± 0.02. The CPR for the rectus femoris muscles and the AUT, ENT, MAXP, and VAR for the sartorius muscles exhibited statistically significant differences in distinguishing between the infantile-onset Pompe disease and late-onset Pompe disease groups (p < 0.05). Texture-feature parametric imaging can be used to quantify and map tissue structures in skeletal muscles and distinguish between pathological and normal muscles in children or newborns.
Keywords: Pompe disease; children; quantitative muscle ultrasound; texture-feature parametric imaging.