Efficacy of Quantitative Muscle Ultrasound Using Texture-Feature Parametric Imaging in Detecting Pompe Disease in

Hong-Jen Chiou1,2,3, Chih-Kuang Yeh4, Hsuen-En Hwang5

  • 1Division of Ultrasound and Breast Imaging, Department of Radiology, Taipei Veterans General Hospital, Taipei 11217, Taiwan.

Insights

Texture-feature parametric imaging accurately distinguishes neuropathic muscles in children with Pompe disease. This method uses ultrasound to identify muscle abnormalities, aiding in early diagnosis and management of this rare genetic disorder.

Area of Science:

  • Medical Imaging
  • Neuromuscular Disorders
  • Pediatric Medicine

Background:

  • Pompe disease is a rare, inherited neuromuscular disorder caused by acid α-glucosidase deficiency.
  • Accurate and early identification of Pompe disease is crucial for effective management and improved patient outcomes.
  • Distinguishing neuropathic from normal muscles in affected children is essential for diagnosis and treatment planning.

Purpose of the Study:

  • To develop and validate a texture-feature parametric imaging method for discriminating normal from neuropathic muscles in children with Pompe disease.
  • To assess the efficacy of ultrasound-based texture analysis in identifying muscle pathology associated with Pompe disease.
  • To differentiate between infantile-onset and late-onset Pompe disease using specific texture features.

Main Methods:

  • Inclusion of 22 children with Pompe disease and 6 healthy children.
  • Acquisition of transverse ultrasound images of rectus femoris and sartorius muscles.
  • Application of Gray-Level Co-occurrence Matrix (GLCM)-based Haralick's features (autocorrelation, contrast, energy, entropy, maximum probability, variance, cluster prominence) for parametric imaging.
  • Utilized stepwise regression for feature selection and Fisher linear discriminant analysis for classification.

Main Results:

  • Optimal feature sets identified for rectus femoris (variance, cluster prominence) and sartorius muscles (energy, variance, cluster prominence).
  • Combined feature sets achieved high diagnostic performance: 94.6% accuracy, 100% specificity, 93.2% sensitivity, and an AUC of 0.98 ± 0.02.
  • Specific texture features (cluster prominence for rectus femoris; autocorrelation, entropy, maximum probability, variance for sartorius) showed significant differences between infantile-onset and late-onset Pompe disease groups (p < 0.05).

Conclusions:

  • Texture-feature parametric imaging is a valuable, non-invasive tool for quantifying skeletal muscle tissue structure in children and newborns.
  • This method effectively distinguishes pathological muscles in Pompe disease from normal muscles, supporting diagnostic capabilities.
  • The technique shows potential for differentiating disease onset types, aiding in personalized treatment strategies for Pompe disease.