Ultrasonography-Based Qualitative and Quantitative Evaluation Approaches for Pompe Disease

Yueh-Hui Lee,Da-Tian Bau,Hong-Jen Chiou,Tzu-Ching Shih,Hsuan-En Huang,Dau-Ming Niu,Ting-Rong Hsu

doi:10.1007/s40846-019-00502-w

Abstract

PurposeThe 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.MethodsA 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.ResultsQualitative 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.ConclusionThe 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.

Highlights

Pompe disease, acid maltase deficiency (AMD), is referred as glycogen storage disorder (GSD) or glycogenosis II
The AMD patients undergoing enzyme replacement therapy (ERT) accounted for 73%, AMD without clinical symptoms accounted for 27%; server raise of grayscale, the AMD patients undergoing ERT accounted for 89%, AMD without clinical symptoms accounted for 11%
In our previous study [33], we retrospectively evaluated 43 Pompe disease patients with muscle ultrasound to establish a system of severity grading and compared with clinical evaluations (i.e. serum levels including alanine transaminase (ALT), aspartate transaminase (AST), creatine kinase (CK), and lactate dehydrogenase (LDH))

Summary

Introduction

Acid maltase deficiency (AMD), is referred as glycogen storage disorder (GSD) or glycogenosis II. It is an autosomal recessive human disease caused by deficiency of the enzyme acid alpha glucosidase (GAA), leading to accumulation of the lysosomal glycogen especially in the heart, skeletal and smooth muscle, as well as the nervous system [1]. The simple and essential sugar supply to generate energy and maintain human activities, can be picked up from all kinds of food and predominantly stored as glycogen in the liver, adipose tissue, and muscles. Abnormal GAA activity makes the glycogen unable to be decomposed and leads to its persistence accumulation. Glycogen accumulates with the lysosomes of multiple tissues, in

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