Muscle ultrasound in classic infantile and adult Pompe disease: A useful screening tool in adults but not in infants

作者：Vill K^*; Schessl J; Teusch V; Schroeder S; Blaschek A; Schoser B; Mueller Felber W

来源：Neuromuscular Disorders, 2015, 25(2): 120-126.

DOI：10.1016/j.nmd.2014.09.016

• Infantile Pompe disease
• Adult Pompe disease
• Acid maltase deficiency
• GAA-deficiency
• Muscle ultrasound
• Quantitative grey scale analysis

A cohort of 4 infantile and 15 adult Pompe patients has been investigated regarding correlation between strength and ultrasound of skeletal musculature. In adults, muscle ultrasound is useful to assess clinical and subclinical involvement of muscles. In this study, visible sonographic changes were found in every clinically affected muscle, using a modified Heckmatt scale. In some muscles morphologic changes preceded weakness. Regarding the anatomical pattern of involvement, our findings do not support the hypothesis of a specific pattern with a higher vulnerability of vastus intermedius than rectus femoris, which has been postulated before. A frequent sparing of triceps brachii could be confirmed. Intramuscular abnormalities occurred in a focal, a diffuse, or an intermediate pattern, with characteristics of both. In contrast to muscular dystrophies, bone echogencity was not markedly decreased in Pompe disease even in an advanced stage. In infants, muscle ultrasound showed no distinct pathology even in clinically severely affected children and should not be used as a screening method for infantile Pompe disease.

• 出版日期2015-2