title: Muscle ultrasound in classic infantile and adult Pompe disease: a useful screening tool in adults but not in infants.
abstract: 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.
authors.affiliation: Department of Pediatric Neurology and Developmental Medicine, Hauner Children's Hospital, Ludwig-Maximilians-University, Munich, Germany. Electronic address: katharina.vill@med.uni-muenchen.de.
authors.forename: K
authors.initials: K
authors.lastname: Vill
authors.affiliation: Department of Neurology, Friedrich-Baur Institut, Ludwig-Maximilians-University, Munich, Germany.
authors.forename: J
authors.initials: J
authors.lastname: Schessl
authors.affiliation: Department of Radiology, University Medical Center Regensburg, Germany; Department of Pediatric Radiology, Hauner Children's Hospital, Ludwig-Maximilians-University, Munich, Germany.
authors.forename: V
authors.initials: V
authors.lastname: Teusch
authors.affiliation: Department of Pediatric Neurology and Developmental Medicine, Hauner Children's Hospital, Ludwig-Maximilians-University, Munich, Germany.
authors.forename: S
authors.initials: S
authors.lastname: Schroeder
authors.affiliation: Department of Pediatric Neurology and Developmental Medicine, Hauner Children's Hospital, Ludwig-Maximilians-University, Munich, Germany.
authors.forename: A
authors.initials: A
authors.lastname: Blaschek
authors.affiliation: Department of Neurology, Friedrich-Baur Institut, Ludwig-Maximilians-University, Munich, Germany.
authors.forename: B
authors.initials: B
authors.lastname: Schoser
authors.affiliation: Department of Pediatric Neurology and Developmental Medicine, Hauner Children's Hospital, Ludwig-Maximilians-University, Munich, Germany.
authors.forename: W
authors.initials: W
authors.lastname: Müller-Felber
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000368:Aged; D001706:Biopsy; D002675:Child, Preschool; D015331:Cohort Studies; D005260:Female; D006009:Glycogen Storage Disease Type II / Q000473:pathology*; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000000981:diagnostic imaging* / Q000473:pathology; D018608:Ultrasonography, Doppler; D055815:Young Adult
keywords: Acid maltase deficiency; Adult Pompe disease; GAA-deficiency; Infantile Pompe disease; Muscle ultrasound; Quantitative grey scale analysis