title: Muscle biopsy in Pompe disease.
abstract: Pompe disease (PD) can be diagnosed by measuring alpha-glucosidase levels or by identifying mutations in the gene enzyme. Muscle biopsies can aid diagnosis in doubtful cases.
  
  
  METHODS
  A review of muscle biopsy from 19 cases of PD (infantile, 6 cases; childhood, 4 cases; and juvenile/adult, 9 cases).
  
  
  RESULTS
  Vacuoles with or without glycogen storage were found in 18 cases. All cases had increased acid phosphatase activity. The vacuole frequency varied (almost all fibers in the infantile form to only a few in the juvenile/adult form). Atrophy of type 1 and 2 fibers was frequent in all forms. Atrophic angular fibers in the NADH-tetrazolium reductase and nonspecific esterase activity were observed in 4/9 of the juvenile/adult cases.
  
  
  CONCLUSIONS
  Increased acid phosphatase activity and vacuoles were the primary findings. Most vacuoles were filled with glycogen, and the adult form of the disease had fewer fibers with vacuoles than the infantile or childhood forms.
authors.affiliation: Neuromuscular/Neurology Division, Internal Medicine Department, Hospital de Clínicas da Universidade Federal do Paraná, Curitiba PR, Brazil. werneck@hc.ufpr.br
authors.forename: Lineu Cesar
authors.initials: LC
authors.lastname: Werneck
authors.forename: Paulo José
authors.initials: PJ
authors.lastname: Lorenzoni
authors.forename: Cláudia Suemi Kamoi
authors.initials: CS
authors.lastname: Kay
authors.forename: Rosana Herminia
authors.initials: RH
authors.lastname: Scola
mesh_terms: D000293:Adolescent; D000328:Adult; D017677:Age Distribution; D001706:Biopsy; D002648:Child; D002675:Child, Preschool; D004576:Electromyography; D005260:Female; D006009:Glycogen Storage Disease Type II / Q000201:enzymology / Q000473:pathology*; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000201:enzymology / Q000473:pathology*; D012189:Retrospective Studies; D017678:Sex Distribution; D013997:Time Factors; D014617:Vacuoles / Q000201:enzymology / Q000473:pathology; D055815:Young Adult