title: "Reducing body"-like inclusions in skeletal muscle in childhood-onset acid maltase deficiency.
abstract: Unusual inclusions with some of the features of "reducing bodies" were encountered in the skeletal muscle biopsy of a 2.5-year-old boy with childhood-onset acid maltase deficiency. The biopsy revealed a vacuolar myopathy with lysosomal storage of glycogen and eosinophilic refractile inclusions in myofibers, which appeared dark blue with the menadione-nitroblue tetrazolium reaction. The significance of the association of inclusions with reducing properties in the setting of acid maltase deficiency is discussed.
authors.affiliation: Department of Pathology, Hospital for Sick Children, University of Toronto, Ontario, Canada.
authors.forename: V
authors.initials: V
authors.lastname: Jay
authors.forename: J
authors.initials: J
authors.lastname: Christodoulou
authors.forename: A
authors.initials: A
authors.lastname: Mercer-Connolly
authors.forename: R R
authors.initials: RR
authors.lastname: McInnes
mesh_terms: D002675:Child, Preschool; D005087:Glucan 1,4-alpha-Glucosidase / Q000172:deficiency*; D006009:Glycogen Storage Disease Type II / Q000473:pathology*; D006801:Humans; D002479:Inclusion Bodies / Q000473:pathology* / Q000648:ultrastructure; D008099:Liver / Q000473:pathology; D008297:Male; D009132:Muscles / Q000473:pathology* / Q000648:ultrastructure; D000520:alpha-Glucosidases
chemical_list: D000520:alpha-Glucosidases; D005087:Glucan 1,4-alpha-Glucosidase