"Reducing body"-like inclusions in skeletal muscle in childhood-onset acid maltase deficiency.
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.
Jay
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Department of Pathology, Hospital for Sick Children, University of Toronto, Ontario, Canada.
Christodoulou
J
J
Mercer-Connolly
A
A
McInnes
R R
RR
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
D000520:alpha-Glucosidases; D005087:Glucan 1,4-alpha-Glucosidase