"Reducing body"-like inclusions in skeletal muscle in childhood-onset acid maltase deficiency

Acta Neuropathol. 1992;85(1):111-5. doi: 10.1007/BF00304641.

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.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Glucan 1,4-alpha-Glucosidase / deficiency*
  • Glycogen Storage Disease Type II / pathology*
  • Humans
  • Inclusion Bodies / pathology*
  • Inclusion Bodies / ultrastructure
  • Liver / pathology
  • Male
  • Muscles / pathology*
  • Muscles / ultrastructure
  • alpha-Glucosidases

Substances

  • alpha-Glucosidases
  • Glucan 1,4-alpha-Glucosidase