Acta Neuropathologica

, Volume 23, Issue 3, pp 229–244

Pompe's disease: An inborn lysosomal disorder with storage of glycogen

A study of brain and striated muscle

Authors

  • J. J. Martin
    • Department of NeuropathologyBorn-Bunge Foundation
    • Laboratoire de Chimie PhysiologiqueUniversité de Louvain
  • Th. de Barsy
    • Department of NeuropathologyBorn-Bunge Foundation
    • Laboratoire de Chimie PhysiologiqueUniversité de Louvain
  • F. Van Hoof
    • Department of NeuropathologyBorn-Bunge Foundation
    • Laboratoire de Chimie PhysiologiqueUniversité de Louvain
  • G. Palladini
    • Department of NeuropathologyBorn-Bunge Foundation
    • Laboratoire de Chimie PhysiologiqueUniversité de Louvain
    • Istituto di Anatomia comparata „B. Grassi”
Original Investigations

DOI: 10.1007/BF00687878

Cite this article as:
Martin, J.J., de Barsy, T., Van Hoof, F. et al. Acta Neuropathol (1973) 23: 229. doi:10.1007/BF00687878

Summary

Anatomopathological studies are reported in a new case of Pompe's disease (glycogenosis type II). The topography of the selective neuronal involvement is again stressed and more accurately localized regarding the thalamus. The accumulation of glycogen-filled vacuoles in astroglia, Schwann cells and myenteric plexus is demonstrated by light or electron microscopy or both.

The histochemical features of the basophilic material coexisting with glycogen in striated muscle are described. Our results indicate a close relationship between glycogen and the basophilic material; they indicate that phosphate groups may be responsible for the alcianophilia and metachromasia at low pH.

Ultrastructural studies of biopsy and autopsy specimens of striated muscle show that much of the glycogen is in vacuoles which are most probably of lysosomal nature.

Key words

Pompe's DiseaseGlycogen-filled VacuolesBasophilic SubstanceGlycogenLysosomes

Copyright information

© Springer-Verlag 1973