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

A study of brain and striated muscle

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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.

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Authors and Affiliations

  1. Department of Neuropathology, Born-Bunge Foundation, 59, F. Williotstraat, B-2600, Berchem(Antwerp), Belgium

    J. J. Martin (Research Fellow N.F.W.O.), Th. de Barsy (Research Fellow F.N.R.S.), F. Van Hoof (Research Fellow F.N.R.M.) & G. Palladini

  2. Laboratoire de Chimie Physiologique, Université de Louvain, 6, Dekenstraat, D-3000, Leuven, Belgium

    J. J. Martin (Research Fellow N.F.W.O.), Th. de Barsy (Research Fellow F.N.R.S.), F. Van Hoof (Research Fellow F.N.R.M.) & G. Palladini

  3. Istituto di Anatomia comparata „B. Grassi”, 50, Via Alfonso Borelli, I-00161, Roma, Italy

    G. Palladini

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  1. J. J. Martin
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Martin, J.J., de Barsy, T., Van Hoof, F. et al. Pompe's disease: An inborn lysosomal disorder with storage of glycogen. Acta Neuropathol 23, 229–244 (1973). https://doi.org/10.1007/BF00687878

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