Acta Neuropathologica

, Volume 68, Issue 3, pp 201–204 | Cite as

Skeletal muscle pathology of mannosidosis in two siblings with spastic paraplegia

  • H. Kawai
  • H. Nishino
  • Y. Nishida
  • K. Yoneda
  • Y. Yoshida
  • T. Inui
  • K. Masuda
  • S. Saito
Original Works

Summary

Deficiency of α-d-mannosidase was found in two siblings with muscle weakness and spastic paraplegia. A biopsy of the vastus lateralis muscle was studied by light and electron microscopy. Cryostat sections showed mild fiber size variation but no necrosis. Semithin Epon sections revealed many vacuoles in the muscle cells and fibroblasts. Electron microscopy showed that the vacuoles, presumably lysosomal, had a single limiting membrane and contained finely granular or granulo-reticular material, membranous structures, and electron-dense ovoids. The vacuoles were identical with those in lymphocytes and other cells of patients with mannosidosis. Disorganization of sarcomere alignment and widening of intermyofibrillar spaces were also observed. Deficiency of α-d-mannosidase is considered to cause slowly progressing degeneration of muscle fibers.

Key words

Mannosidosis Muscle pathology Lysosome Vacuole 

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Copyright information

© Springer-Verlag 1985

Authors and Affiliations

  • H. Kawai
    • 1
  • H. Nishino
    • 1
  • Y. Nishida
    • 1
  • K. Yoneda
    • 1
  • Y. Yoshida
    • 1
  • T. Inui
    • 1
  • K. Masuda
    • 1
  • S. Saito
    • 1
  1. 1.First Dept. of Internal Medicine, School of MedicineThe University of TokushimaTokushimaJapan

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