Infantile neuroaxonal dystrophy and giant axonal neuropathy: Are they related?

Authors

  • Dr J. H. Begeer MD,

    Corresponding author
    1. Departments of Neurology, Pediatrics, Pathology, and Electron Microscopy, University Hospital and State University, Groningen, The Netherlands
    • Department of Neurology, University Hospital, Oostersingel 59, 9713 EZ Groningen, The Netherlands
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  • H. J. Houthoff MD,

    1. Departments of Neurology, Pediatrics, Pathology, and Electron Microscopy, University Hospital and State University, Groningen, The Netherlands
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  • T. W. Van Weerden MD,

    1. Departments of Neurology, Pediatrics, Pathology, and Electron Microscopy, University Hospital and State University, Groningen, The Netherlands
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  • C. J. De Groot MD,

    1. Departments of Neurology, Pediatrics, Pathology, and Electron Microscopy, University Hospital and State University, Groningen, The Netherlands
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  • E. H. Blaauw,

    1. Departments of Neurology, Pediatrics, Pathology, and Electron Microscopy, University Hospital and State University, Groningen, The Netherlands
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  • R. Le Coultre MD

    1. Departments of Neurology, Pediatrics, Pathology, and Electron Microscopy, University Hospital and State University, Groningen, The Netherlands
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Abstract

Light and electron microscopic findings from two sural nerve biopsies obtained at a one-year interval from a patient with the clinical features of Seitelberger's disease are described. Ballooned axons with accumulations of membranous profiles, vesicles, mitochondria, and a homogeneous center were present, and there were masses of 90 A filaments in endothelial, endoneurial, perineurial, and Schwann cells. These pathological alterations were less prominent in the second nerve biopsy, which showed a more pronounced decrease in myelinated fibers. The case shows that a generalized increase of 90 A filaments in structures of the peripheral nervous system is not a phenomenon exclusively occurring in patients with giant axonal neuropathy and, furthermore, that it may be a transitory feature.

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