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Peripheral neuropathy in the Chediak-Higashi syndrome

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Summary

The clinical features of a brother and sister with the Chediak-Higashi syndrome (CHS) are reported. Both showed evidence of a sensory neuropathy associated with central nervous system involvement. Nerve conduction studies indicated an “axonal” neuropathy. Sural nerve biopsy in the brother demonstrated a loss of myelinated nerve fibres, particularly those of larger size, and of unmyelinated axons. In contradistinction to some previous reports, giant lysosomes in Schwann cells were not observed and there were no inflammatory changes. Electron microscopy and teased-fibre studies showed no evidence of demyelination. It is concluded that the neuropathy of CHS is of axonal type. Its mechanism remains obscure.

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Authors and Affiliations

  1. Department of neurological Science, Royal Free Hospital School of Medicine, Rowland Hill Street, NW3 2PF, London, UK

    V. P. Misra, R. H. M. King, J. R. Muddle & P. K. Thomas

  2. Institute of Neurology, Queen Square, WC1N 3BG, London, UK

    A. E. Harding & P. K. Thomas

Authors
  1. V. P. Misra
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  2. R. H. M. King
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  3. A. E. Harding
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  4. J. R. Muddle
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  5. P. K. Thomas
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Additional information

Supported in part by grants from the Medical Research Council of Great Britain, Ciba-Geigy Ltd, Basel and the Central Research Fund of London University. Financial support was also received from Mr. Michael Holmes. V.P.M. is an Efamol Research fellow

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Misra, V.P., King, R.H.M., Harding, A.E. et al. Peripheral neuropathy in the Chediak-Higashi syndrome. Acta Neuropathol 81, 354–358 (1991). https://doi.org/10.1007/BF00305881

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  • DOI: https://doi.org/10.1007/BF00305881

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