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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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