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Severe polyneuropathy in tangier disease mimicking syringomyelia or leprosy

Clinical, biochemical, electrophysiological, and morphological evaluation, including electron microscopy of nerve, muscle, and skin biopsies

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Summary

Polyneuropathy in Tangier disease can be divided into three clinical types. The most severe form (type III) with a syringomyelia-like syndrome has been described in three cases only. Here, a fourth case of this type is presented. Because of unusual trophic disturbances even leprosy was suspected. Electrodiagnostic findings, including evoked cerebral potentials in this case, were suggestive of a generalized neuropathy with some degree of primary or secondary demyelination and implied possible impairment of central structures. Sural nerve biopsy, including electron microscopy and quantitative analysis, revealed a predominant reduction of smaller myelinated and unmyelinated fibres. The main morphological feature was the abundance of abnormal non-membrane-bound vacuoles in Schwann cells, mostly of the unmyelinated type, and in some endoneurial fibroblasts, macrophages and perineurial cells. There was no inverse relationship between lipid vacuoles and axons in Schwann cell complexes as supected by others. An excess of endoneurial collagen as well as an increased fascicular area were obvious. In five skin biopsy specimens of different regions typical vacuoles were noted in Schwann cells, histiocytes, nevus cells, and rarely in perineurial cells.

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Authors and Affiliations

  1. Department of Neurology, University of Cologne, D-5000, Köln, Federal Republic of Germany

    E. Gibbels & W. F. Haupt

  2. Department of General Pathology and Pathological Anatomy, University of Freiburg/Br., D-7800, Freiburg i. Br., Federal Republic of Germany

    H. E. Schaefer

  3. Department of Dermatology, University of Frankfurt/M., D-6000, Frankfurt/M., Federal Republic of Germany

    U. Runne

  4. Department of Neuropathology, Medical Faculty of RWTH Aachen, D-5100, Aachen, Federal Republic of Germany

    J. M. Schröder

  5. Department of Clinical Chemistry and Laboratory Medicine, University of Münster, D-4400, Münster, Federal Republic of Germany

    G. Assmann

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  1. E. Gibbels
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  5. W. F. Haupt
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Gibbels, E., Schaefer, H.E., Runne, U. et al. Severe polyneuropathy in tangier disease mimicking syringomyelia or leprosy. J Neurol 232, 283–294 (1985). https://doi.org/10.1007/BF00313867

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  • DOI: https://doi.org/10.1007/BF00313867

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