Summary
We report on a 5 1/2 year-old boy with chronic progressive polynèuropathy, ataxia, and pyramidal signs. His hair was not curled. Sural nerve biopsy disclosed many axons enlarged by accumulation of 10-nm neurofilaments and a marked variability in the number of myelinated fibers as well as in the amount of axonal enlargements among different fascicles. These findings and the electrophysiological data were consistent with a giant axonal polyneuropathy with a multifocal fiber loss.
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Sabatelli, M., Bertini, E., Servidei, S. et al. Giant axonal neuropathy: report on a case with focal fiber loss. Acta Neuropathol 83, 543–546 (1992). https://doi.org/10.1007/BF00310034
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DOI: https://doi.org/10.1007/BF00310034