[Congenital hereditary motor and sensory neuropathy]

Rev Neurol (Paris). 1991;147(8-9):577-85.
[Article in French]

Abstract

The authors report 6 cases of hereditary sensorimotor neuropathy (HSMN) presenting with the following clinical features: (1) severe outcome (3 out of 6 patients died before the age of 4 years), and (2) intellectual impairment (3 out of 6 cases). Histopathological study of nerve biopsies gave heterogeneous results: there was one case of axonal neuropathy (HSMN II of Dyck and Lambert), one case of demyelinating neuropathy with Schwann's cell proliferation (HSMN III of Dyck and Lambert), and one case of giant axonal neuropathy. The last three cases displayed an original pattern hitherto unknown in classical delayed HSMN, with complete disappearance of myelinated sheaths and Schwann's cell proliferation. This particular pattern did not seem to be due to the biopsy being performed at an early stage, since in one case a second biopsy showed the same histological features.

Publication types

  • English Abstract
  • Review

MeSH terms

  • Female
  • Hereditary Sensory and Motor Neuropathy / genetics*
  • Hereditary Sensory and Motor Neuropathy / pathology
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Microscopy, Electron
  • Musculocutaneous Nerve / pathology
  • Musculocutaneous Nerve / ultrastructure