Neurofibromatous neuropathy

Muscle Nerve. 1990 Feb;13(2):93-101. doi: 10.1002/mus.880130202.


Three cases of chronic distal sensorimotor neuropathy are described in patients with neurofibromatosis. One had type 2 or central neurofibromatosis with a chromosome 22 deletion; the precise form of the disease was not established in the other two. A striking clinical feature was a diffuse nodular enlargement of the peripheral nerves. Nerve biopsies from all three cases demonstrated the presence of neurofibromatous pathology. Neurofibromatous neuropathy constitutes a rare manifestation of neurofibromatosis, related to diffuse neurofibromatous changes in the peripheral nerves.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Chromosome Deletion
  • Chromosomes, Human, Pair 22
  • Humans
  • Male
  • Neurofibromatosis 1 / complications*
  • Neurofibromatosis 1 / genetics
  • Neurofibromatosis 1 / pathology
  • Neuroma, Acoustic / complications
  • Peripheral Nervous System Diseases / complications*
  • Peripheral Nervous System Diseases / pathology