Mononeuropathy multiplex as the initial manifestation of neurofibromatosis type 2

Neurology. 2001 Jun 26;56(12):1766-8. doi: 10.1212/wnl.56.12.1766.

Abstract

The authors report a patient with neurofibromatosis type 2 (NF2) presenting with an axonal mononeuropathy multiplex. Sural nerve biopsy showed small scattered groups of Schwann cells transformed into irregular branching cells with abnormal cell-cell contacts. The authors hypothesize that defective Schwann cell function, due to inactivation of the NF2 gene product merlin, leads to changes in morphology, cell-cell contact, and growth, and finally to degeneration of axons.

Publication types

  • Case Reports

MeSH terms

  • Axons / pathology
  • Axons / ultrastructure
  • Female
  • Humans
  • Microscopy, Electron
  • Middle Aged
  • Neurofibromatosis 2 / pathology*
  • Peripheral Nervous System Diseases / pathology*
  • Schwann Cells / ultrastructure
  • Sural Nerve / pathology