A case of neurofibromatosis and multiple sclerosis

Neurol Sci. 2010 Oct;31(5):631-4. doi: 10.1007/s10072-010-0252-2. Epub 2010 Apr 28.

Abstract

Neurofibromatosis 1 (NF1), also called von Recklinghausen disease or peripheral NF, is a common autosomal-dominant neurocutaneous disorder associated with mutations of the NF 1 gene. The pathogenesis is poorly understood and the disease is characterized by cafè-au-lait spots, neurofibromatous tumors of the skin, Lisch nodules of the iris and many pleiotropic manifestations. The gene responsible for the disorder has been isolated on chromosome 17q11.2. The association of multiple sclerosis with NF is rarely reported in literature. We describe a patient with NF1, who subsequently developed relapsing-remitting multiple sclerosis.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Evoked Potentials, Visual / physiology
  • Female
  • Frontal Lobe / pathology
  • Frontal Lobe / physiopathology
  • Humans
  • Magnetic Resonance Imaging
  • Multiple Sclerosis / complications*
  • Multiple Sclerosis / diagnosis
  • Multiple Sclerosis / metabolism
  • Neurofibromatosis 1 / complications*
  • Neurofibromatosis 1 / diagnosis
  • Neurofibromatosis 1 / genetics
  • Spinal Cord / pathology