Clinical manifestations and management of neurofibromatosis type 1

Semin Pediatr Neurol. 2006 Mar;13(1):2-7. doi: 10.1016/j.spen.2006.01.005.

Abstract

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder with variable expression. The complications are age specific. Neurologic complications include tumors of the peripheral nerves, nerve roots, and plexi; spinal cord compression; dural ectasias; learning disabilities; attention deficit; headaches; seizures; brain tumors; deafness; hydrocephalus; and stroke. High-intensity signals on brain magnetic resonance imaging are a frequent finding without known clinical significance. Most brain tumors are benign and asymptomatic, but malignant brain tumors occur. The major cause of death is malignancy, including brain tumors and malignant peripheral nerve sheath tumors. Management includes genetic counseling, regular eye examinations, and careful physical exams.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Review

MeSH terms

  • Age Factors
  • Cafe-au-Lait Spots / etiology
  • Cafe-au-Lait Spots / pathology
  • Cognition Disorders / etiology
  • Humans
  • Nervous System Diseases / etiology
  • Nervous System Diseases / pathology
  • Nervous System Neoplasms / complications*
  • Nervous System Neoplasms / pathology
  • Nervous System Neoplasms / therapy*
  • Neurofibromatosis 1 / complications*
  • Neurofibromatosis 1 / pathology
  • Neurofibromatosis 1 / therapy*
  • Vascular Diseases / etiology
  • Vascular Diseases / pathology