The diagnosis and management of neurofibromatosis 2 in childhood

Semin Pediatr Neurol. 1998 Dec;5(4):243-52. doi: 10.1016/s1071-9091(98)80003-x.

Abstract

Neurofibromatosis 2 (NF2) is an autosomal-dominant condition that causes multiple benign nervous system tumors, especially vestibular schwannoma. Although frequently confused with the more common neurofibromatosis 1, NF2 presents a distinct set of diagnostic, genetic, and management issues. The presentation and natural history of NF2 differs in children and adults, with eighth nerve dysfunction often overshadowed by the effects of other tumors on the nervous system. Molecular diagnostics is an important tool for early recognition of NF2, and when performed in the context of appropriate counseling and follow-up, may lead to a better final outcome of the disease. Further research into the molecular genetic etiology of NF2 promises to broaden the possibilities of therapy for this devastating disorder.

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Chromosome Aberrations / genetics
  • Chromosome Disorders
  • Genes, Dominant / genetics
  • Genetic Predisposition to Disease / genetics
  • Humans
  • Infant
  • Infant, Newborn
  • Neurofibromatosis 2 / diagnosis*
  • Neurofibromatosis 2 / genetics
  • Neurofibromatosis 2 / therapy