Neurofibromatosis 2 in the pediatric age group

Neurosurgery. 1993 Jul;33(1):92-6. doi: 10.1227/00006123-199307000-00014.

Abstract

Bilateral acoustic neurofibromatosis or neurofibromatosis 2 (NF2) is an autosomal dominant disease predisposing to the formation of multiple tumors in the central and peripheral nervous system. Vestibular schwannomas (VSs) are considered to be the hallmark of the disease, but other tumors and ocular findings occur as well. In patients that do not carry the NF2 mutation, VSs usually occur in the fifth or sixth decade of life. VSs in patients with NF2 are often bilateral and become symptomatic in the third or fourth decade of life. In order to define the early manifestations of NF2, we examined nine children who either had one parent with NF2 or had multiple skin or spinal tumors suggestive of NF2. In addition to neurological, dermatological, and ocular examinations, all patients were studied by gadolinium-enhanced magnetic resonance imaging of the brain and spine. None of the children exhibited symptoms or signs due to VSs. However, VSs were detected during the neuroradiological work-up in six children. Seven children developed symptoms or signs due to skin or spinal tumors. Slit lamp examination detected cataracts in four patients as young as 10 years of age. The diagnosis of NF2 in the pediatric age group requires a high degree of suspicion and should be considered in children with multiple central nervous system or skin tumors without cafe-au-lait spots or Lisch nodules. Because VSs are unlikely to produce the signs seen at the time of admission, careful examination of the skin and eyes is necessary and should be followed by gadolinium-enhanced magnetic resonance imaging of the brain and spine. First-degree relatives need to be examined as well.

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Brain Neoplasms / genetics
  • Brain Neoplasms / pathology
  • Cataract / genetics
  • Child
  • Child, Preschool
  • Cranial Nerve Neoplasms / pathology
  • Ependymoma / genetics
  • Ependymoma / pathology
  • Female
  • Frontal Lobe
  • Hamartoma / genetics
  • Hamartoma / pathology
  • Humans
  • Male
  • Meningeal Neoplasms / genetics
  • Meningeal Neoplasms / pathology
  • Meningioma / genetics
  • Meningioma / pathology
  • Neoplasms, Multiple Primary / genetics
  • Neoplasms, Multiple Primary / pathology
  • Neoplasms, Second Primary / genetics
  • Neoplasms, Second Primary / pathology
  • Neurilemmoma / genetics
  • Neurilemmoma / pathology
  • Neurofibromatosis 2* / diagnosis
  • Neurofibromatosis 2* / genetics
  • Neurofibromatosis 2* / pathology
  • Peripheral Nervous System Neoplasms / genetics
  • Peripheral Nervous System Neoplasms / pathology
  • Skin Neoplasms / genetics
  • Skin Neoplasms / pathology
  • Spinal Cord Neoplasms / genetics
  • Spinal Cord Neoplasms / pathology
  • Spinal Nerve Roots
  • Trigeminal Nerve
  • Vision Disorders / genetics
  • Visual Acuity