Updated: 8/4/2019

Neurofibromatosis Type 2

Topic
Review Topic
0
0
https://upload.medbullets.com/topic/422781/images/nf2.jpg
Snapshot
  • A 23-year-old man presents to the emergency department for worsening hearing loss and headaches. Medical history is otherwise noncontributory. Family history is notable for his mother having a meningioma and progressive hearing loss. Physical examination is notable for papilledema and bilateral sensorineural hearing loss. An MRI brain with and without contrast demonstrates bilateral enhancing lesions by the internal acoustic meatus and an extra-axial mass arising from the dura.
Introduction
  • Overview
    • a genetic disorder characterized by
      • bilateral vestibular schwannomas
      • meningiomas
      • ependymomas
      • juvenile cataracts
  • Epidemiology
    • risk factors
      • family history
  • Pathophysiology
    • neurofibromatosis type 2 gene encodes merlin (also known as schwannomin), a tumor suppressor 
      • loss of merlin leads to abnormal cellular growth and proliferation
  • Genetics
    • autosomal dominant mutation in the neurofibromatosis type 2 gene on chromosome 22
Presentation
  • Symptoms
    • hearing loss
    • tinnitus
    • vertigo
    • issues with balance
  • Physical exam
    • sensorineural hearing loss
Imaging
  • MRI of brain and spine with and without gadolinium
    • indication
      • imaging study of choice
    • findings
      • bilateral vestibular schwannoma 
      • meningioma
      • spina ependymoma
Studies
  • Genetic testing
    • indication
      • confirms the diagnosis
Differential
  • Neurofibromatosis type 1
    • differentiating factors
      • many café-au-lait macules
      • freckling in axillary or inguinal areas
      • iris hamartomas (Lisch nodules)
      • neurofibromas
Treatment
  • Surgical
    • resection
      • indication
        • preferred treatment option for resection of the vestibular schwannoma
          • radiation therapy is an alternative; however, there is a risk of malignancy transformation or development of a new primary tumor
Complications
  • Hearing loss
  • Seizures and brainstem compression
  • Cataracts
  • Peripheral neuropathy
 

Please rate topic.

Average 5.0 of 1 Ratings

Thank you for rating! Please vote below and help us build the most advanced adaptive learning platform in medicine

The complexity of this topic is appropriate for?
How important is this topic for board examinations?
How important is this topic for clinical practice?
Topic COMMENTS (0)
Private Note