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Updated: Dec 26 2021

Neurofibromatosis Type 2

  • 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
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