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Neurofibromatosis Type 2

Michele Roberts, MD, PhD Reviewed 06/2018
 


BASICS

DESCRIPTION

  • Neurofibromatosis type 1 (NF1) and neurofibromatosis type 2 (NF2) are neurocutaneous syndromes (phakomatoses). Although they share a name and both are autosomal dominant disorders, t...

DIAGNOSIS

Manchester Diagnostic Criteria (www.nfcalifornia.org/DiagnosticNF2.aspx): 
  • Bilateral vestibular schwannoma or family history of NF2

    • Unilateral vestibular schwannoma

    • Any two of meningioma, neuro...

TREATMENT

  • Hearing augmentation; speech therapy, as needed

  • Vestibular schwannomas

    • Treatment to preserve function, quality of life when there is a risk of brainstem compression, hearing loss, facial nerve...

ONGOING CARE

Multidisciplinary team should include a neurologist, geneticist, neurosurgeon, otolaryngologist, and neuroradiologist. 

FOLLOW-UP RECOMMENDATIONS

Patient Monitoring

  • Children of affected pare...

REFERENCES

1
Ruggieri M, Praticò AD, Serra A, et al. Childhood neurofibromatosis type 2 (NF2) and related disorders: from bench to bedside and biologically targeted therapies. Acta Otorhinolaryngol Ita...

ADDITIONAL READING

CODES

ICD10

Q85.02 Neurofibromatosis, type 2 

ICD9

237.72 Neurofibromatosis, type 2 [acoustic neurofibromatosis] 

SNOMED

92503002 neurofibromatosis, type 2 (disorder) 

CLINICAL PEARLS

  • NF1 and NF2 are two distinct genetic disorders.

  • Vestibular schwannoma should be considered NF2 until proven otherwise.

  • Schwannomas of NF2 rarely (if ever) undergo malignant transformatio...

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