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Neurofibromatosis Type 2

Reviewed 06/2021
 


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

Diagnostic criteria (2
  • Any one of: bilateral vestibular schwannomas before age 70 years or unilateral vestibular schwannoma before age 70 years and first-degree relative with NF2

  • Any two of...

TREATMENT

  • Hearing augmentation; speech therapy, as needed

  • Vestibular schwannomas

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

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...

ADDITIONAL READING

CODES

ICD10

Q85.02 Neurofibromatosis, type 2 

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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