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DIAGNOSIS

Diagnostic Criteria for NF1

Two or more of the following:

  1. Six or more café-au-lait spots 1.5 cm or larger in post-pubertal individuals, 0.5 cm or larger in pre-pubertal individuals
  2. Two or more neurofibromas of any type or one or more plexiform neurofibroma
  3. Freckling in the axilla or groin
  4. Optic glioma (tumor of the optic pathway)
  5. Two or more Lisch nodules (benign iris hamartomas)
  6. A distinctive bony lesion: dysplasia of the sphenoid bone or dysplasia or thinning of long bone cortex
  7. A first-degree relative with NF1


Diagnostic Criteria for NF2

Confirmed (definite) NF2 :

  1. Bilateral vestibular schwannomas (VS)

Presumptive (probable) NF2 :

  1. Family history of NF2 (first degree family relative) plus:
  2. Unilateral VS or any two of the following:
    meningioma, glioma, schwannoma, juvenile posterior subcapsular lenticular opacities/juvenile cortical cataract

Individuals with the following clinical features should be evaluated for NF2:

  1. Unilateral VS plus at least two of any of the following: meningioma, glioma, schwannoma, juvenile posterior subcapsular lenticular opacities/juvenile cortical cataract
  2. Multiple meningiomas (2 or more) plus unilateral VS or any two of the following: glioma, schwannoma, juvenile posterior subcapsular lenticular opacities/juvenile cortical cataract
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