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DIAGNOSIS
Diagnostic Criteria for NF1
Two or more of the
following:
- 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
- Two or more neurofibromas of any type or one or more plexiform
neurofibroma
- Freckling in the axilla or groin
- Optic glioma (tumor of the optic pathway)
- Two or more Lisch nodules (benign iris hamartomas)
- A distinctive bony lesion: dysplasia of the sphenoid bone or
dysplasia or thinning of long bone cortex
- A first-degree relative with NF1
Diagnostic Criteria for NF2
Confirmed (definite) NF2 :
- Bilateral vestibular schwannomas (VS)
Presumptive (probable)
NF2 :
- Family history of NF2 (first degree family relative)
plus:
- 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:
- Unilateral VS plus at least two of any of the following:
meningioma, glioma, schwannoma, juvenile posterior
subcapsular lenticular
opacities/juvenile cortical cataract
- 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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