NF-2

Question 1

What is the prevalence of NF-2?

Answer 1

1 in 60 000

Question 2

What is the inheritance for NF-2?

Answer 2

Autosomal dominant

Question 3

What percentage of NF-2 are caused by de novo mutations?

Answer 3

50%

Question 4

What are the main diagnostic criteria for NF-2?

Answer 4

Bilateral vestibular schwannomas or family history of NF2 PLUS

1. unilateral vestibular schwannoma or
2. any two of: meningioma, glioma, neurofibroma, schwannoma, posterior subcapsular lenticular opacities

Question 5

What are additional criteria for NF-2?

Answer 5

Unilateral vestibular schwannoma plus any two of:
1. Meningioma
2. Glioma
3. Neurofibroma
4. Schwannoma
5. Posteriro subcapsular lenticular opacities
OR
Multiple meningioma (two or more) plus unilateral VS or any two of:
1. Glioma
2. Neurofibroma
3. Schwannoma
4. Cataract

Question 6

What are screening recommendations for NF-2?

Answer 6

1. MRI q2y starting at age 10-12y until age 20y, then q3-5y

2. Annual audiology testing incld. auditory brainstem response