What is NF 2?

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Neurofibromatosis type 2 (NF 2) is a disorder characterized by the growth of noncancerous tumors throughout the nervous system. The most common tumors associated with Neurofibromatosis type 2 are called vestibular schwannomas or acoustic neuromas.  These are benign, usually slow-growing tumors that develop from the balance and hearing nerves supplying the inner ear.

If tumors develop in other parts of the brain or spinal cord, signs and symptoms vary according to their location. Complications of tumor growth can include changes in vision or sensation, numbness or weakness in the arms or legs, and fluid buildup in the brain.  Many people with NF2 have posterior sub capsular cataracts in one or both eyes, often beginning in childhood.

NF2 can cause deafness, severe balance problems, facial nerve paralysis, spinal cord compression, swallowing difficulties and/or eye function complications.  Autosomal dominant disorders, approximately 50% of the cases are inherited.  This means that if one parent has NF2, any child of that parent has a 50-50 chance of having it.  The other 50% of the cases are accounted for by a new mutation.

1 Diagnostic Criteria for NF 2

Neurofibromatosis 2 (NF 2) is distinguished by multiple brain and spinal tumors that can cause deafness, severe balance problems, facial nerve paralysis, spinal cord compression, swallowing difficulties or eye function complications.  Neurofibromatosis 1 and Neurofibromatosis 2, share the same name, but are very different disorders

Although NF-2 is an autosomal inherited disease, it is also important to understand that 50% of the cases are “sporadic” - meaning it does NOT have to be inherited to originate.

Confirmed (definite) NF2:

·      Bilateral vestibular schwannomas (VS) (also known as acoustic neuroma)

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 opacity, 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

2 Effects of NF 2

Neurofibromatosis type 2 (NF 2) is an autosomal dominant genetic disorder that causes tumors to form on the nerves of the central nervous system, in the brain, and on the spine. It affects one in 25,000 males and females of all races and ethnic groups. The NF 2 gene is located on chromosome 22.

3 NF 2 Body Sheet

 

 

 


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