The sooner diagnosis of Neurofibromatosis Type 2 (NF2) is made, the easier it can be to manage NF2 specific health issues.
There have been different standards for diagnosis of NF2 since it was acknowledged as a condition different from NF1 and again when Schwannomatosis was classified as a separate condition.
An individual might not have tumor formation seen by MRI till 20 years old, but as of 1997 the diagnostic criteria for NF2, known as the Manchester Criteria, requires one of the following three conditions to apply:
|Primary Finding||Added Features needed for Diagnosis|
|Bilateral Vestibular Schwannoma
|First degree relative with NF2
||Unilateral Vestibular Schwannoma, or
Any 2 other NF2-associated lessons:
Meningioma, Schwannoma, Glioma, Cataracts
|Unilateral Vestibular Schwannoma
||Any 2 other NF2-associated lesions:
Meningioma, Schwannoma, Glioma, Neurofibroma, Cataract
||Unilateral Vestibules Schwannoma, or
Any 2 other NF2 Associated lesions:
Schwannoma, Glioma, Neurofibroma, Cataracts
If an individual is the first in their family to have NF2, with Spontaneous NF2, which applies to 50% of the NF2 population, may not show all signs of the NF2 Manchester Criteria. These individuals may only develop Single Sided Vestibular Schwannoma, and a possible combination of other tumor masses found in an MRI. In the case of Spontaneous NF2, the VS and other tumor masses may not show up until possibly over the age of 50 and would require more than a brain MRI to rule out. This is an important thing for individuals with Single Sided VS to know since:
Diagnosis can be determined definitively through the following methods:
If a parent of a child is Mosaic, or may have NF2 and is looking for consideration if a child may or may not have NF2, there are things that can indicate an individual might have NF2 that are outside of the criteria, which would not mean they have NF2, but can be a good justification of additional testing to confirm if the child does or does not have NF2.
The blood in the body contains many different components, including white blood cells. White blood cells are the component of the immune system. The amount of white blood cells increases when an individual's body is fighting something, typically this is from germs for infections. However, if an individual is fighting tumor development, the white blood cell levels are typically higher than they should be.
Again, this could mean simply an infection or cold of some sort, but if a child may have NF2 and the white blood cells are high, follow up on NF2 criteria would be wise.
It is possible for a person with NF2 to develop Café-au-lait Spots, however it is never something to use as a method for determination of diagnosis of NF2 as, possibly less than half the NF2 population develops them and when these do develop, it may be up to and never more than six.
Not all individuals with NF2 develop skin surface tumors; these are more of a NF1 issue. When they do develop the Cutaneous (Dermal) , and Subcutaneous, in tumor biopsy it would be found that tumors would be Schwannoma, unlikely to be Neurofibroma. In a Dermatological determination to determine of an individual who is already in consideration as having NF2 for other diagnosis reasons, a tumor biopsy could aid in determination for or against the diagnosis.
It is not uncommon to have NF2 and develop skin surface tumors at all, but an individual may develop several over their lifetime. It is rare but also possible for an individual with NF2 to develop many of these, but never as extensive as skin tumor development for people with NF1.
Some research papers imply a person with NF2 can develop Neurofibroma skin tumors.
Many with NF2 are not diagnosed with NF2 till immediate surgery is needed when headaches and other issues are not followed up on by doctors who do not consider tumors as a possible issue, or health issues might only be from review of a CT scan. CT scans have their advantages, but in the center of the brain in soft matter often miss imaging of small tumors or things further away from the skull.
Tumor masses are often listed on MRI reports as simply a Lesion, since it is not possible to determine a tumor type with an MRI alone, making it important for additional diagnosis methods to be done to determine the cause of the Lesions found in an MRI. This is less likely when strong clear MRI's with close gaps between each scan. If an individual may have NF2 and found early the tumors may be too small to otherwise be found.
People diagnosed with NF2 need to know what doctor types to see and what they do, in addition to having material on hand to share with regular doctors treating them locally.
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