00:00
How do we diagnose NF2?
Well, it is a genetic condition.
00:04
But like NF1,
we often don't do genetic testing.
00:08
It can be helpful and it's done
in certain circumstances,
but the vast majority of patients
with NF2 are diagnosed clinically,
based on these criteria.
00:17
The most common clinical criteria
to establish a diagnosis of NF2
is the presence of bilateral
vestibular schwannomas,
just like in our case.
00:26
That should be present
by the age of 30.
00:29
And typically, patients with NF2
will have their tumors by 30,
and you should see them
at that time.
00:35
So a patient who does not have
bilateral vestibular schwannomas
on MRI imaging
by the age of 30,
likely does not have
or will develop NF2.
00:45
There are other clinical criteria
that can be met
to establish this diagnosis.
00:49
The presence of
a family history of NF2,
and a unilateral
vestibular schwannoma
is sufficient to
make the diagnosis.
00:55
The presence of a family history and
two other characteristics of NF2,
two other characteristic tumors
like meningiomas, ependymomas,
peripheral nerve schwannomas,
gliomas,
or this juvenile posterior
subcapsular cataract
are also consistent
with a diagnosis of NF2.
01:14
And then there are some other ways
to make this diagnosis
a unilateral vestibular schwannoma
and two other characteristic tumors,
which you can see there,
and multiple meningiomas,
as well as two other
characteristic tumors.
01:25
The point is,
it's not just one tumor,
because meningiomas
and vestibular schwannomas
are amongst the four most
common benign tumors,
brain tumors, that we see.
01:35
These patients have
multiple tumors.
01:37
And that raises the suspicion that
they're not sporadically acquired,
but inherently gained.
01:46
What are some other features
that we see in these patients?
Well, it's not just tumors.
We can see cutaneous lesions.
01:52
And 70% of patients with
cutaneous lesions may be a bit high,
but if you look,
you may find them.
01:58
Neurofibromas can occur
but are much less common
than in patients with NF1.
02:03
And typically the tumors that we see
are schwannomas.
02:06
Neuropathy is common
in these patients,
and we see both
a generalized polyneuropathy
that's usually pretty mild
and only present on exam,
not subjectively
reported by patients,
as well as
manoneuropathies.
02:18
Things like Bell's Palsy or other
single nerve dysfunction syndromes.
02:23
Seizures can occur but are rare.
02:25
Intracranial hypertension, too much
intracranial pressure is also rare,
but can occur particularly in
patients with multiple meningiomas.
02:34
And then we can see
cranial neuropathies
from compression of a tumor
or other causes.
02:38
And that can contribute
to hearing loss,
facial nerve dysfunction
like a Bell's Palsy,
dysphasia, balance dysfunction,
or vagal nerve dysfunction.
02:47
Again, a lot of neurologic symptoms
that can be seen in these patients.
02:51
Many of those which are of
central nervous system origin.