00:01
So let's talk a little bit
more about
the key manifestations of NF2.
00:04
And the things I want you
to know about
are vestibular schwannomas,
intracranial meningiomas,
and spinal ependymomas.
00:12
You need to know that those
are associated with NF2.
00:15
And when you see
a patient or a vignette,
with those three tumor types,
the first thing you should think of
is NF2.
00:21
We'll also think about
spinal schwannomas,
which can occur including in the
bulbar fibers and cranial nerves,
as well as this juvenile posterior
subcapsular cataract,
which is uncommon
to see sporadically
but can be seen in this condition.
00:36
So let's first start with
vestibular schwannomas.
00:38
How do they present?
Well, there are tumors
on the hearing nerve.
00:42
So patients present
with hearing loss.
00:44
And this is sensory neural
hearing loss.
00:46
We also see tinnitus,
we can see imbalance.
00:49
Vertigo is actually very rare,
though that vestibular
cochlear nerve
does carry information
about balance.
00:57
Bilateral vestibular schwannomas are
pathognomonic for this condition,
and that's present in
about 90% of patients,
of NF2 patients
at the time of diagnosis
and should be present by age 30.
01:10
If a patient, an MRI,
or a clinical vignette
shows bilateral vestibular
schwannomas
that patient has NF2.
01:19
What do they look like?
Well, here we see
some of the brain findings
on this coronal postcontrast
imaging of the brain
as well as the
axial images on the top.
01:28
We also evaluate these patients
and evaluate these
vestibular schwannomas
with audiometry.
01:33
Audiometry
is a type of hearing test.
01:36
We look at how loud a tone
has to be to hear it,
and how many words
you can hear out of 100.
01:42
Normal is 100%.
01:43
When patients get to hearing
less than 70%
that causes a problem
with conversational speech.
01:49
It is an important indicator
of symptomatic dysfunction
from these tumors.
01:54
Here we see some of the tumors
on imaging.
01:57
We see a right vestibular schwannoma
and a left vestibular schwannoma.
02:01
Again, a right-sided
vestibular schwannoma
and a left-sided
vestibular schwannoma.
02:05
And actually that tumor is closely
approximated to a meningioma
that may result
in a collision tumor,
two tumors colliding together, which
can be particularly symptomatic.
02:15
Here we see an intracranial
or cranial vault meningioma
in this patient,
and two bilateral
vestibular schwannomas.
02:22
We see a lot of tumors
in these patients.
02:24
And so all patients must get
neuroimaging and audiometry
at the time of diagnosis,
and serially over time.
02:33
What about the
intracranial meningiomas?
What are those look like?
And how are they different
from sporadic meningiomas?
Well here we see a couple of
images, and a very important point.
02:43
Unlike classic sporadic
meningiomas,
which are the most common
primary brain tumor.
02:49
Meningiomas in NF2
are often
not discrete,
single nodular lesions,
but often diffusely involved
the entire dura.
02:57
On the left with the red arrow
we see a very small
nodular meningioma,
which is common
to see sporadically.
03:03
And on the right we see
Diffuse dural thickening.
03:07
Nodular lesions spread throughout
the entirety of the dura,
both in the frontal and occipital
sides of the brain.
03:13
And this raises suspicion
for a genetic and inherited
syndrome like NF2.
03:18
NF2 meningiomas are often present
with diffuse dural involvement.
03:22
And you can see that here
on this imaging video.
03:25
We see that the entire dura
is thickened and inflamed.
03:29
The white part of the brain
that is enhancing with contrast,
lighting up with gadolinium dye
is diffusely thickened and enlarged.
03:37
And you can see that here,
there's not just one meningioma
or one nodule,
the entire dura is involved
in this tumor.
03:43
This makes these tumors
very difficult to surgically remove
and requires both a neurologist
to evaluate
which tumor is the problem,
and which tumor should go after
or a medical intervention
to shrink them?
What about the spinal cord lesions?
In these patients
we don't just focus on the brain,
we have to look at the whole spine
with spinal imaging.
04:04
Here we're looking at
sagittal T2 or a stir image
as well as a T2 weighted image
to look at lesions
that could be present in the spine.
04:12
And we see a T2
bright to hyperintense lesion
behind the posterior aspect
of the second cervical vertebrae
or the C2 vertebrae.
04:21
This is a C2 lesion
in the spinal cord.
04:24
Intermedullary enhancing tumors
are common in patients with NF2.
04:29
And these are ependymomas,
tumors that arise from those
ependymal cells
that line the junction between
the brain and the ventricle.
04:36
When present, they're often multiple
in about 58% of patients.
04:40
And they're common in this region.
04:42
the cervicomedullary junction
or in the thoracic spinal cord.
04:47
They enhanced with contrast
and so here you can see
in this gadolinium enhanced MRI,
very subtle enhancement
or lighting up with
the gadolinium contrast
that's indicative of an
active tumor process.
04:58
But the natural history is different
from sporadic ependymomas,
which are often quite severe,
and it can be very aggressive.
05:05
In contrast,
patients with NF2
often have a very benign
natural history or clinical course,
the majority of patients
are asymptomatic up to 76%.
05:13
And symptomatic progression
is very rare.
05:16
These are tumors that are
monitored serially over time
and often do not require
intervention.
05:23
There are other manifestations
that we need to think about
in these patients
beside tumors in the brain,
and spinal cord
that should be
in the back of our mind
to evaluate in these patients, and
to consider in a clinical vignette.
05:33
In the eyes we see posterior
subcapsular cataracts,
often early in age.
05:39
Typical age onset
or adult onset cataracts
are in the anterior part
of the lens.
05:45
Whereas, these juvenile posterior
subcapsular cataracts
are in the posterior aspect
of the lens,
which is uncommon sporadically,
and suggests an inherited
condition like NF2.
05:58
Cranial neuropathy can be seen
and should be evaluated
in patients with NF2
and generalized neuropathy,
either a polyneuropathy or
other type of mononeuropathy
can be seen in these patients
as well.