00:01
Let's switch to now to Neurofibromatosis.
00:05
Specifically neurofibromatosis comes
in two types. Type I and Type II.
00:11
Type I is more common.
00:13
For type I neurofibromatosis,
a patient has to have several findings
to make the diagnosis.
00:20
First off, they only need two or more
of the following major criteria
This will be
six cafe-au-lait spots
larger than 5mm if prepubertal
or larger than 15mm if
post pubertal.
00:38
Keep in mind
that these lesions
are sort of like the opposite of
an Ash leaf spot.
00:45
These are flat, macular but this time
hyperpigmented lesions.
00:50
They look a bit like birthmarks,
which sometimes people have.
00:55
So, this can be confusing.
00:57
Another criteria for which they need for
two or more for the diagnosis
is having two or more neurofibromas.
01:05
Neurofibromas are fleshy, rubbery, firm
and non tender lesions
that show up on the skin.
01:10
It's hard to miss them and
you can see some here.
01:13
They may also have one plexiform neurofibroma
and that will satifsy that
criteria.
01:19
Another criteria we see commonly on
children before
neurofibromas show up is
axillary freckling.
01:26
And you should keep an eye out for
that for patients with cafe-au-lait spots.
01:30
Axillary freckling looks like little
freckles in the armpits.
01:34
They may also show up
in the inguinal area.
01:38
Another lesion that these patients
may develop is the Optic glioma.
01:42
This is a lesion that is behind the eye
that can cause a unilateral
proptosis
as you can see in this picture here.
01:50
One interesting finding, which is very
very rare but is pointed out a lot
sometimes on test questions
is that these patients may have a
pulsaltile exopthalmus
because the retinal artery
is pulsing with blood and the eye
can actually be seen to bounce up and down
or in and out as a result of that pulse.
02:13
Another finding which is
consistent with the
neurofibromatosis is having two or more
Lisch nodules.
02:21
Lisch nodules are seen here in this
patient.
02:24
These are little brown lesions that are found
in the iris. They are a little bit easier
to see in blue-eyed individuals
for obvious reasons.
02:36
Another typical finding in neurofibromatosis
is a distinctive bony lesion.
02:41
This usually happens on long bones
or flat bones and they can show up on both
xray or in this case
on a bone scan.
02:50
Another criteria, which is actually
one of the more common criteria
to be satisfied is having a first degree
relative with neurofibromatosis.
02:59
Remember, patients with neurofibromatosis
can live long and fruitful lives and
may have children themselves.
03:04
And their children are at
an increased risk because it is inherited.
03:10
So, there are many other lesions that you
can see
in neurofibromatosis.
03:16
And you should probably read through them
as a way of remembering
and familiarizing yourself of the disease.
03:22
Some findings that one might see
in this disease include
sphenoid bone dysplasia.
03:29
Congenital hydrocephalus can
be seen.
03:32
Patients may develop pseudoarthrosis.
03:36
Patients can develop Dermal
neurofibromas
as we've seen in this lecture.
03:43
Attention Deficit Hyperactivity Disorder
is associated with neurofibromatosis.
03:49
As is speech and language delay
and even Asperger's syndrome.
03:55
All of these are potential complications of
neurofibromatosis type I.
04:01
Remember, neurofibromatosis comes
in two types. Type I and Type II.
04:06
This two can be distinguished in many
ways
but a good way to remember it as a student
when you are just getting started
is Type I will frequently affect the eyes
and type two frequently affects the ears.
04:17
The eye finding on type I is the optic glioma
which we discussed earlier.
04:22
And in Type II they can have acoustic
neuromas.
04:26
The criteria for type II are different
from the criteria for type I
and they bare looking at.
04:33
Let's switch gears now to Sturge Weber
Syndrome.
04:37
Sturge Weber Syndrome
is another neurocutaneous syndrome
where patients will get
classicaly a port-wine stain
as it's pictured here on this patient
usually in a trigeminal distribution
over their face.
04:51
Sturge-Weber
is usually present at birth as an
agioma.
04:58
about 70% of patients will have an associated
glaucoma at birth or soon after birth
in the affected area around the eye.
05:08
So, these patients need to be seen
by an opthalmologist.
05:12
Patients can have neurologic
manifestations
from inter cranial vascular anomalies
associated with a skin lesion.
05:20
So, for example classically,
they may have a seizure disorder,
because of neurologic involvement,
deep to that red lesion.
05:29
In Sturge Weber, management is largely
supportive including anti-seizure medication
And
aspirin prophylaxis if that
complex vascular area is prone to
clot and eventually stroke.
05:44
For Cosmesis purposes, we can also provide
laser therapy to these patients
to allow them to look better
as they function throughout their lives.
05:54
That is my summary briefly of the
neurocutaneous syndromes.
05:58
Thanks for your attention.