0:01

We have just reviewed a variety

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of cases of patients with the different manifestations

0:06

of neurofibromatosis type 1.

0:09

This is a good reminder that

0:10

neurofibromatosis type 1 is a single disease entity,

0:15

but every single patient is different.

0:17

Every single patient's clinical

0:19

course is different.

0:20

They get different manifestations of NF 1.

0:23

Hopefully, at some point,

0:24

we'll understand more about the genetics of it

0:27

to figure out what manifestations

0:29

different patients will get.

0:30

Some patients get optic pathway gliomas.

0:33

Some patients get intracranial neoplasms.

0:36

Some patients get moyamoya vasculopathy.

0:39

Some patients get plexiform neurofibromas,

0:41

and they get combinations therein.

0:44

These findings may not be present at first.

0:47

They may develop over time.

0:49

They may develop slowly,

0:50

incrementally over the course of multiple studies.

0:53

They may develop after just years and years

0:57

of quiescence and then growth.

0:59

We don't know.

1:00

We can't predict it yet.

1:02

It's important to do detailed follow

1:05

up examinations on these patients,

1:07

to look closely at the prior studies,

1:09

not just the most recent prior study,

1:10

but older prior studies.

1:12

And it's important to recognize that

1:15

the clinical pathway and decisions,

1:20

a lot of times will depend upon what we find.

1:22

So, be in communication with the referring doctors.

1:24

And also, in terms of the imaging surveillance,

1:28

sometimes it's performed every year,

1:30

sometimes every two years.

1:32

Sometimes it's just a brain.

1:33

Sometimes it's a brain in orbits.

1:35

It may involve a spine.

1:37

Reach out to your pediatrician,

1:39

your geneticists that are helping

1:40

manage these patients,

1:41

and figure out what is the most appropriate

1:43

for that given patient.

1:45

Some of these guidelines change over time,

1:47

and they're changing as we speak.

1:49

But

1:50

what we need to do is just be a part of the

1:53

team helping take care of these patients,

1:55

and hopefully,

1:56

we can be a valuable part of

1:58

helping management.