Upcoming Events
Log In
Pricing
Free Trial

NF1 with Bilateral Thalamic Lesions and Differential Diagnosis

HIDE
PrevNext

0:00

This is an MRI of the brain,

0:02

an eleven-year-old child with headache.

0:05

At first glance,

0:07

we're not seeing any big mass,

0:08

we're not seeing any mass effect.

0:10

We're not seeing any midline shift.

0:11

We're not seeing any signs of hydrocephalus.

0:14

So at first approximation,

0:16

we're not seeing anything majorly abnormal.

0:19

If we look closely at the thalamus,

0:23

we're seeing some subtle hyperintense signal

0:25

in the thalami, bilaterally patchy.

0:30

Now, the thalamus is gray matter,

0:34

but it actually is so heavily myelinated,

0:37

because there are so many connections coming to

0:40

and from the thalamus that it actually,

0:43

typically, in a myelinated individual,

0:46

has signal that looks very

0:48

similar to white matter.

0:49

See this white matter here

0:50

of the optic radiations,

0:51

this dark signal on T2-weighted imaging,

0:54

that's typically what the thalamus looks like.

0:56

Here we're seeing these heterogeneous

0:57

bright areas.

0:59

That brings about a classic differential of

1:03

things with bilateral thalamic abnormalities.

1:06

Now,

1:07

there's acute disseminated encephalomyelitis,

1:09

for instance,

1:10

and other acute demyelinating disorders,

1:13

such as anti-MOG antibodies.

1:15

Those won't usually present with

1:16

headaches as an outpatient.

1:18

Those are going to be more acute presentations

1:21

with neurologic deficits.

1:23

There is bithalamic gliomas.

1:26

Now, a bilateral thalamic glioma is usually not

1:30

going to be this patchy area of infiltration.

1:33

It will typically be expansile,

1:35

and when it goes across,

1:36

it will be crossed through the mass intermedia

1:38

or the interthalamic adhesion.

1:40

So, I don't think that this

1:41

is a bithalamic glioma.

1:44

There's something called an artery

1:45

of percheron infarction,

1:46

which is related to a stroke from basilar perforators.

1:50

And in some individuals,

1:53

a single trunk of the basilar perforator

1:56

supplies the medial aspect of both thalami.

1:59

Well,

1:59

an artery percheron infarction will first of all

2:02

be the medial aspect of both thalami,

2:04

not this patchy involvement of the

2:06

whole thalamus bilaterally.

2:07

And it will also show diffusion restriction.

2:10

So that's not what this is.

2:11

Now, you can also get a venous infarction

2:14

and venous congestion from thrombosis

2:16

of the vein of Galen and internal cerebral veins.

2:19

Well, on this T2-weighted image,

2:21

we're seeing normal T2 flow voids in the

2:23

posterior aspect of the internal cerebral veins

2:25

in the vein of Galen.

2:27

We're also not seeing any signal abnormality

2:30

on diffusion-weighted imaging.

2:32

And additionally,

2:34

that's also an abnormality that would

2:36

typically be the medial thalamus,

2:38

and it would also be an abnormality that would

2:40

occur as more of an acute presentation,

2:42

not an outpatient for headaches.

2:44

Now, there's also Wernicke's encephalopathy.

2:48

Wernicke's encephalopathy is a bilateral

2:50

thalamic abnormality,

2:51

medial thalami that you don't want to miss.

2:54

You want to be aware it,

2:54

you want it to come to your mind.

2:56

Well, that also is going to present more in the

2:59

acute setting. Now, in an acute setting,

3:01

if you see bilateral thalamic abnormalities,

3:03

even if you may think it's ADEM,

3:05

there's very few entities where

3:07

giving Thiamine replacement,

3:10

which is the treatment for Wernicke's encephalopathy,

3:12

there's very few entities

3:13

where that would hurt.

3:14

So, if I see a patient with an acute abnormality,

3:18

where there's bilateral thalamic abnormalities,

3:21

I'll often sort of suggest,

3:22

is there a contraindication to Thiamine?

3:24

That's my way of saying, well,

3:26

it may not be Wernicke's,

3:28

but in the off chance that it is,

3:30

it wouldn't hurt.

3:31

There's another bilateral thalamic abnormality

3:33

that comes up in differentials,

3:35

that's often discussed on board exams.

3:38

That's Creutzfeldt-Jakob disease.

3:41

Now, that's very rare

3:44

and that's even more rare in children.

3:47

So, that's not something I'm worried

3:49

about in an adolescent,

3:50

but that is at least something to be aware of

3:53

or thinking about with bilateral

3:55

thalamic abnormalities.

3:56

The other entity with bilateral thalamic

3:58

abnormalities is neurofibromatosis type 1.

4:02

Now, we're not seeing a lot of other abnormalities

4:04

of NF 1 here, except if we look closely,

4:07

we see signal abnormality in

4:10

the right globus pallidus.

4:12

So, we're not seeing other definite abnormalities.

4:18

But it turns out that this child with

4:21

headaches actually had neurofibromatosis type 1.

4:24

Just a very subtle clinical case of it.

4:27

So, in general,

4:29

most of the patients with neurofibromatosis type 1

4:32

that get MRI,

4:33

we know in the beginning that that's

4:36

what their diagnosis is.

4:37

But every now and then, there's going to be

4:39

a patient where they get an MRI,

4:41

and we don't know that that's

4:42

what the diagnosis is.

4:43

And this is one of those examples.

Report

Description

Faculty

Asim F Choudhri, MD

Chief, Pediatric Neuroradiology

Le Bonheur Children's Hospital

Tags

Syndromes

Pediatrics

Neuroradiology

Neuro

MRI

Brain

© 2024 Medality. All Rights Reserved.

Contact UsTerms of UsePrivacy Policy