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This is a two-year-old child with a

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bump on the back of their head,

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and an MRI was performed after suspicions

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of it being of vascular in origin.

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So this here shows on T2-weighted

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imaging, there's a mass overlying the

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left aspect of the occipital bone.

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Within it are multiple fluid-filled cysts.

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There's an additional plaque-like

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lesion overlying the left parietal bone.

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Then, interestingly, we also notice a

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difference in the caliber of the supraclinoid

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internal carotid arteries, where the flow

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void of the left supraclinoid internal carotid

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artery is much smaller than on the right.

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How do we evaluate it?

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The primary lesion in the occipital

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region itself is multilobulated on T1

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weighted imaging, and the solid portions

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demonstrate post-contrast enhancement.

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Additionally, we're seeing some more post-

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contrast enhancement in the component

1:07

overlying the left parietal bone.

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But what else do we see?

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MR angiogram shows a normal caliber of the

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distal cervical segment of the right internal

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carotid artery, the petrous, pre-cavernous,

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cavernous, paraophthalmic, supraclinoid segments

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of the right internal carotid artery, and the

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right carotid terminus with the M1 segment of

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the right middle cerebral artery and the A1

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segment of the right anterior cerebral artery.

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Let's look at the other side.

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I am not seeing any flow-related

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signal in the distal cervical portion

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of the left internal carotid artery.

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Similarly, I'm not seeing any significant

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flow-related signal in the petrous portion,

1:49

and the petrous canal, the carotid canal

1:53

within the petrous portion of the temporal

1:54

bone looks smaller than on the right.

1:58

I'm not seeing any flow within the pre-

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cavernous, cavernous, or paraophthalmic

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segments of the left internal carotid artery.

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I am seeing a very diminutive caliber of the

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supraclinoid segment of the left internal

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carotid artery, which is more pronounced

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distally than proximally, suggesting to

2:17

me that there's probably retrograde flow

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in that supraclinoid segment of the left

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internal carotid artery, possibly to supply

2:26

the left ophthalmic artery in the setting

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of congenital hypoplasia of the cervical

2:31

segment of the left internal carotid artery.

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MR angiogram of the neck again shows

2:37

an asymmetrically decreased caliber of

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the left common carotid artery compared

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to the right common carotid artery.

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If we look superiorly, we see a

2:47

normal right carotid bifurcation.

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We're not seeing any true

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left carotid bifurcation.

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The main continuation of the left common

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carotid artery is just the left external

2:58

carotid artery and its branches without

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us identifying any appreciable caliber

3:04

of the left internal carotid artery.

3:08

This is a coronally acquired dynamic MR

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angiography showing absence of any appreciable

3:18

caliber of the distal cervical Petrus and

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proximal intracranial portions of the left

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internal carotid artery, a normal caliber

3:26

of the right internal carotid artery.

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Now we're also in the arterial phase,

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we're starting to see the occipital and

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the parietal extracranial scalp lesions.

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Already in the arterial phase,

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we're identifying these.

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Now if we go a little bit later to the

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venous phase, these fill in even further,

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but this already tells us that these

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are filling in in the arterial phase.

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So what is it?

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Well, these are infantile hemangiomas.

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They are highly vascular lesions.

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They can fill in the arterial phase.

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We see the flow voids within them.

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Now, these are actually not

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a vascular malformation.

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It is actually a vascular neoplasm.

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It's a benign vascular neoplasm.

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It's an infantile hemangioma.

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People often use the term hemangioma

4:27

for a variety of different things, and

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a large percentage of the time, the

4:32

term hemangioma is incorrectly used.

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So these are infantile hemangiomas,

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multiple infantile hemangiomas.

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in the setting of hypogenesis or agenesis

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of the left internal carotid artery.

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So this patient has a condition

4:54

called FACE syndrome, P H A C E.

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P stands for posterior fossa

5:00

malformations in the brain.

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They can often have cerebellar hypoplasia.

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This child does not have that.

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They have hemangiomas.

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This child has that.

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They have arterial abnormalities.

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This child has that in terms of hypoplasia

5:15

of the left internal carotid arteries.

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They can have cardiac abnormalities

5:19

and eye abnormalities.

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So, this constellation of findings, coupled with

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findings on echocardiography showing congenital

5:27

heart lesions, Confirms the diagnosis of face

5:30

syndrome face syndrome is a more recently

5:34

described and recognized neurocutaneous syndrome

5:38

with a variety of different abnormalities.

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I've seen patients where their posterior fossa

5:44

has a Dandy-Walker spectrum malformation.

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I've seen normal posterior fossas like in

5:48

this case, not every individual is the same 10

5:52

years from now, we may be able to know several

5:55

different genetic defects that cause difference.

5:59

In various phenotypes of face syndrome, but

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for now, being aware of the association of

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hemangiomas, posterior fossa abnormalities,

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arterial abnormalities, and potentially

6:11

cardiac and eye abnormalities is definitely

6:15

something to be aware of with the

6:16

more recently described face syndrome.