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Tuberous Sclerosis Complex (TSC) Presentation in Neonates

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This is a CT scan on a one-month-old child

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that had a seizure that came in

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from an outside institution.

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Now, seizures in a newborn are highly concerning.

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It could be related to infections,

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it could be related to trauma,

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it could be related to congenital abnormalities,

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could be related to infantile spasms,

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which are a type of seizure that

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needs to be treated right away.

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So, it's obviously something we want

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to pay close attention to.

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And on this image,

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we're seeing this area of bright signal here in

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the left frontal lobe and in the

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left posterior frontal lobe.

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There's some abnormality in the ventricle.

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And at an outside institution that

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doesn't often deal with children,

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there was a concern for these representing

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parenchymal hemorrhages,

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and as well as intraventricular blood products and.

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And the concern was raised for child abuse.

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And that's not unreasonable because they often

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say child abuse is something you don't want to

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not think about it, you don't want to miss it.

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But let's look closer.

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We're not seeing any edema.

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This is superficial.

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So that is where you can sometimes get a

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traumatic injury. But these deeper findings,

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it's not where you normally would

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get a traumatic injury.

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So, what might this be? Well, we perform an MRI,

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and at first glance,

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the brain tranchema looks fairly normal,

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because in a newborn,

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this child being one month old,

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the white matter normally is bright

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on T2-weighted imaging.

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So there's a high water content because it's not

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myelinated. So now we look a little closer.

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This area here is.

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There's some dark signal and probably

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some cortical thickening that.

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Corresponds with this area of bright

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signal here on the CT scan.

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So, what else? Well, again,

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we may see something similar here in the

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posterior aspect of the left frontal lobe that

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corresponds with this area here on the CT scan.

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We see this finding here in the lateral

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ventricle that corresponds with this

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area here the CT scan.

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So now, none of these things in the MR.

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Are looking like hemorrhage or trauma,

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but we still need to figure out what's going

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on because we're still not seeing.

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We're seeing a couple of abnormalities.

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I don't think we have the full picture yet.

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I'm going to look at T1-weighted image,

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and you can see,

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actually multifocal areas of signal abnormality

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on T1-weighted imaging.

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So while we can barely see some of

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these abnormalities on T2,

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now that we look at them,

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we see these hypo intense areas,

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it becomes very obvious on T1.

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One weighted imaging.

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So in T1-weighted imaging, we're seeing,

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not only are we seeing multifocal

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areas of signal abnormality,

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if we look go from the periphery,

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where it's fanned out and it comes

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in tapers as it comes in,

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these look like the morphology of

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type two b cortical dysplasia,

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and that morphology comes from the migration

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along the pathway from the germinal

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matrix out to the periphery.

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And normally, in tuber sclerosis complex,

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we expect to see the areas of dysplasia or

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cortical tubers as hyperintense

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on T2 and FLAIR imaging.

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But here

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the hyperintense signal is not able to be

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clearly identified in a background

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of unmyelinated brain. Similarly,

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in older individuals,

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where there's a myelinated brain that's

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hyperintense on T1-weighted imaging.

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signal of the areas of dysplasia,

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but in this patient who has an unmyelinated

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brain, we can see.

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Neonatal tuberous sclerosis complex

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can look very different.

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There's different imaging sequences

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you look for in this patient.

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This highlights that you see dysplasia

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very well on T1-weighted imaging,

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and it's much more subtle on T2-weighted

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imaging. Similarly, these subependymal nodules,

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if we look closely,

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we can see them on T1 and T2-weighted

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imaging. And we look here,

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we can see at least three separate

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nodules adjacent to one another.

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So this patient has tuberous sclerosis complex and

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no signs of trauma, no signs of hemorrhage.

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Now,

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what does it look like when they grow older?

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So this is the patient several years later.

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These areas that we saw of hyperintense signal.

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We can barely see an abnormality on T2

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to begin with. As they get older,

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the hyperintense signal is able to be identified

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in the background of the.

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Rest of the brain as it myelinates.

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This area here,

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this area of dysplasia is very obvious

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in the myelinated background. 93 00:03:51,626 --> 00:03:53,298 We don't really see the hyperintense

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signal of the areas of dysplasia,

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but in this patient who has an unmyelinated

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brain, we can see.

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Neonatal tuberous sclerosis complex

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can look very different.

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There's different imaging sequences

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you look for in this patient.

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This highlights that you see dysplasia

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very well on T1-weighted imaging,

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and it's much more subtle on T2-weighted

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imaging. Similarly, these subependymal nodules,

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if we look closely,

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we can see them on T1 and T2-weighted

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imaging. And we look here,

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we can see at least three separate

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nodules adjacent to one another.

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So this patient has tuberous sclerosis complex and

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no signs of trauma, no signs of hemorrhage.

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Now,

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what does it look like when they grow older?

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So this is the patient several years later.

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These areas that we saw of hyperintense signal.

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We can barely see an abnormality on T2

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to begin with. As they get older,

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the hyperintense signal is able to be identified

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in the background of the.

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Rest of the brain as it myelinates.

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This area here,

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this area of dysplasia is very obvious

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in the myelinated background.

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It's very subtle on the earlier image,

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and we can see these subependymal nodules.

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So this just goes to show that these areas of

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dysplasia not only do they change in their

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imaging appearance on a given sequence,

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they change in which sequence you can actually

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see them on. As the child grew older,

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we can't see the areas of dysplasia stand

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out on T1-weighted imaging,

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except for maybe right here,

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all the rest of the areas, you see it at most,

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because the higher water content

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is being hypo intense,

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whereas earlier they were hyperintense.

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They didn't necessarily change

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significant intrinsically,

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but it's the relative appearance

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compared to the background.

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All of these little areas here that

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we see in the right hemisphere.

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Frontal lobe is hyperintense.

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We're not seeing them on the current study

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because the white matter surrounding

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it has myelinated,

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and myelinated white matter is hyperintense on T1

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weighted imaging due to the

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proteolipids of myelin.

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So this just goes to show

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that both in a newborn,

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you need to be very cautious in interpreting

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findings of suspected intracranial hemorrhage.

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We need to be aware of the imaging findings

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of neonatal tuberous sclerosis complex,

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and in this case,

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it shows that T1-weighted imaging

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is the most effective.

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And we can see the evolution as the brain myelinates.

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T2-weighted and FLAIR imaging become

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more relevant than T1.

Report

Description

Faculty

Asim F Choudhri, MD

Chief, Pediatric Neuroradiology

Le Bonheur Children's Hospital

Tags

Syndromes

Pediatrics

Neuroradiology

Neuro

MRI

CT

Brain

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