Get a Group Membership for your Organization. Free Trial
Pricing
Free TrialLogin

Mosaic Tuberous Sclerosis Complex (TSC)

HIDE
PrevNext

0:01

This is an MR of the brain

0:02

in an eight-year-old child with seizures.

0:06

And we can see on this T2-weighted image,

0:08

there's a T2 hyperintense area here involving

0:11

the juxtacortical white matter and deep white

0:15

matter of the left cerebral hemisphere.

0:18

If we evaluate this further on FLAIR imaging,

0:22

in addition to this area of juxtacortical

0:25

signal hyperintensity that tapers as it

0:29

extends inwards towards the superlateral

0:31

margin of the lateral ventricle.

0:32

We can see another area in the left occipital lobe

0:38

with some probable cortical

0:40

thickening overlying it.

0:44

We see another area here of subtle

0:47

hyperintense signal in the white matter

0:51

just subjacent to the left middle frontal gyrus here.

0:55

On this sagittal high-resolution image,

0:57

we see this left occipital area of signal abnormality,

1:01

left middle frontal gyrus

1:05

and an area in the inferior aspect

1:07

of the left postcentral gyrus.

1:10

So, there's another lesion here.

1:14

Signal abnormality with hyperintense signal

1:18

on FLAIR imaging, involving the junction

1:21

of the posterior aspect of the left inferior temporal

1:25

gyrus with the left occipital lobe.

1:27

All of these have a similar morphology.

1:30

If we look closely,

1:32

all of them have signal that tapers as it

1:35

extends towards the margins of the lateral ventricle.

1:38

These are, each individually, can be described as areas

1:43

of focal cortical dysplasia, Type 2B.

1:46

Collectively,

1:48

this constellation of findings is suggestive

1:50

of tuberous sclerosis complex.

1:52

Now, if we look on the right cerebral hemisphere,

1:56

we're not seeing any clear areas of dysplasia.

2:01

If we look at the margins of

2:03

the lateral ventricles,

2:04

we're not seeing any clear evidence

2:06

of subependymal nodules.

2:08

And if we look on susceptibility-weighted imaging,

2:12

and if we look on susceptibility weighted imaging,

2:15

we're not seeing any signs of

2:17

dystrophic mineralization,

2:18

not within the areas of dysplasia and not

2:21

along the margins of the lateral ventricles.

2:23

So, the multifocal areas of Type 2B

2:27

cortical dysplasia are suggestive

2:30

of tuberous sclerosis complex.

2:32

We're seeing this only in the left cerebral

2:34

hemisphere and we're not seeing

2:36

other manifestations of it.

2:38

This patient did eventually meet the criteria

2:40

for tuberous sclerosis complex,

2:43

the formal diagnosis.

2:45

However, given the absence of some of the other

2:47

findings and the relatively milder phenotype

2:51

all isolated to the left cerebral hemisphere,

2:54

it's very possible that this patient

2:55

has a mosaic representation.

2:58

So, there's no way to clinically

2:59

find that out right now,

3:01

but this is a very possible, a mild,

3:05

potentially mosaic manifestation

3:07

of tuberous sclerosis complex.

Report

Description

Faculty

Asim F Choudhri, MD

Chief, Pediatric Neuroradiology

Le Bonheur Children's Hospital

Tags

Syndromes

Pediatrics

Neuroradiology

Neuro

MRI

Brain

© 2024 MRI Online. All Rights Reserved.

Contact UsTerms of UsePrivacy Policy