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Mosaic Tuberous Sclerosis Complex (TSC)

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This is an MR of the brain

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in an eight-year-old child with seizures.

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And we can see on this T2-weighted image,

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there's a T2 hyperintense area here involving

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the juxtacortical white matter and deep white

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matter of the left cerebral hemisphere.

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If we evaluate this further on FLAIR imaging,

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in addition to this area of juxtacortical

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signal hyperintensity that tapers as it

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extends inwards towards the superlateral

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margin of the lateral ventricle.

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We can see another area in the left occipital lobe

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with some probable cortical

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thickening overlying it.

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We see another area here of subtle

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hyperintense signal in the white matter

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just subjacent to the left middle frontal gyrus here.

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On this sagittal high-resolution image,

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we see this left occipital area of signal abnormality,

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left middle frontal gyrus

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and an area in the inferior aspect

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of the left postcentral gyrus.

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So, there's another lesion here.

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Signal abnormality with hyperintense signal

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on FLAIR imaging, involving the junction

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of the posterior aspect of the left inferior temporal

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gyrus with the left occipital lobe.

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All of these have a similar morphology.

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If we look closely,

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all of them have signal that tapers as it

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extends towards the margins of the lateral ventricle.

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These are, each individually, can be described as areas

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of focal cortical dysplasia, Type 2B.

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Collectively,

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this constellation of findings is suggestive

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of tuberous sclerosis complex.

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Now, if we look on the right cerebral hemisphere,

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we're not seeing any clear areas of dysplasia.

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If we look at the margins of

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the lateral ventricles,

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we're not seeing any clear evidence

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of subependymal nodules.

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And if we look on susceptibility-weighted imaging,

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and if we look on susceptibility weighted imaging,

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we're not seeing any signs of

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dystrophic mineralization,

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not within the areas of dysplasia and not

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along the margins of the lateral ventricles.

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So, the multifocal areas of Type 2B

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cortical dysplasia are suggestive

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of tuberous sclerosis complex.

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We're seeing this only in the left cerebral

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hemisphere and we're not seeing

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other manifestations of it.

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This patient did eventually meet the criteria

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for tuberous sclerosis complex,

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the formal diagnosis.

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However, given the absence of some of the other

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findings and the relatively milder phenotype

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all isolated to the left cerebral hemisphere,

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it's very possible that this patient

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has a mosaic representation.

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So, there's no way to clinically

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find that out right now,

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but this is a very possible, a mild,

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potentially mosaic manifestation

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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

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