Interactive Transcript
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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.
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