Interactive Transcript
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This 64-year-old woman presents with
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cognitive dysfunction ataxia.
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There is cerebellar hemispheric atrophy and dystonia.
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She's got bilateral caudoputaminal hyperintensity
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with loss of putaminal volume,
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but preservation of caudate volume seen on FLAIR
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seen on T2,
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and preservation of the caudate,
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especially well seen on T1 axial imaging.
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There is subtle bithalamic involvement.
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The key to the diagnosis is the symmetry of the
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process and the fact that the cortex
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is symmetrically atrophic.
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There really aren't any areas of abnormal
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iron in the basal ganglia.
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There might be a little increased conspicuity in
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the back of the putamen where this
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process has not affected it yet.
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Let's go down to the brain stem where
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we see preservation.
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In fact, pronounced preservation of the
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zona compacta stripe,
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which you typically don't see in moderate to
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advanced cases of Alzheimer's disease.
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So in this patient with Dystonia,
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what type of Dystonia do they have?
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They had focal dystonia of one area of the body.
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Two areas that's segmental.
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Generalized everywhere,
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three or more that can be identified,
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specifically multifocal,
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and one side of the body,
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hemidystonia.
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When I have a history of Dystonia,
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I like to break it down into
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primary versus secondary,
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exogenous versus endogenous.
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So, what types of exogenous Dystonia can you get?
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Well, people that inject themselves with cut heroin
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can develop a Dystonic syndrome.
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There's usually some degree of necrosis,
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and it's almost always bilateral,
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but more severe on one side.
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This is spot-on,
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totally symmetrically bilateral,
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which should lead you to metabolic
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causes of Dystonia.
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What's another toxic cause
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of Dystonia that is endogenous?
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Lactate production.
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Where do you get lactate production?
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In disorders that affect the oxidative pathway?
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One example, Leigh's disease.
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But Leigh's disease doesn't occur
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in 50, 60, 70-year-old people.
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It occurs earlier.
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But it absolutely does involve the caudate,
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the putamen and thalamus.
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But there's a theme here,
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we're staying with ATP production,
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an oxidative capacity of the brain,
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another disorder that you're all familiar with
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that can do this, that likes the thalamus,
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but also affects the mammillary body,
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producing hemorrhage and atrophy of the
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mammillary body, not present here.
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The mammillary body is juicy,
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is Wernicke's encephalopathy,
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an acute deficiency C of vitamin B1.
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And what do you need vitamin B1 for?
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You need it to produce oxygen and ATP
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to supply the metabolism of the brain.
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So that would be another consideration.
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Another endogenous toxicity is copper,
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and that is Wilson's disease.
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And that's what this patient has,
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Wilson's disease.
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So what are some of the other manifestations
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of Wilson's disease?
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You can see signal intensity in the thalami and
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the thalami can get kind of swollen.
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Sometimes you'll see something called the big panda sign,
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which we're going to show you in another case.
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But here we have caudate involvement,
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putaminal involvement,
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some subtle thalamic involvement.
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Sometimes in Wilson's disease,
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you'll see accumulation of copper that leads
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to more focal areas of hyperintense
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signal in the basal ganglia,
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almost like basal ganglia necrosis.
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You will see accumulation of manganese
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and magnesium and iron.
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So you may see some very bizarre
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distribution in iron stores.
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So, the signal in Wilson's disease may be high or
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the signal in Wilson's disease may be low.
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This patient has proven Wilson's disease
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and we'll talk about the disorder in the next vignette.
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