Interactive Transcript
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This is an MRI of the brain.
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In a three-year-old child.
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With neurofibromatosis type 1.
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Can see classic areas of myelin vacuolization
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in the globus pallidus.
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And we can start to see this asymmetric soft
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tissue in the right superorbital soft tissues.
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We see this asymmetric enlargement
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of the right orbit.
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And we see a massively enlarged right globe.
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Compared to the other side,
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the axial length of the left globe is approximately 21 mm.
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Axial length of the right globe is at least 29 mm.
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Macrophthalmos, like this,
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is sometimes called buphthalmos.
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Buphthalmos is a word that has
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an origin meaning like an ox eye.
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So, this globe is massively enlarged.
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We're actually seeing some cupping at the
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level of the optic nerve insertion.
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That can be a sign of optic nerve injury
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in the setting of glaucoma.
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Again,
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we can't make that diagnosis definitively.
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But that may correspond with what we're seeing.
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And glaucoma is known to result in large eyes.
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Now, on this coronal image,
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we can see, here is the optic nerve.
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The right optic nerve.
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It's pushed inferiorly compared to the left.
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But what are all these?
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All this,
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these are plexiform neurofibromas in the right orbit
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that's pushing the globe anteriorly,
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which is proptosis.
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It's pushing it inferiorly.
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It's pushing the optic nerve inferiorly.
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So this patient has buphthalmos,
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orbital plexiform neurofibromata,
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proptosis,
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and inferior displacement of the globe.
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There's additionally mass effect upon
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all the extraocular muscles,
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but that's difficult to fully characterize
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because of everything that is in the globe.
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This right here is actually a device
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used to regulate glaucoma,
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but unfortunately, in this patient,
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that alone was not sufficient to be able to
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manage the glaucoma and also the progressive
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growth of the plexiform neurofibromata.
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So, the patient eventually underwent
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enucleation of the right globe.
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You see a prosthesis here,
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but there's still innumerable
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plexiform neurofibromata.
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You can see these plexiform neurofibromata
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have a hyperintense rim and a hypointense center,
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sometimes referred to as a target sign.
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And each one of these is a different lesion.
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There's just innumerable lesions,
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and this patient had undergone several
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different debulking of these lesions,
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and they kept growing.
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So, this is a patient with neurofibromatosis type 1,
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glaucoma, leading to buphthalmos,
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as well as orbital plexiform neurofibromata
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that resulted in proptosis, and eventually,
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the combination of the plexiform neurofibromata
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and the glaucoma resulted in, unfortunately,
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enucleation of the right globe.
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