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NF1 with Buphthalmos and Orbital Plexiform Neurofibroma

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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

1:01

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,

3:20

enucleation of the right globe.

Report

Description

Faculty

Asim F Choudhri, MD

Chief, Pediatric Neuroradiology

Le Bonheur Children's Hospital

Tags

Syndromes

Pediatrics

Neuroradiology

Neuro

Neoplastic

MRI

Brain

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