J Korean Ophthalmol Soc.  2010 Jan;51(1):145-149.

Wyburn-Mason Syndrome: A Case Report

• Shin CH
• Lee SN

Abstract

PURPOSE
To describe a case of Wyburn-Mason Syndrome, which is characterized by arteriovenous malformations in the central nervous system and the retina.
CASE SUMMARY
A 13-year-old girl who underwent neurosurgical intervention for intraventricular hemorrhage was referred to our ophthalmic clinic because brain angiogram and MRI finding revealed arteriovenous malformations (AVMs) that extended from the orbit and optic chiasm along the optic pathway. Fundus and fluorescein angiography of the left eye showed marked dilation and tortuosity of the retinal vessels. Fluorescein angiographic findings showed rapid filling of all vessels and no dye leakage.
CONCLUSIONS
Retinal racemose hemangioma should be considered for Wyburn-Mason syndrome, and the finding of retinal AVMs should warrant cerebral imaging studies including MRI and angiography.

Keyword

Wyburn Mason syndrome; Arteriovenous malformation; Retinal racemose hemangioma

MeSH Terms

Adolescent
Angiography
Arteriovenous Fistula
Arteriovenous Malformations
Brain
Central Nervous System
Eye
Fluorescein
Fluorescein Angiography
Hemangioma
Hemorrhage
Humans
Neurocutaneous Syndromes
Optic Chiasm
Orbit
Retinal Vessels
Retinaldehyde
Arteriovenous Fistula
Fluorescein
Neurocutaneous Syndromes
Retinaldehyde

Figure

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  Figure 1. Angiograms of the left internal carotid artery (A: Anteroposterior view, B: Right antero-oblique view, C & D: Lateral view). There are AVMs that extends from the orbit and optic chiasm along the optic pathway to the midbrain (o: Ophthalmic artery, i: Internal carotid artery, AVM: AV malformations)

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  Figure 2. Magnetic resonance imaging shows aggregated enhancing structures (yellow arrow) in the left central orbital space and suprasellar cistern, and around the supraclinoid internal carotid artery.

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  Figure 3. Color fundus photograph of the left eye shows marked dilation and tortuosity of the retinal vessels, “Bag of Worms”

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  Figure 4. Fluorescein angiograms of the left eye. In the arterial phase, Rapid arterial filling and immediately emptying of fluorescein dye into the vein through the various A-V communications are seen. In the late phase, No leakage is evident.

Reference

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