J Korean Ophthalmol Soc.  2016 Aug;57(8):1333-1338. 10.3341/jkos.2016.57.8.1333.

A Case of Wyburn-Mason Syndrome with Facial Nevus Flammeus and the Associated Optical Coherence Tomography Findings

• Song M
• Kim DH
• Ahn H

• KMID: 2349086
• DOI: http://doi.org/10.3341/jkos.2016.57.8.1333

Abstract

PURPOSE
To describe a case of Wyburn-Mason Syndrome, which is a rare phakomatosis, and its associated optical coherence tomography findings.
CASE SUMMARY
A 5-year-old boy was referred to our clinic for decreased vision in his right eye. He had nevus flammeus on his right forehead, upper eyelid, and cheek. His best corrected visual acuity was hand motion in the right eye, in which a relative afferent pupillary defect was noted. Fundus examination of the right eye showed marked dilation and tortuosity of retinal vessels, which could not be discriminated between arteries and veins on the posterior pole. Optical coherence tomography showed multiple large intraretinal vessels without involvement of the internal limiting membrane. Cerebral angiography revealed arteriovenous malformations (AVMs) and feeder vessels from the internal carotid artery to the ophthalmic artery, extending to the ethmoidal artery in the nasal cavity.
CONCLUSIONS
Wyburn-Mason syndrome is a rare phakomatoses and shows unique retinal AVM. Misdiagnosis or undertreatment of Wyburn-Mason syndrome can lead to serious complications. Patients with facial nevus flammeus should undergo thorough ocular examinations to rule out this disorder. Optical coherence tomography is a useful method for understanding structural features of retinal vascular malformations in Wyburn-Mason syndrome.

Keyword

Arteriovenous malformation; Nevus flammeus; Optical coherence tomography; Racemose hemangioma; Wyburn-Mason syndrome

MeSH Terms

Arteries
Arteriovenous Malformations
Carotid Artery, Internal
Cerebral Angiography
Cheek
Child, Preschool
Diagnostic Errors
Eyelids
Forehead
Hand
Humans
Male
Membranes
Methods
Nasal Cavity
Neurocutaneous Syndromes
Nevus*
Ophthalmic Artery
Port-Wine Stain*
Pupil Disorders
Retinal Vessels
Retinaldehyde
Tomography, Optical Coherence*
Vascular Malformations
Veins
Visual Acuity
Retinaldehyde

Figure

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  Figure 1. Facial photo of the patient. Nevus flammeus was seen on the right forehead, nose, upper lid and cheek.

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  Figure 2. Fundus findings of the patient. (A) The fundus photograph of the affected eye showed characteristic retinal vascular features of enlarged and tortuous vessels with “Bag of Worms” appearance. (B) The wide field fundus photograph of the affected eye showed vascular abnormality mostly confined to the posterior pole. (C) Fluorescein angiography of the affected eye. Very rapid arterial and venous filling was noted only at 4 seconds after injection. (D) No fluorescein leakage was noted even in the late phase.

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  Figure 3. Spectral domain optical coherence tomography of the affected eye. Multiple vascular enlargements within the retina caused prominent shadowing artifacts. Abnormal vascular structures were confined to the intraretinal structure without involvement of the highly reflective membrane structure regarded as the internal limiting membrane.

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  Figure 4. Cerebral angiography of the right internal carotid artery (ICA) and three dimensional reconstruction of vascular structure. Direct communication from ICA to ophthalmic artery was noted. Arteriovenous malformations involved the right orbit, optic chiasm, hypothalamus and midbrain.

Reference

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