Cerebral Arteriovenous Malformation in Wyburn-Mason Syndrome

Introduction

Wyburn-Mason syndrome is a rare congenital disease that can affect the brain, retina, optic pathway, and skin. Among these, cerebral arteriovenous malformation is common but mostly shows no symptoms; hence, it may kill the patient at any time. Ophthalmologists may be the first to diagnose the disease when racemose hemangioma is detected in the ocular fundus examination. Once the patient is diagnosed as having Wyburn-Mason syndrome, the brain should be monitored. In our report, we provide images of cerebral arteriovenous malformation, fundus fluorescein angiography, and enhanced depth imaging optical coherence tomography.

Case Report

A 9-year-old girl came to our clinic because she had been seeing a black shadow in front of her left eye for 1 month. We asked her parents about her history of current illness and medical history and performed a physical examination. The patient's parents told us she had a low visual acuity in her left eye but they could not identify how long it had been that way. The patient had no history of drug use or trauma. There was no redness, swelling, hot pain, abnormal discharge, metamorphopsia, or color metamorphopsia. She had a history of cerebral arteriovenous malformation (Figure 1) and underwent a neurosurgical procedure in 2012.

Figure 1. Arteriovenous malformation in the basal ganglia of the left cerebra on magnetic resonance imaging.

Her best corrected visual acuity was 20/200 (−2.00 sphere 20/20) in the right eye and 20/150 (no improvement) in the left eye. The anterior segment examination was within normal limits in both the right and left eyes. We also performed an ocular fundus examination. No abnormalities were found in the patient's right eye, but racemose hemangioma and a macular abnormality were noted in the left eye (Figure 2). Fundus fluorescein angiography and optical coherence tomography revealed that almost all of the retinal vessels were abnormally dilated, including arteries and veins, but there was no leakage, hemorrhage, or neovascularization. Optical coherence tomography examination detected that dilated vessels affected the full-thickness retina and part of the choroid. Dilated vessels were also found in the postocular tissue by color Doppler ultrasound examination. Combined with all of the evidence, we diagnosed the patient as having Wyburn-Mason syndrome.

Figure 2. Racemose hemangioma and macular abnormality on ocular fundus photography. Almost all of the retinal vessels are abnormally dilated, including arteries and veins, but there is no leakage, hemorrhage, or neovascularization on fundus fluorescein angiography. Dilated vessels affected the full-thickness retina and part of the choroid in the optical coherence tomography examination.

Discussion

Wyburn-Mason syndrome is a rare congenital vascular metrocyte lesion characterized by unilateral arteriovenous malformations involving the brain, retina, optic pathway, and (rarely) skin.¹ It may develop serous retinal detachment, cystoid macular edema,² peripheral retinal ischemia, neovascularization, and choroidal infarction³; however, it may also remain unchanged.⁴ Ophthalmologists can treat the secondary lesion to cure or slow down visual loss and protect monocular visual acuity, but the most important response is to monitor the brain because cerebral arteriovenous malformation can kill the patient at any moment. The first sign of Wyburn-Mason syndrome typically appears in the ocular pathway, so ophthalmologists should perform neuroradiological examinations such as computed tomography or magnetic resonance imaging on the patient once retinal arteriovenous malformations have been detected. Our report presents a typical case of Wyburn-Mason syndrome involving the brain, retina, and optic pathway. Fortunately, the patient's main complaint before a neurosurgical procedure in 2012 was headache, so her parents took her to the department of neurology and the physicians were able to cure her.