AJDRAJNR - American Journal of Neuroradiology

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Case Report
HEAD & NECK

Wyburn-Mason Syndrome Associated with Thyroid Arteriovenous Malformation: A First Case Report

A.W. Leea, C.S. Chenb, P. Gailloudc and P. Nyquista

a Departments of Cerebrovascular Neurology, Department of Radiology, Johns Hopkins Medical Institutes, Baltimore, Md
b Neuro-Ophthalmology, Department of Radiology, Johns Hopkins Medical Institutes, Baltimore, Md
c Division of Neuroradiology, Department of Radiology, Johns Hopkins Medical Institutes, Baltimore, Md

Address correspondence to Andrew W. Lee, Department of Cerebrovascular Neurology, Johns Hopkins University School of Medicine, 600 N Wolfe St, Phipps 126, Baltimore, MD 21287; e-mail: alee74{at}jhmi.edu

SUMMARY: A 31-year-old woman with a prior history of Wyburn-Mason syndrome, complicated previously by a left thalamic intracerebral hemorrhage at age 21, complained of sudden left vision loss due to a central retinal vein occlusion. Angiography revealed a left thyroid arterio-venous malformation (AVM) in addition to ones found intracerebrally. The pathogenesis and embryogenesis of this finding including the management of AVMs in Wyburn-Mason syndrome are discussed.