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Show PHOTO ESSAY Retinal and Intracranial Arteriovenous Malformations: Wyburn- Mason Syndrome Stephen D. Reck, MD, David N. Zacks, MD, PhD, and Maya Eibschitz- Tsimhoni, MD BBSs ^ 1,;" T^ J ^ ™ LJ BlB# n FIG. 1. A. Fundus OD shows tortuous arteriovenous anastomoses centered over the disc and extending to the equator. B. Fundus OS is normal. C. T2- weighted axial magnetic resonance image ( MRI) with fat suppression shows flow voids in the right basal ganglia and thalamus, consistent with a large arteriovenous malformation ( AVM). D. Enhanced T1 - weighted axial MRI shows high signal in areas of anomalous vessels. E. Three- dimensional reformatted magnetic resonance angiogram, viewed from above, shows the AVM. Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, Arm Arbor, Michigan. Address correspondence to Maya Eibschitz- Tsimhoni, MD, Assistant Professor of Ophthalmology, Kellogg Eye Center, University of Michigan Medical School, Ann Arbor, MI 48105; E- mail: mayae@ umich. edu Abstract: A 7- year- old girl who failed a vision screening examination was found to have a retinal arteriovenous malformation ( AVM) in her right eye along with a small angioma of her right lower lip. Magnetic resonance imaging and cerebral angiography revealed a large AVM involving the thalamus and basal ganglia as well as a small AVM J Neuro- Ophthalmol, Vol. 25, No. 3, 2005 205 J Neuro- Ophthalmol, Vol. 25, No. 3, 2005 Reck et al involving the right ophthalmic artery. The combination of retinal and intracranial AVMs is known as Wyburn- Mason syndrome. The retinal AVMs of this syndrome do not grow or bleed. Visual loss is usually the result of optic neuropathy from associated orbitocranial AVMs. The natural course of the intracranial AVMs of this syndrome is poorly documented. However, they tend to be extensive and inaccessible and therefore difficult to treat. { JNeuro- Ophthalmol 2005; 25: 205- 208) A 7- year- old girl failed a vision screening examination and was referred for evaluation. Visual acuity was 20/ 40 OD and 20/ 20 OS. Ophthalmologic examination was normal apart from a striking finding in the retina OD, consisting of massively dilated, tortuous arteriovenous anastomoses centered over the optic disc and extending to the equator ( Fig. 1A, B). Brain magnetic resonance imaging ( MRI) ( Fig. 1C, D) and cerebral angiography ( Fig. 2) disclosed an extensive arteriovenous malformation ( AVM) of the right basal ganglia and thalamus and a small AVM of the right ophthalmic artery. An angioma was present on the right lower lip ( Fig. 3). Wyburn- Mason syndrome ( WMS), also known as the Bonnet- Dechaume- Blanc syndrome, is a rare nonhereditary phakomatosis characterized by congenital ipsilateral retinal, brain ( usually midbrain), and, less frequently, facial angiomas ( 1- 3). Bonnet et al ( 1) first noted the combination of retinal and intracranial AVMs in 1937, but the eponym derives from the more comprehensive report of Wyburn- FIG. 2. Catheter vertebral angiogram shows the vascular blush of the arteriovenous malformation. FIG. 3. Right lower lip angioma. Mason of 27 cases with retinal AVMs, 22 of whom also had intracranial AVMs ( 2). The condition results from a disturbance in the embryologic development of the vascular mesoderm ( 4). The retinal lesion consists of a markedly dilated and tortuous arteriole contiguous with a similar vein involving the optic disc and retina ( 4,5). Fluorescein angiography typically shows a rapid transit of dye through the lesion without leakage ( 5). Recognition of the association between the retinal and intracranial lesions is important because it may allow early identification of intracranial AVMs ( 4). The incidence of intracranial AVMs in cases with retinal AVMs is not well denned ( 2,5,6- 8). Theron et al ( 3) observed that of the 80 cases reported to have retinal AVMs before 1974, 25 also had intracranial AVMs, and of these 25 cases, 10 also had facial AVMs. The retinal AVMs usually do not grow or bleed and are usually not responsible for visual loss ( 5). In three cases reported with a follow up of 2 to 15 years ( 11,15,16), the ocular findings remained stable without treatment. However, Effron et al ( 14) reported a case of neovascular glaucoma resulting from retinal ischemia from retinal arteriovenous shunting. There are several reports of cases presenting with decreased visual acuity and progressive optic neuropathy from accompanying orbitocranial AVMs ( 9- 12,14,17). The associated intracranial AVMs may cause considerable neurologic morbidity and mortality Twenty- one reported Wyburn- Mason cases have contained diagnostic imaging or autopsy information sufficient to confirm the 206 © 2005 Lippincott Williams & Wilkins Wyburn- Mason Syndrome J Neuro- Ophthalmol, Vol. 25, No. 3, 2005 TABLE 1. Clinical features often previously reported cases of Wyburn- Mason syndrome whose intracranial arteriovenous malformations were not treated and who had adequate follow up Clinical presentation Total cases Outcome Retinal AVM ( 13) Nose bleeding ( 23) Neurologic manifestations ( 2,11,15,16) Optic neuropathy ( 14) 1 Death from intracranial hemorrhage 1 year later 1 Ipsilateral blindness secondary to enlargement of orbitocranial AVM after external carotid artery ligation 7 Death from intracranial hemorrhage ( n = 1), worsening hemiplegia ( n = 3), stable hemiplegia ( n = 1), death from unrelated causes ( n = 2) 1 Ipsilateral blindness from neovascular glaucoma AVM, arteriovenous malformation. diagnosis ( 2,9- 24). Eleven of these cases presented with symptoms attributable to the intracranial AVM ( 2,11,15,16, 19- 22), seven with optic neuropathy, ( 9,10,12,14,17,18), and three with symptoms from extracranial AVMs ( retinal AVM in one ( 13), exophthalmos in one ( 24), and nosebleeds in one ( 23)). Among the ten of these 21 reported cases whose intracranial AVMs were not treated and were adequately followed ( range, 1- 15 years; average, 6 years) ( Table 1), one presented with a retinal AVM and died 1 year later of intracranial hemorrhage at the age of 9 years ( 13); one presented with nose bleeding, underwent ligation of the external carotid artery for recurrent bleeding from a facial AVM, and went blind in the ipsilateral eye over 4 years from enlargement of the orbital portion of the AVM ( 23). Seven of these ten cases presented with symptoms attributable to the intracranial AVM ( hemiplegia in six, hemianopia in three, ataxia in two, seizure in one) ( 2,11,15,16); three died during follow up, only one of a cause ( subarachnoid hemorrhage) attributable to the AVM; three had worsening hemiplegia; one had stable hemiplegia ( 2,11,15,16). One of the ten cases presented with a unilateral optic neuropathy and developed neovascular glaucoma and prephthisis over a 20- month period ( 14). Given this sparse and anecdotal information, no firm conclusions can be drawn regarding the natural history of asymptomatic intracranial AVMs found after the discovery of retinal AVMs. There is no evidence that intracranial AVMs in cases with Wyburn- Mason syndrome have a natural history different from intracranial AVMs that occur without retinal AVMs, but they tend to be more extensive and deeper than the average isolated intracranial AVM. Until better information becomes available, we suggest that asymptomatic intracranial AVMs discovered after identification of retinal AVMs be approached exactly as one would approach isolated asymptomatic intracranial AVMs, which have an estimated rupture rate of 2.2% per year ( 25). With newer techniques of endovascular embolization, surgical extirpation, and irradiation, it is sometimes possible to eliminate the intracranial AVMs without compromise of the cerebral circulation ( 10,12,17,21,26). In our case, observation was deemed the best course of action as a result of the large size of the lesion and its inaccessibility. REFERENCES 1. Bonnet P, Dechaume J, Blanc E. L'anevrysme cirsoi'de de la retine ( anevrysme recemeux): ses relations avec l'aneurysme cirsoi'de de la face et avec l'anevrysme cirsoi'de du cerveau. J Med Lyon 1937; 18: 165- 78. 2. Wyburn- Mason R. Arteriovenous aneurysm of mid- brain and retina, facial naevi, and mental changes. Brain 1943; 66: 163- 203. 3. 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