Retinal and intracranial arteriovenous malformations: Wyburn-Mason syndrome

Retinal and intracranial arteriovenous malformations: Wyburn-Mason syndrome
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DOI:
10.1097/01.wno.0000177301.82963.9f
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发表时间:
2005-09-01
影响因子:
2.9
通讯作者:
Eibschitz-Tsimhoni, M
Eibschitz-Tsimhoni, M
中科院分区:
医学3区
文献类型:
--
作者:
Reck, SD;Zacks, DN;Eibschitz-Tsimhoni, M

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一位7岁的女孩,视力筛查失败,被发现右眼有视网膜动静脉畸形(AVM)沿着右下唇有一个小血管瘤。磁共振成像和脑血管造影显示一个大的动静脉畸形,涉及丘脑和基底节,以及一个小的动静脉畸形,涉及右眼动脉。视网膜和颅内AVM的组合被称为Wyburn-Mason综合征。这种综合征的视网膜动静脉畸形不会生长或出血。视力丧失通常是相关眶颅AVM引起的视神经病变的结果。这种综合征的颅内AVM的自然病程记录不多。然而,它们往往是广泛的和难以接近的,因此难以治疗。
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 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.