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怀伯恩 - 梅森综合征:一篇叙述性综述。

Wyburn-Mason Syndrome: A Narrative Review.

作者信息

Shameem Yasmin, Irshad Saleha, Mirza Nimrah, Hassan Natalie

机构信息

Paediatrics, Anglia Ruskin University, Chelmsford, GBR.

Critical Care, Basildon University Hospital, Basildon, GBR.

出版信息

Cureus. 2024 Aug 28;16(8):e68070. doi: 10.7759/cureus.68070. eCollection 2024 Aug.

Abstract

Wyburn-Mason syndrome is a rare congenital disorder characterized by arteriovenous malformations (AVMs) in the retina, brain, and occasionally the skin. The syndrome results from embryonic vascular abnormalities and presents with a wide spectrum of clinical manifestations, classified into three groups based on severity. Diagnosis relies heavily on imaging techniques, with optical coherence tomography (OCT) and cerebral angiography playing crucial roles. Management is typically conservative due to the stability of most AVMs, but intervention may be necessary when the rupture risk of intracranial AVMs exceeds 2.2% per year. Treatment options include endovascular embolization, surgical resection, and emerging therapies like intravitreal injections. This review emphasizes the importance of a multidisciplinary approach involving ophthalmologists, neurologists, and interventional radiologists, as well as regular monitoring of asymptomatic AVMs to optimize patient outcomes and quality of life.

摘要

怀伯恩 - 梅森综合征是一种罕见的先天性疾病,其特征为视网膜、脑部,偶尔还有皮肤出现动静脉畸形(AVM)。该综合征由胚胎血管异常引起,临床表现多样,根据严重程度分为三组。诊断主要依赖成像技术,光学相干断层扫描(OCT)和脑血管造影起着关键作用。由于大多数动静脉畸形的稳定性,治疗通常较为保守,但当颅内动静脉畸形的破裂风险每年超过2.2%时,可能需要进行干预。治疗选择包括血管内栓塞、手术切除以及玻璃体内注射等新兴疗法。本综述强调了眼科医生、神经科医生和介入放射科医生多学科方法的重要性,以及对无症状动静脉畸形进行定期监测以优化患者预后和生活质量的重要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dad2/11437018/756f47ffd9f3/cureus-0016-00000068070-i01.jpg

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本文引用的文献

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Catheter Embolization of an Orbital Arteriovenous Fistula in a Patient With Wyburn-Mason Syndrome.
Cureus. 2023 Mar 31;15(3):e36949. doi: 10.7759/cureus.36949. eCollection 2023 Mar.
2
Ultrawide Field Imaging of Progressive Retinal Arteriovenous Malformation in a Pediatric Patient with Wyburn-Mason Syndrome.
Ophthalmic Surg Lasers Imaging Retina. 2022 Jan;53(1):46-48. doi: 10.3928/23258160-20211210-02. Epub 2022 Jan 1.
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Ophthalmic Surg Lasers Imaging Retina. 2020 Jul 1;51(7):418-419. doi: 10.3928/23258160-20200702-08.
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Am J Ophthalmol Case Rep. 2020 Mar 4;18:100640. doi: 10.1016/j.ajoc.2020.100640. eCollection 2020 Jun.
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10
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