努南综合征罕见的神经系统表现及其治疗--病例报告。

Asian journal of neurosurgery Pub Date : 2024-03-26 eCollection Date: 2024-03-01 DOI:10.1055/s-0043-1772757
Shalvi Mahajan, Vidhya Narayanan, Vinitha Narayan, Aparna Depuru
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引用次数: 0

摘要

虽然努南综合征是一种比较常见的常染色体显性遗传的先天性疾病,但它与脑血管畸形的关联却非常罕见。我们报告了一例 20 岁患有努南综合征并伴有脑血管动脉瘤的病例,该病例成功地接受了血管内夹闭术。迄今为止,只有四例努南综合征脑血管动脉瘤的文献报道。据我们所知,这是第五例,也是第一例通过血管内旋转术成功治疗的病例。我们在此讨论该病例的治疗方法,该病例有多种并发症,如先天性心脏病和颅椎交界处异常。
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A Rare Neurological Presentation of Noonan Syndrome and Its Management-A Case Report.

Although Noonan syndrome is a relatively common congenital disorder with autosomal dominant inheritance, its association with cerebrovascular anomalies is rare. We report a case of a 20-year-old with Noonan syndrome with cerebrovascular aneurysm, who underwent successful endovascular coiling. Only four cases of cerebrovascular aneurysms in Noonan syndrome have been reported in the literature so far. To the best of our knowledge, this is only the fifth reported case and the first one that has been treated successfully with endovascular coiling. We hereby discuss the management of this case, which had several comorbidities like congenital heart disease and craniovertebral junction anomaly.

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