Introduction

Here, we describe a rare case of a spinal arteriovenous fistula in a patient with known hereditary hemorrhagic telangiectasia (HHT) and spontaneous intraspinal hemorrhage. Furthermore, we provide a brief review of the literature on the formation of spinal arteriovenous malformations (AVM) in relation to this disease.

Case presentation

The case involves a 54-year-old male with known HHT. At the age of 49, the patient experienced recurrent cystitis. Urological evaluation ruled the cause to be neurological and subsequent imaging revealed a thoracic AVM. Four years later, the patient was admitted to A&E with chest pain and loss of function of the lower extremities and right arm, suspicious for ruptured aortic dissection. Trauma-CT excluded this and a final diagnosis of ruptured spinal AVM was made. Seven months post-injury, a spinal angiography was performed confirming the AVM. The remaining AVM was embolized under general anesthesia with acceptable results.

Discussion

Spinal involvement in HHT is exceedingly rare but remains an important differential diagnosis, especially when patients present autonomic symptoms as these could potentially progress to life-threatening complications. The literature and the presented case indicate the prudence of closing spinal AVMs in HHT in case of symptoms, including autonomic, such as bladder dysfunction.

中文翻译：

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遗传性出血性毛细血管扩张症脊柱受累的罕见病例

 介绍

在此，我们描述了一名罕见的脊髓动静脉瘘病例，该患者患有已知的遗传性出血性毛细血管扩张症（HHT）和自发性椎管内出血。此外，我们简要回顾了与该疾病相关的脊髓动静脉畸形（AVM）形成的文献。

 案例展示

该病例涉及一名 54 岁男性，已知患有 HHT。患者49岁时，膀胱炎反复发作。泌尿系统评估判定原因为神经系统，随后的影像学检查显示胸部动静脉畸形。四年后，患者因胸痛、下肢和右臂功能丧失而被送往急诊室，怀疑主动脉夹层破裂。创伤 CT 排除了这一点，最终诊断为脊髓动静脉畸形破裂。受伤后七个月，进行了脊髓血管造影以确认 AVM。剩余的动静脉畸形在全身麻醉下进行栓塞，结果令人满意。

 讨论

HHT 中的脊柱受累极为罕见，但仍然是一个重要的鉴别诊断，特别是当患者出现自主神经症状时，因为这些症状可能会发展为危及生命的并发症。文献和所提出的病例表明，在出现症状（包括自主神经症状，例如膀胱功能障碍）的情况下，在 HHT 中关闭脊髓 AVM 是谨慎的。