Central nervous system (CNS) dural arteriovenous fistulas (DAVF) have been reported in PTEN‐related hamartoma tumor syndrome (PHTS). However, PHTS‐associated DAVF remain an underexplored field of the PHTS clinical landscape. Here, we studied cases with a PTEN pathogenic variant identified between 2007 and 2020 in our laboratory (n = 58), and for whom brain imaging was available. Two patients had DAVF (2/58, 3.4%), both presenting at advanced stages: a 34‐year‐old man with a left lateral sinus DAVF at immediate risk of hemorrhage, and a 21‐year‐old woman with acute intracranial hypertension due to a torcular DAVF. Interestingly, not all patients had 3D TOF/MRA, the optimal sequences to detect DAVF. Early diagnosis of DAVF can be lifesaving, and is easier to treat compared to developed, proliferative, or complex lesions. As a result, one should consider brain MRI with 3D TOF/MRA in PHTS patients at genetic diagnosis, with subsequent surveillance on a case‐by‐case basis.

中文翻译：

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PTEN相关错构瘤肿瘤综合征患者的脑硬脑膜动静脉瘘

中枢神经系统 (CNS) 硬脑膜动静脉瘘 (DAVF) 已有报道PTEN相关错构瘤肿瘤综合征（PHTS）。然而，PHTS 相关的 DAVF 仍然是 PHTS 临床领域中一个尚未充分探索的领域。在这里，我们研究了案例PTEN我们实验室于 2007 年至 2020 年间发现的致病变异（n= 58），并且可以对其进行脑成像。两名患者患有 DAVF（2/58，3.4%），均已处于晚期：一名 34 岁男性，患有左侧窦 DAVF，面临立即出血风险；一名 21 岁女性，患有急性颅内高压由于扭转 DAVF。有趣的是，并非所有患者都有 3D TOF/MRA（检测 DAVF 的最佳序列）。DAVF 的早期诊断可以挽救生命，并且与已发展的、增殖性的或复杂的病变相比更容易治疗。因此，在进行基因诊断时，应考虑对 PHTS 患者进行脑 MRI 结合 3D TOF/MRA，并根据具体情况进行后续监测。