Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Hôpital la Pitié Salpêtrière, Paris, France.
APHP.Sorbonne Université, GH Pitié Salpêtrière et Trousseau, Service de Génétique, Centre de référence "déficiences intellectuelles de causes rares", Paris, France.
Clin Genet. 2024 Jul;106(1):90-94. doi: 10.1111/cge.14515. Epub 2024 Feb 29.
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.
中枢神经系统（CNS）硬脑膜动静脉瘘（DAVF）已在 PTEN 相关错构瘤综合征（PHTS）中报道。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，我们研究了在我们实验室在 2007 年至 2020 年间鉴定出存在 PTEN 致病性变异的病例（n=58），并且这些病例都有脑部影像学检查。有两名患者患有 DAVF（2/58，3.4%），均处于晚期：一名 34 岁男性，左侧横窦 DAVF 立即有出血风险，一名 21 岁女性因 torcular DAVF 出现急性颅内高压。有趣的是，并非所有患者都进行了 3D TOF/MRA 检查，这是检测 DAVF 的最佳序列。早期诊断 DAVF 可以挽救生命，并且与已发展、增殖或复杂的病变相比，更容易治疗。因此，在进行基因诊断时，应考虑对 PHTS 患者进行脑部 MRI 检查，包括 3D TOF/MRA，并根据具体情况进行后续监测。
