Roth Steven G, Feldman Michael J, Borst Alexandra J, Froehler Michael T
Department of Neurological Surgery, Vanderbilt University Medical Center, T-4224 MCN, Nashville, TN, 37232-2380, USA.
Cerebrovascular Program, Vanderbilt University Medical Center and Vanderbilt Children's Hospital, Nashville, TN, USA.
Childs Nerv Syst. 2022 May;38(5):1029-1033. doi: 10.1007/s00381-021-05321-6. Epub 2021 Aug 18.
Dural arteriovenous fistulae (dAVF) are an uncommon feature of PTEN hamartoma tumor syndrome (PHTS). We report a case of an adolescent male diagnosed with PHTS following the treatment of multiple intracranial dAVF to emphasize the association of vascular anomalies with this disorder and discuss potential implications.
An adolescent male presented with bilateral proptosis secondary to intracranial venous hypertension. Workup revealed the presence of a complex intracranial dAVF which was treated with several embolization procedures. Following treatment, a de novo dAVF was identified on surveillance imaging. A genetic workup revealed a pathogenic mutation in PTEN consistent with a diagnosis of PHTS.
Recognition that PHTS may be associated with dAVF, and potentially delayed spontaneous formation of dAVF, is critically important due to the potential for devastating yet preventable neurologic sequelae.
硬脑膜动静脉瘘（dAVF）是PTEN错构瘤肿瘤综合征（PHTS）的一种罕见特征。我们报告一例青少年男性病例，该患者在接受多处颅内dAVF治疗后被诊断为PHTS，以强调血管异常与该疾病的关联并讨论潜在影响。
一名青少年男性因颅内静脉高压出现双侧眼球突出。检查发现存在复杂的颅内dAVF，并接受了多次栓塞治疗。治疗后，在监测影像上发现了新发的dAVF。基因检查发现PTEN存在致病突变，符合PHTS的诊断。
认识到PHTS可能与dAVF相关，且可能延迟dAVF的自发形成，这一点至关重要，因为可能会导致严重但可预防的神经后遗症。
