Folz Caroline, Seas Andreas, Chinyengetere Fadzai, Beasley Christopher, Harris Adam, Oyedeji Charity, Ortel Thomas L, Shah Bhavya R, Lad Shivanand, Harward Stephen C
1Departments of Neurosurgery.
2Department of Biomedical Engineering, Duke Pratt School of Engineering, Durham, North Carolina.
J Neurosurg Case Lessons. 2024 Jun 10;7(24). doi: 10.3171/CASE23766.
Essential tremor (ET) is one of the most common movement disorders worldwide. In medically refractory ET, deep brain stimulation (DBS) of the ventral intermediate nucleus of the thalamus is the current standard of care. However, DBS carries an inherent 2% to 3% risk of hemorrhage, a risk that can be much higher in patients with concomitant coagulopathy. Magnetic resonance imaging-guided focused ultrasound (MRgFUS) thalamotomy is a surgical alternative that is highly effective in treating ET, with no reports of intracranial hemorrhage to date.
This is the first documented case of successful MRgFUS thalamotomy in a patient with von Willebrand disease (VWD). A 60-year-old left-handed male had medically refractory ET, VWD type 2B, and a family history of clinically significant hemorrhage after DBS. He underwent right-sided MRgFUS thalamotomy and received a perioperative course of VONVENDI (recombinant von Willebrand factor) to ensure appropriate hemostasis. Postprocedure imaging confirmed a focal lesion in the right thalamus without evidence of hemorrhage. The patient reported 90% improvement of his left-hand tremor and significant improvement in his quality of life without obvious side effects.
MRgFUS thalamotomy with peri- and postoperative hematological management is a promising alternative to DBS for patients with underlying coagulopathies.
特发性震颤（ET）是全球最常见的运动障碍之一。在药物难治性ET中，丘脑腹中间核的深部脑刺激（DBS）是当前的标准治疗方法。然而，DBS存在2%至3%的固有出血风险，在合并凝血功能障碍的患者中，这种风险可能会高得多。磁共振成像引导聚焦超声（MRgFUS）丘脑切开术是一种手术替代方法，在治疗ET方面非常有效，迄今为止尚无颅内出血的报告。
这是第一例记录在案的成功对一名患有血管性血友病（VWD）的患者进行MRgFUS丘脑切开术的病例。一名60岁的左撇子男性患有药物难治性ET、2B型VWD，且有DBS术后发生具有临床意义出血的家族史。他接受了右侧MRgFUS丘脑切开术，并接受了VONVENDI（重组血管性血友病因子）的围手术期治疗以确保适当止血。术后成像证实右侧丘脑有一个局灶性病变，无出血迹象。患者报告其左手震颤改善了90%，生活质量显著提高，且无明显副作用。
对于有潜在凝血功能障碍的患者，MRgFUS丘脑切开术及围手术期和术后血液学管理是DBS的一种有前景的替代方法。
