van de Goor Ank, Schuermans Valérie N E, Postma Alida A, Boselie Toon F M
Departments of Neurosurgery, Maastricht University Medical Center, Maastricht, The Netherlands.
Departments of Maastricht University, Maastricht, The Netherlands.
J Neurosurg Case Lessons. 2024 Oct 28;8(18). doi: 10.3171/CASE24270.
Cavernous malformations (CMs) are vascular malformations that usually occur in the brain and occasionally in the spine. Most CMs are sporadic, but they can also be caused by heterozygous cerebral cavernous malformation (CCM) gene mutations. This case describes an intradural extramedullary CM in a unique location, within a fascicle of the S1 nerve root. This tumor was found to have a CCM2 mutation. An operative video demonstrates the surgical procedure used to remove this S1 intradural extramedullary CM.
A 61-year-old male with an intradural extramedullary CM, located within a fascicle of the S1 nerve root, presented with pain and neurological symptoms. Additional imaging revealed two CCMs. The S1 CM was removed in toto. Subsequently, genetic screening revealed a CCM2 mutation.
Given the rarity of a radicular CM, diagnosis can be challenging. CMs should be considered in patients with radicular pain and corresponding nerve root thickening. When a CM is suspected, imaging of the complete neuraxis should be performed. If multiple CMs are found, genetic screening is indicated. Complete resection of the CM yields good clinical results. The operative video in this case might help surgeons encountering this rare pathology to prepare for surgery. https://thejns.org/doi/10.3171/CASE24270.
海绵状血管畸形（CMs）是一种血管畸形，通常发生于脑部，偶尔也见于脊柱。大多数CMs为散发性，但也可由杂合性脑海绵状血管畸形（CCM）基因突变引起。本病例描述了一个位于S1神经根束内独特位置的硬脊膜内髓外CM。该肿瘤被发现存在CCM2突变。一段手术视频展示了用于切除这个S1硬脊膜内髓外CM的手术过程。
一名61岁男性，患有位于S1神经根束内的硬脊膜内髓外CM，表现为疼痛和神经症状。进一步影像学检查发现了两个CMs。S1的CM被完整切除。随后，基因筛查发现了CCM2突变。
鉴于神经根性CM罕见，诊断可能具有挑战性。对于有神经根性疼痛和相应神经根增粗的患者应考虑CMs。怀疑有CM时，应进行全神经轴的影像学检查。如果发现多个CMs，则需进行基因筛查。CM的完整切除可产生良好的临床效果。本病例的手术视频可能有助于遇到这种罕见病变的外科医生为手术做好准备。https://thejns.org/doi/10.3171/CASE24270
