Yataganbaba Alper, Parr William C H, Hill Jackson C, Seex Kevin A
Macquarie Neurosurgery, Macquarie University Hospital, Sydney, NSW, Australia.
3DMorphic Pty Ltd., Sydney, NSW, Australia.
J Spine Surg. 2025 Jun 27;11(2):354-362. doi: 10.21037/jss-24-157. Epub 2025 Jun 10.
The surgical management of occipitocervical junction (OCJ) pathologies is challenging due to the unique anatomy and biomechanics. Ehlers-Danlos syndrome (EDS) is a heterogeneous group of rare hereditary disorders of connective tissue (HDCTs) resulting from mutations in collagen genes. In OCJ pathologies related to EDS, occipitocervical fusion (OCF) is preferred when conservative treatment proves insufficient. The literature indicates that complications associated with OCF are more common in patients with EDS and other HDCTs. The management of failure in OCF surgery is particularly challenging. This case report provides an example of surgical management of failed OCF using patient-specific atlantoaxial joint spacers.
In this case report, we describe a male patient with EDS who underwent OCF and experienced complete reabsorption of the bone graft and nonunion. The condition was then successfully treated using custom-made, anatomically conforming 3D-printed titanium alloy (Ti-6Al-4V) facet joint devices. The clival-axial angle was increased from 127.5 degrees after the first operation to 152.4 degrees with the facet joint devices. At 8 months postoperatively, X-rays demonstrated no change in alignment. At the 15-month follow-up, the patient reported no symptoms except for morning muscle spasms.
Although an extensive body of literature studies the effects of EDS on connective tissue and its clinical manifestations, studies investigating its impact on bone biology and bone fusion are limited. The C1-2 level is the most susceptible to nonunion and implant failure in OCF procedures. In the case we present, nonunion and implant failure occurred specifically at this level. One of the significant advancements in C1-2 fusion in recent years is the technique described by Goel in 2004, particularly for basilar invagination and atlantoaxial dislocation. This method involves C1-2 facet distraction using intraarticular spacers and bone grafts. In this case report, the 2004 technique developed by Goel was modified to use patient-specific 3D-printed titanium cages in the C1-2 joint space. The addition of patient-specific titanium cages aided physiological realignment, which may have led to greater stability than screw fixation alone and most importantly a solid fusion in an obviously difficult fusion environment.
由于枕颈交界区（OCJ）独特的解剖结构和生物力学特性，其病理状况的外科治疗具有挑战性。埃勒斯-当洛综合征（EDS）是一组由胶原蛋白基因突变引起的罕见遗传性结缔组织疾病（HDCTs）。在与EDS相关的OCJ病理状况中，当保守治疗效果不佳时，枕颈融合术（OCF）是首选。文献表明，与OCF相关的并发症在EDS和其他HDCTs患者中更为常见。OCF手术失败的处理尤其具有挑战性。本病例报告提供了一个使用定制寰枢关节间隔器对失败的OCF进行外科治疗的实例。
在本病例报告中，我们描述了一名患有EDS的男性患者，他接受了OCF手术，术后骨移植完全吸收且出现骨不连。随后使用定制的、符合解剖结构的3D打印钛合金（Ti-6Al-4V）小关节装置成功治疗了该病症。使用小关节装置后，斜坡-枢椎角从首次手术后的127.5度增加到了152.4度。术后8个月，X线显示对线无变化。在15个月的随访中，患者除了晨起肌肉痉挛外无其他症状。
尽管大量文献研究了EDS对结缔组织的影响及其临床表现，但研究其对骨生物学和骨融合影响的文献有限。在OCF手术中，C1-2水平最易发生骨不连和植入物失败。在我们呈现的病例中，骨不连和植入物失败恰好发生在这个水平。近年来C1-2融合的一项重大进展是Goel在2004年描述的技术，特别是用于基底凹陷和寰枢椎脱位。该方法包括使用关节内间隔器和骨移植进行C1-2小关节撑开。在本病例报告中，对Goel 2004年开发的技术进行了改进，在C1-2关节间隙使用定制的3D打印钛笼。添加定制钛笼有助于生理复位，这可能比单纯螺钉固定具有更高的稳定性，最重要的是在明显困难的融合环境中实现了牢固融合。
