Still Megan E H, Blatt Jason E
Lillian S. Wells Department of Neurosurgery, University of Florida, Gainesville, Florida.
J Neurosurg Case Lessons. 2024 Dec 9;8(24). doi: 10.3171/CASE24411.
Spinal muscular atrophy (SMA) is an inherited disease that leads to weakness, loss of ambulation, and progressive scoliosis in many patients, frequently requiring early spinal fusion. Nusinersen is a disease-modifying agent that improves symptoms and slows the progression of SMA but requires serial lumbar punctures for intrathecal drug delivery. Spinal fusion for scoliosis has historically been a contraindication for nusinersen therapy, as the fused spinal laminae block access to the thecal sac.
Here, the authors report a case wherein a patient with SMA and prior scoliosis surgery underwent a one-level lumbar laminectomy with the placement of four titanium microscrews at the corners of the bone window thatfunction as fiducial targets for radiography-guided lumbar punctures. This procedure allowed the patient to receive nusinersen injections easily and successfully on an ongoing basis.
Nusinersen is an important novel treatment for children with SMA. Thus, it is imperative to discover new ways to administer intrathecal injections to increase the number of patients able to undergo this therapy. The described one-level laminectomy with microscrew placement for serial lumbar punctures can increase the number of patients able to receive nusinersen and other intrathecal therapies. https://thejns.org/doi/10.3171/CASE24411.
脊髓性肌萎缩症（SMA）是一种遗传性疾病，许多患者会出现肌无力、行走能力丧失和进行性脊柱侧弯，常常需要早期进行脊柱融合术。诺西那生是一种改善症状并减缓SMA疾病进展的疾病修正药物，但需要通过连续腰椎穿刺进行鞘内给药。从历史上看，脊柱侧弯的脊柱融合术一直是诺西那生治疗的禁忌证，因为融合的椎板会阻碍进入蛛网膜下腔。
在此，作者报告了一例病例，一名患有SMA且之前接受过脊柱侧弯手术的患者接受了单节段腰椎椎板切除术，并在骨窗的四个角放置了四个钛微螺钉，这些螺钉作为X线引导下腰椎穿刺的基准靶点。该手术使患者能够持续轻松且成功地接受诺西那生注射。
诺西那生是治疗SMA患儿的一种重要的新型疗法。因此，必须探索新的鞘内注射给药方法，以增加能够接受该疗法的患者数量。所描述的用于连续腰椎穿刺的单节段椎板切除术加微螺钉放置可以增加能够接受诺西那生和其他鞘内疗法的患者数量。https://thejns.org/doi/10.3171/CASE24411 。
