Donoho Daniel A, Singer Timothy G, Lazaro Tyler, Bauer David F
Pediatric Neurosurgery, Children's National Hospital, Washington, USA.
Surgery, University of California Los Angeles David Geffen School of Medicine, Los Angeles, USA.
Cureus. 2021 Dec 18;13(12):e20503. doi: 10.7759/cureus.20503. eCollection 2021 Dec.
Seventy-six percent of pediatric patients with Loeys-Dietz syndrome (LDS), a connective tissue disorder driven by a transforming growth factor-beta (TGF-B) pathway mutation, manifest cervical spine malformations. A prior series showed that 16% required surgical stabilization. Spine surgery in LDS is associated with an 88% complication rate due to poor bone quality and cerebrovascular ectasia. Of 77 patients with LDS, one patient who required spine surgery was identified in an institutional database from 2010 to 2020. A 15-year-old with LDS presented with symptomatic cervical myelopathy from a rapidly progressive and unstable cervical deformity. We performed a C5-6 corpectomy and an O-T2 posterior spinal fusion with recombinant human bone morphogenetic protein-2 (rhBMP-2). We achieved correction of her kyphosis and normalization of her neurologic status. She is neurologically well one year postoperatively with bony fusion. The management of a pediatric patient with LDS, orthotopic heart transplantation (OHT), and craniocervical deformity with instability is a novel challenge. Long-segment constructs are beneficial, rather than sparing the occiput or cervicothoracic junction. Off-label BMP may aid an LDS patient with TGF-B mutation and sternotomy. Surgeons should continue immunomodulatory and antiplatelet medications when required for OHT.
76%的患有洛伊斯-迪茨综合征（LDS）的儿科患者表现出颈椎畸形，LDS是一种由转化生长因子-β（TGF-B）通路突变驱动的结缔组织疾病。先前的一系列研究表明，16%的患者需要手术固定。由于骨质质量差和脑血管扩张，LDS患者进行脊柱手术的并发症发生率为88%。在一个机构数据库中，从2010年到2020年共识别出77例LDS患者，其中1例需要进行脊柱手术。一名15岁的LDS患者因快速进展且不稳定的颈椎畸形出现症状性颈髓病。我们进行了C5-6椎体次全切除术，并使用重组人骨形态发生蛋白-2（rhBMP-2）进行了枕骨至T2后路脊柱融合术。我们实现了对她后凸畸形的矫正以及神经状态的正常化。术后一年，她神经功能良好，实现了骨融合。对患有LDS、原位心脏移植（OHT）以及伴有不稳定的颅颈畸形的儿科患者进行管理是一项新的挑战。长节段固定结构是有益的，而不是避开枕骨或颈胸交界处。非标签使用骨形态发生蛋白可能有助于患有TGF-B突变且需要进行胸骨切开术的LDS患者。对于OHT患者，外科医生应在必要时继续使用免疫调节和抗血小板药物。
