Department of Neurosurgery, Stanford University School of Medicine, Stanford, California, USA.
World Neurosurg. 2013 Sep-Oct;80(3-4):437.e1-8. doi: 10.1016/j.wneu.2012.01.030. Epub 2012 Jan 25.
Spondyloepiphyseal dysplasia (SED) is a rare disease that causes vertebral abnormalities and short-trunk dwarfism. The two forms of SED are congenita and tarda. Each form arises in a genetically distinct fashion and manifests with a different set of complications. SED congenita is more severe, and patients usually display atlantoaxial instability and odontoid hypoplasia. Patients often have various neurologic deficits caused by compression of the spinal cord. The region most affected is the craniovertebral junction (CVJ).
A review of the PubMed Database, 1970 to the present, was performed using the search term "spondyloepiphyseal dysplasia" and limited to English-language articles. The search identified 22 articles discussing COL2A1 gene mutations and 10 clinical articles describing patients with SED and associated spinal abnormalities.
Findings from the literature concerning diagnosis, presenting symptoms, and intervention taken are discussed. Additionally, a patient with a diagnosis of SED congenita who presented with bilateral hand numbness is described. The patient underwent a suboccipital craniotomy; posterior decompression of the foramen magnum, the arch of C1, and the lamina of C2; and instrumented fusion of C1-3 to relieve his symptoms.
In this article, the authors survey the current literature surrounding neurosurgical interventions and present an algorithm for treatment.
脊椎骨骺发育不良（SED）是一种罕见的疾病，可导致椎体异常和短躯干侏儒症。SED 有先天性和迟发性两种形式。每种形式都是以遗传上不同的方式产生的，并表现出不同的并发症。先天性 SED 更为严重，患者通常表现为寰枢椎不稳和齿状突发育不全。患者常因脊髓受压而出现各种神经功能缺损。受影响最严重的部位是颅颈交界区（CVJ）。
使用搜索词“脊椎骨骺发育不良”，对 1970 年至今的 PubMed 数据库进行了回顾，限制在英文文章。搜索确定了 22 篇讨论 COL2A1 基因突变的文章和 10 篇描述 SED 患者和相关脊柱异常的临床文章。
讨论了文献中关于诊断、临床表现和干预措施的发现。此外，还描述了一例诊断为先天性 SED 的患者，表现为双侧手部麻木。患者接受了枕下颅骨切开术；枕骨大孔、C1 弓和 C2 板后部减压；C1-3 节段的器械融合以缓解症状。
本文作者调查了神经外科干预的现有文献，并提出了一种治疗方案。
