Allsopp G M, Griffiths S, Sgouros S
Department of Neurosurgery, Birmingham Children's Hospital, UK.
Childs Nerv Syst. 2001 Jan;17(1-2):69-70. doi: 10.1007/s003810000377.
Klippel-Feil syndrome is characterized by a variable degree of congenital fusion of the cervical spine. It can exist in association with other mesodermal deformities affecting several systems. Symptomatic cervical disc prolapse in the context of the syndrome is well documented in young adults. We present a case of a 5-year-old girl with the syndrome, who presented with mild motor developmental delay and cervical cord compression from a prolapsed C3/4 intervertebral disc, seen on MR scan. She also had posterior elements fused from C-2 to C-4. She improved after cervical discectomy. The presence of degenerative disc disease at such a young age and at a level mechanically protected by posterior element fusion indicates a congenital primary defect, rather than mechanical stress fatigue.
克-费综合征的特征是颈椎存在不同程度的先天性融合。它可与影响多个系统的其他中胚层畸形并存。该综合征患者出现症状性颈椎间盘突出在年轻成年人中已有充分记录。我们报告一例患有该综合征的5岁女孩,她表现为轻度运动发育迟缓,磁共振扫描显示C3/4椎间盘突出导致颈髓受压。她还存在C2至C4的后部结构融合。颈椎间盘切除术后她病情好转。在如此年轻的年龄且处于由后部结构融合提供机械保护的节段出现椎间盘退变疾病,表明存在先天性原发性缺陷,而非机械性应力疲劳。