Zhang Yu-Kun, Geng Su-Min, Liu Pi-Nan, Lv Gang
Beijing Tiantan Hospital, Capital Medical University, Department of Neurosurgery, Beijing, China.
Turk Neurosurg. 2016;26(1):153-65. doi: 10.5137/1019-5149.JTN.12145-14.2.
The Klippel-Feil syndrome (KFS) has been reported to be associated with intracranial neoplasms, most frequently epidermoid or dermoid cysts. To our knowledge, however, patients who present with a posterior fossa dermoid cyst (DC) and KFS are extremely rare with only 24 previously reported cases in the English literature worldwide. Therefore, we present the first report of a patient with a craniocervical ruptured DC accompanied by craniovertebral junction (CVJ) anomalies, KFS and mirror movement. Meanwhile, a literature review of KFS accompanying with posterior fossa DC discusses these conditions from the embryological, anatomical, clinical and therapeutic perspectives. Additionally, the combination of CVJ anomalies, KFS and DC may represent a new syndrome that has previously gone unnoticed.
据报道，Klippel-Feil综合征（KFS）与颅内肿瘤有关，最常见的是表皮样囊肿或皮样囊肿。然而，据我们所知，出现后颅窝皮样囊肿（DC）和KFS的患者极为罕见，全球英文文献中此前仅报道过24例。因此，我们首次报告了1例伴有颅颈交界区（CVJ）异常、KFS和镜像运动的颅颈区破裂DC患者。同时，对伴有后颅窝DC的KFS进行文献综述，从胚胎学、解剖学、临床和治疗角度对这些情况进行了讨论。此外，CVJ异常、KFS和DC的组合可能代表一种以前未被注意到的新综合征。
