PDF(Pubmed)
Abstract：
Klippel-Feil syndrome (KFS) is characterized by the congenital fusion of the cervical vertebrae and is sometimes accompanied by anomalies in the craniocervical junction. In basilar invagination (BI), which is a dislocation of the dens in an upper direction, compression of the brainstem and cervical cord results in neurological defects and surgery is required. A 16-year-old boy diagnosed with KFS and severe BI presented with spastic tetraplegia, opisthotonus and dyspnea. CT scans showed basilar impression, occipitalization of C1 and fusion of C2/C3. MRI showed ventral compression of the medullocervical junction. Posterior occipitocervical reduction and fusion along with decompression were performed. Paralysis gradually improved postoperatively over 3 weeks. However, severe spasticity and opisthotonus persisted and intrathecal baclofen (ITB) therapy was initiated. Following this, opisthotonus disappeared and spasticity of the extremities improved. Rehabilitation therapy continued by controlling the dose of ITB. Five years after the surgery, self-propelled wheelchair driving was achieved and activities of daily life improved. The treatment strategy for patients with BI and congenital anomalies remains controversial. Posterior reduction and internal fixation using instrumentation were effective techniques in this case. Spasticity control achieved through a combination of surgery and ITB treatment enabled the amelioration of therapeutic efficacy of rehabilitation and the improvement of ADL.
摘要：
Klippel-Feil综合征（KFS）的特征是颈椎的先天性融合，有时伴有颅颈交界处的异常。在基底内陷(BI)中，这是一个向上的错位，压迫脑干和颈髓会导致神经系统缺陷，需要手术。一名16岁的男孩被诊断为KFS和严重的BI，表现为痉挛性四肢瘫痪，恶臭和呼吸困难。CT扫描显示基底动脉印模,C1的沉淀和C2/C3的融合。MRI显示延颈交界处腹侧受压。后枕颈复位融合并减压。术后3周麻痹逐渐好转。然而,持续存在严重的痉挛和视声痛,并开始鞘内注射巴氯芬(ITB)治疗.在此之后,偶突消失，四肢痉挛改善。通过控制ITB的剂量继续康复治疗。手术五年后,实现了自行式轮椅驾驶，改善了日常生活活动。BI和先天性异常患者的治疗策略仍存在争议。在这种情况下，后路复位和使用器械的内固定是有效的技术。通过手术和ITB治疗的组合实现痉挛控制，可以改善康复的治疗效果和改善ADL。
