Division of Neurosurgery, Children's Hospital of Philadelphia, Philadelphia, PA.
Division of Pediatric Intraoperative Neuromonitoring, SpecialtyCare.
Spine (Phila Pa 1976). 2020 Jul 1;45(13):E781-E786. doi: 10.1097/BRS.0000000000003414.
This is a level IV retrospective descriptive study at a single institution.
The objective of the study was to determine the preoperative signs or symptoms prompting cervicomedullary imaging in Jeune syndrome.
Jeune syndrome is a rare autosomal recessive disorder that results in pulmonary compromise from abnormal development of the thorax. Multiple medical comorbidities complicate timely diagnosis of cervicomedullary stenosis, which neurologically jeopardizes this patient population with regards to improper cervical manipulation. Currently, explicit screening of the cervicomedullary junction is not advocated in national guidelines.
The User Reporting Workbench and Center for Thoracic Insufficiency Syndrome (CTIS) Safety Registry was queried for patients with Jeune syndrome under the age of 18 with cervicomedullary stenosis with or without suboccipital craniectomy/craniotomy evaluated at the authors' institution from January 1, 2007 to August 21, 2018. The primary outcome was the clinical reason for cervicomedullary screening. Secondary outcomes were: age at time of surgery, preoperative myelopathy (spasticity, urinary retention), hydrocephalus, postoperative deficits (respiratory, motor, swallowing difficulty), and need for cervical fusion.
Of 32 patients with Jeune syndrome, four (12.5%) had cervicomedullary stenosis requiring decompression. The average age at surgery was 5.25 months (2-9 mo). Two patients underwent imaging due to desaturation events while the other two patients were diagnosed with cervical stenosis as an incidental finding. No patients exhibited clinical myelopathy. Two patients had baseline preoperative swallowing difficulties. None of the patients postoperatively required cervical fusions, nor did they exhibit respiratory deficits, motor deficits, or worsening swallowing difficulties.
Jeune patients should be routinely screened for cervicomedullary stenosis and undergo subsequent prophylactic decompression to minimize or eliminate the development of irreversible neurologic compromise.
这是一项在单一机构进行的四级回顾性描述性研究。
本研究的目的是确定 Jeune 综合征患者行颈髓影像学检查的术前体征或症状。
Jeune 综合征是一种罕见的常染色体隐性遗传病，导致胸廓异常发育引起肺功能受损。多种合并症使颈髓狭窄的及时诊断变得复杂，这对该患者群体造成了神经学危害，因为不当的颈椎操作可能会导致狭窄。目前，国家指南并不提倡明确筛查颈髓连接部。
使用用户报告工作平台和胸壁功能不全综合征（CTIS）安全登记处，对 2007 年 1 月 1 日至 2018 年 8 月 21 日在作者所在机构接受评估的年龄小于 18 岁且伴有或不伴有枕下颅骨切除术/颅骨切开术的 Jeune 综合征患者进行了颈髓狭窄的筛查。主要结果是颈髓筛查的临床原因。次要结果为：手术时的年龄、术前脊髓病（痉挛、尿潴留）、脑积水、术后缺陷（呼吸、运动、吞咽困难）和颈椎融合的需要。
32 例 Jeune 综合征患者中有 4 例（12.5%）存在需要减压的颈髓狭窄。手术平均年龄为 5.25 个月（2-9 个月）。两名患者因呼吸暂停事件而行影像学检查，而另外两名患者则偶然发现颈段狭窄。没有患者出现临床脊髓病。两名患者术前有吞咽困难。术后无患者需要行颈椎融合术，也未出现呼吸功能减退、运动功能障碍或吞咽困难加重。
Jeune 综合征患者应常规筛查颈髓狭窄，并进行后续预防性减压，以最小化或消除不可逆神经功能障碍的发生。
4 级。
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