软骨发育不全症婴儿的颈椎脊髓压迫：神经影像学检查是否应该常规进行？
Cervical spinal cord compression in infants with achondroplasia: should neuroimaging be routine?
机构信息
Division of Genetics, Birth Defects and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.
Director, Sleep Medicine Center, Ann & Robert H. Lurie Children's Hospital of Chicago, Professor of Pediatrics & Neurology, Feinberg School of Medicine, Northwestern University, Evanston, Illinois, USA.
出版信息
Genet Med. 2019 Feb;21(2):459-463. doi: 10.1038/s41436-018-0070-0. Epub 2018 Jun 5.
PURPOSE
To examine results of magnetic resonance imaging (MRI), polysomnograms (PSG), and patient outcomes in patients with achondroplasia in light of recent screening recommendations for infants with achondroplasia.
METHODS
We reviewed medical records of 49 patients with achondroplasia followed at our institution between September 1997 and January 2017, including physical exams, MRIs, PSGs (when available), and surgical histories. Appropriate PSG data were available for 39 of these patients.
RESULTS
Twenty-seven of 49 patients had cervical cord compression on MRI, and 20 of those patients required surgery. Central apnea was detected in 2/23 patients with cervical cord compression in whom PSG data was available. Physical exam revealed depressed deep-tendon reflexes in two patients with cord compression and one patient without cord compression. Besides hypotonia in some, the neurological exams of these patients were unremarkable.
CONCLUSIONS
Cervical cord compression is a common occurrence in infants with achondroplasia and necessitates surgical intervention in some patients. Physical exam and PSG are poor predictors of the presence of cord compression or the need for surgery. All infants with achondroplasia should have MRIs of the craniocervical junction in the first 6 months of life.
目的
根据最近对软骨发育不全婴儿的筛查建议，研究软骨发育不全患者的磁共振成像（MRI）、多导睡眠图（PSG）和患者结果。
方法
我们回顾了 1997 年 9 月至 2017 年 1 月期间在我们机构就诊的 49 例软骨发育不全患者的病历，包括体格检查、MRI、PSG（如有）和手术史。这些患者中有适当的 PSG 数据的有 39 例。
结果
49 例患者中有 27 例 MRI 显示颈髓受压，其中 20 例患者需要手术。在 23 例颈髓受压患者中，有 2 例 PSG 检测到中枢性呼吸暂停。体格检查显示 2 例有脊髓受压的患者和 1 例无脊髓受压的患者深腱反射减弱。除了一些患者的张力减退外，这些患者的神经系统检查均无明显异常。
结论
颈髓受压是软骨发育不全婴儿的常见现象，一些患者需要手术干预。体格检查和 PSG 是预测脊髓受压或手术需要的不良预测指标。所有软骨发育不全婴儿应在生命的前 6 个月接受颅颈交界区的 MRI。
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