Achondroplasia Foramen Magnum Score: screening infants for stenosis
Achondroplasia Foramen Magnum Score: screening infants for stenosis
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DOI：
10.1136/archdischild-2020-319625
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发表时间：
2021-02-01
影响因子：
5.2
通讯作者：
Thompson, Dominic
中科院分区：
文献类型：
--
作者：
Cheung, Moira S.;Irving, Melita;Thompson, Dominic
背景：软骨发育不全与大枕骨大孔狭窄（FMS）有关，并具有显著的发病率和猝死风险。需要一种敏感可靠的方法来检测需要进行减压手术的婴儿。本研究旨在用一种新的MRI评分方法描述未选择的连续系列婴儿FMS的发病率和严重程度，并将严重程度与临床检查和心肺睡眠（CRS）研究回顾性地联系起来。方法采用大孔软骨发育不全评分（AFMS），并将其与临床和CRS数据进行回顾性比较。结果36例婴儿（男：女，18:18）中2例（5.6%）未发生FMS (AFMS0)；13例（36.1%）有保留脑脊液间隙的FMS (AFMS1)；3例（8.3%）有FMS伴脑脊液间隙丧失，但无脊髓畸变（AFMS2）；13例（36.1%）有FMS伴颈髓变平无信号改变（AFMS3）；5例（13.9%）有FMS导致颈髓信号改变（AFMS4）。AFMS0-4的平均总呼吸暂停和低呼吸指数（TAHI）分别为3.4、6.41、2.97、10.5和25.8。严重TAHI的特异性为89%，但对AFMS34的敏感性仅为59%。34/36（94%）患者神经系统检查正常。总体而言，9/36（25%）的婴儿需要神经外科手术，手术并发症最小。结论临床检查和CRS对预测脊髓孔狭窄的影响敏感性较低。使用AFMS进行MRI常规筛查有助于发现早期脊髓改变，并有可能降低婴儿发病率和死亡率。
Background Achondroplasia is associated with foramen magnum stenosis (FMS) and significant risk of morbidity and sudden death in infants. A sensitive and reliable method of detecting infants who require decompressive surgery is required. This study aims to describe the incidence and severity of FMS in an unselected, sequential series of infants using a novel MRI score and retrospectively correlate severity with clinical examination and cardiorespiratory sleep (CRS) studies.Methods The Achondroplasia Foramen Magnum Score (AFMS) was developed and scores were retrospectively correlated with clinical and CRS data over a 3-year period.Results Of 36 infants (M:F, 18:18), 2 (5.6%) did not have FMS (AFMS0); 13 (36.1%) had FMS with preservation of the cerebrospinal fluid (CSF) spaces (AFMS1); 3 (8.3%) had FMS with loss of the CSF space but no spinal cord distortion (AFMS2); 13 (36.1%) had FMS with flattening of the cervical cord without signal change (AFMS3); and 5 (13.9%) had FMS resulting in cervical cord signal change (AFMS4). Mean Total Apnea and Hypopnea Index (TAHI) for AFMS0-4 was 3.4, 6.41, 2.97, 10.5 and 25.8, respectively. Severe TAHI had a specificity of 89% but only a 59% sensitivity for AFMS34. Neurological examination was normal in 34/36 (94%) patients. Overall, 9/36 (25%) infants required neurosurgery with minimal surgical complications.Conclusions Clinical examination and CRS have a low sensitivity for predicting the effects of foramen stenosis on the spinal cord. Routine screening with MRI using AFMS can aid in detecting early spinal cord changes and has the potential to reduce infant morbidity and mortality.