BACKGROUND Children with syndromic craniosynostosis (sCS) have a higher incidence of cerebellar tonsillar herniation (TH) than the general population. In the general population, TH ≥ 5 mm below the foramen magnum is associated with typical neurological deficits but, in sCS, we do not know whether this degree of TH is required before such deficits occur. OBJECTIVE This prospective cohort study aimed to determine the association between findings on neurological assessment and cerebellar tonsillar position. METHODS Magnetic resonance imaging (MRI) was used to determine TH ≥ 5 mm and the presence of syringomyelia. In regard to the outcome of neurological deficits, these were categorized according to: A, cerebellar function; B, cranial nerve abnormalities; and C, sensory or motor dysfunction. RESULTS Twenty of 63 patients with sCS (32% [95% confidence interval 21-45%]) had TH ≥ 5 mm and/or syringomyelia. There was no significant difference in proportion between individual forms of sCS: 16/34 Crouzon, 2/11 Muenke, 2/12 Apert, and 0/7 Saethre-Chotzen patients. Neurological deficits were prevalent (73% [95% confidence interval 60-83%]), and as frequent in patients with TH ≥ 5 mm and/or syringomyelia as those without. Surgery occurred in 3 patients overall, and only in Crouzon patients. CONCLUSION Determining the effect of TH ≥ 5 mm on neurologic functioning in sCS patients is used to better determine when surgical intervention is warranted. However, we have found that neurological deficits are prevalent in sCS patients, irrespective of cerebellar tonsillar position, suggesting that such findings are developmental and, in part, syndrome-specific central nervous system features.

中文翻译：

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伴或不伴扁桃体疝的综合征性颅缝早闭患者均存在神经功能缺损

背景 患有综合征性颅缝早闭 (sCS) 的儿童比一般人群具有更高的小脑扁桃体疝 (TH) 发生率。在一般人群中，枕骨大孔下方 TH ≥ 5 mm 与典型的神经功能缺损有关，但在 sCS 中，我们不知道在出现此类功能缺损之前是否需要这种程度的 TH。目的 本前瞻性队列研究旨在确定神经学评估结果与小脑扁桃体位置之间的关联。方法 磁共振成像 (MRI) 用于确定 TH ≥ 5 mm 和脊髓空洞症的存在。关于神经功能缺损的结果，根据以下分类：A，小脑功能；B、颅神经异常；C，感觉或运动功能障碍。结果 63 名 sCS 患者中有 20 名（32% [95% 置信区间 21-45%]）TH ≥ 5 mm 和/或脊髓空洞症。sCS 的个体形式之间的比例没有显着差异：16/34 Crouzon、2/11 Muenke、2/12 Apert 和 0/7 Saethre-Chotzen 患者。神经功能缺损普遍存在（73% [95% 置信区间 60-83%]），并且在 TH ≥ 5 mm 和/或脊髓空洞症患者中与没有患者一样常见。总共有 3 名患者接受了手术，并且仅发生在 Crouzon 患者中。结论 确定 TH ≥ 5 mm 对 sCS 患者神经功能的影响可用于更好地确定何时需要手术干预。然而，我们发现无论小脑扁桃体位置如何，sCS 患者普遍存在神经功能缺损，这表明这些发现是发育性的，部分原因是