Division of Pediatric Neurology, Department of Pediatrics, Neurology/Neurosurgery, Montreal Children's Hospital, McGill University Health Center, Montreal, Canada.
IRCCS Istituto Giannina Gaslini, Genova, Italy.
Dev Med Child Neurol. 2019 Mar;61(3):350-358. doi: 10.1111/dmcn.14059. Epub 2018 Oct 15.
Neurodevelopmental outcomes in children with congenital cerebellar malformations (CCMs) remain poorly defined. We aimed to assess whether specific neuroimaging features in CCM patients correlate with neurodevelopmental outcomes.
Hospital records and neuroimaging of 67 children with CCMs were systematically reviewed. Logistic regression analyses were used to assess associations between specific imaging features and neurodevelopmental outcomes.
CCM categories were distributed as follows: 28 percent isolated vermis hypoplasia (n=19), 28 percent global cerebellar hypoplasia (n=19), 15 percent Dandy-Walker malformation (n=10), 13 percent pontocerebellar hypoplasia (PCH, n=9), 9 percent molar tooth malformation (n=6), 3 percent rhombencephalosynapsis (n=2), and 3 percent unilateral cerebellar malformation (n=2). Overall, 85 percent (55/65) of the cohort had global developmental delay (GDD). Intellectual disability was present in 61 percent (27/43) and autism spectrum disorder (ASD) in 12 percent (6/52). Adjusting for supratentorial malformations and presence of genetic findings, severe GDD was associated with cerebellar hypoplasia (p=0.049) and PCH (p=0.030), whereas children with vermis hypoplasia were less likely to have severe GDD (p=0.003). Presence of supratentorial abnormalities was not significantly associated with worse neurodevelopmental outcome but was associated with epilepsy.
Children with CCMs have high prevalence of neurodevelopmental deficits. Specific features on imaging can aid prognostication and establish early intervention strategies.
Atypical long-term neurodevelopmental outcome is very common in patients with congenital cerebellar malformations (CCMs). Involvement of the brainstem and cerebellar hemispheres predicts more severe neurodevelopmental disability. Most patients with vermis hypoplasia have language delay but are verbal. Supratentorial abnormalities are not significantly associated with worse neurodevelopmental outcome but are associated with epilepsy. Comorbidities are common in CCMs, especially ophthalmological issues in cerebellar hypoplasia and sensorineural hearing loss in pontocerebellar hypoplasia.
先天性小脑畸形（CCM）患儿的神经发育结果仍定义不清。本研究旨在评估 CCM 患者的特定神经影像学特征是否与神经发育结果相关。
系统回顾了 67 例 CCM 患儿的医院记录和神经影像学资料。采用逻辑回归分析评估特定影像学特征与神经发育结果之间的关联。
CCM 分类为：28%孤立性蚓部发育不全（n=19），28%全小脑发育不全（n=19），15% Dandy-Walker 畸形（n=10），13%桥脑小脑发育不全（PCH，n=9），9%磨牙齿畸形（n=6），3%菱形脑回融合（n=2），3%单侧小脑畸形（n=2）。总体而言，85%（65/75）的患儿存在全面发育迟缓（GDD）。61%（27/43）的患儿存在智力障碍，12%（6/52）的患儿存在自闭症谱系障碍（ASD）。在调整了幕上畸形和遗传发现的情况下，严重 GDD 与小脑发育不全（p=0.049）和 PCH（p=0.030）相关，而蚓部发育不全的患儿发生严重 GDD 的可能性较小（p=0.003）。幕上异常的存在与神经发育不良的结果无显著相关性，但与癫痫有关。
CCM 患儿神经发育缺陷的发生率较高。影像学上的特定特征有助于预测预后并制定早期干预策略。
先天性小脑畸形（CCM）患者的长期神经发育不良结果非常常见。脑干和小脑半球受累提示更严重的神经发育障碍。大多数蚓部发育不全的患儿存在语言发育迟缓，但可以说话。幕上异常与神经发育不良的结果无显著相关性，但与癫痫有关。CCM 常合并多种疾病，尤其是小脑发育不全时的眼科问题和 PCH 时的感觉神经性听力损失。
