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Abstract：
Although cardinal imaging features for the diagnostic criteria of the Dandy-Walker phenotype have been recently defined, there is a large range of unreported malformations among these patients. The brainstem, in particular, deserves careful attention because malformations in this region have potentially important implications for clinical outcomes. In this article, we offer detailed information on the association of brainstem dysgenesis in a large, multicentric cohort of patients with the Dandy-Walker phenotype, defining different subtypes of involvement and their potential clinical impact.
In this established multicenter cohort of 329 patients with the Dandy-Walker phenotype, we include and retrospectively review the MR imaging studies and clinical records of 73 subjects with additional brainstem malformations. Detailed evaluation of the different patterns of brainstem involvement and their potential clinical implications, along with comparisons between posterior fossa measurements for the diagnosis of the Dandy-Walker phenotype, was performed among the different subgroups of patients with brainstem involvement.
There were 2 major forms of brainstem involvement in patients with Dandy-Walker phenotype including the following: 1) the mild form with anteroposterior disproportions of the brainstem structures \"only\" (57/73; 78%), most frequently with pontine hypoplasia (44/57; 77%), and 2) the severe form with patients with tegmental dysplasia with folding, bumps, and/or clefts (16/73; 22%). Patients with severe forms of brainstem malformation had significantly increased rates of massive ventriculomegaly, additional malformations involving the corpus callosum and gray matter, and interhemispheric cysts. Clinically, patients with the severe form had significantly increased rates of bulbar dysfunction, seizures, and mortality.
Additional brainstem malformations in patients with the Dandy-Walker phenotype can be divided into 2 major subgroups: mild and severe. The severe form, though less prevalent, has characteristic imaging features, including tegmental folding, bumps, and clefts, and is directly associated with a more severe clinical presentation and increased mortality.
In this established multicenter cohort of 329 patients with the Dandy-Walker phenotype, we include and retrospectively review the MR imaging studies and clinical records of 73 subjects with additional brainstem malformations. Detailed evaluation of the different patterns of brainstem involvement and their potential clinical implications, along with comparisons between posterior fossa measurements for the diagnosis of the Dandy-Walker phenotype, was performed among the different subgroups of patients with brainstem involvement.
There were 2 major forms of brainstem involvement in patients with Dandy-Walker phenotype including the following: 1) the mild form with anteroposterior disproportions of the brainstem structures \"only\" (57/73; 78%), most frequently with pontine hypoplasia (44/57; 77%), and 2) the severe form with patients with tegmental dysplasia with folding, bumps, and/or clefts (16/73; 22%). Patients with severe forms of brainstem malformation had significantly increased rates of massive ventriculomegaly, additional malformations involving the corpus callosum and gray matter, and interhemispheric cysts. Clinically, patients with the severe form had significantly increased rates of bulbar dysfunction, seizures, and mortality.
Additional brainstem malformations in patients with the Dandy-Walker phenotype can be divided into 2 major subgroups: mild and severe. The severe form, though less prevalent, has characteristic imaging features, including tegmental folding, bumps, and clefts, and is directly associated with a more severe clinical presentation and increased mortality.
摘要：
目的：尽管Dandy-Walker表型的诊断标准的主要影像学特征最近已被定义，这些患者中有大量未报告的畸形。脑干，特别是,值得关注,因为该区域的畸形对临床结局有潜在的重要影响.在这篇文章中,我们提供了大量脑干发育不全的关联的详细信息，Dandy-Walker表型患者的多中心队列，定义不同的参与亚型及其潜在的临床影响。
方法：在这个由329名Dandy-Walker表型患者组成的多中心队列中，我们纳入并回顾性回顾了73例其他脑干畸形患者的MR成像研究和临床记录.详细评估脑干受累的不同模式及其潜在的临床意义，以及用于诊断Dandy-Walker表型的后颅窝测量值之间的比较，在脑干受累患者的不同亚组中进行。
结果：Dandy-Walker表型患者有两种主要形式的脑干受累，包括以下：1）轻度形式的脑干结构“仅”（57/73;78％），最常见的是脑桥发育不全（44/57;77％），2)被盖发育不良患者的严重形式与折叠，颠簸,和/或裂缝（16/73；22%）。患有严重形式的脑干畸形的患者脑室肥大的发生率显着增加，涉及call体和灰质的其他畸形，和半球间囊肿.临床上,严重形式的患者球功能障碍的发生率显着增加，癫痫发作,和死亡率。
结论：Dandy-Walker表型患者的脑干畸形可分为2个主要亚组：轻度和重度。严重的形式，虽然不那么普遍，具有特征性的成像特征，包括被盖折叠，颠簸,和裂缝，并且与更严重的临床表现和死亡率增加直接相关。
方法：在这个由329名Dandy-Walker表型患者组成的多中心队列中，我们纳入并回顾性回顾了73例其他脑干畸形患者的MR成像研究和临床记录.详细评估脑干受累的不同模式及其潜在的临床意义，以及用于诊断Dandy-Walker表型的后颅窝测量值之间的比较，在脑干受累患者的不同亚组中进行。
结果：Dandy-Walker表型患者有两种主要形式的脑干受累，包括以下：1）轻度形式的脑干结构“仅”（57/73;78％），最常见的是脑桥发育不全（44/57;77％），2)被盖发育不良患者的严重形式与折叠，颠簸,和/或裂缝（16/73；22%）。患有严重形式的脑干畸形的患者脑室肥大的发生率显着增加，涉及call体和灰质的其他畸形，和半球间囊肿.临床上,严重形式的患者球功能障碍的发生率显着增加，癫痫发作,和死亡率。
结论：Dandy-Walker表型患者的脑干畸形可分为2个主要亚组：轻度和重度。严重的形式，虽然不那么普遍，具有特征性的成像特征，包括被盖折叠，颠簸,和裂缝，并且与更严重的临床表现和死亡率增加直接相关。
