From the Division of Neuroradiology (C.A.P.F.A., A.M., S.R.T., S.A., M.T.W.), Department of Radiology, Children's Hospital of Philadelphia, Philadephia, Pennsylvania
Unit of Neuroradiology (J.S., S.S., K.M.), Great Ormond Street Hospital for Children, National Health Service Foundation Trust, London, United Kingdom.
AJNR Am J Neuroradiol. 2023 Oct;44(10):1201-1207. doi: 10.3174/ajnr.A7967. Epub 2023 Aug 17.
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.
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，但这些患者中存在大量未报告的畸形。特别是脑干，值得仔细关注，因为该区域的畸形可能对临床结果有重要影响。在本文中，我们提供了大量多中心队列患者中脑干发育不良与 Dandy-Walker 表型的关联的详细信息，定义了不同类型的参与及其潜在的临床影响。
在这个由 329 例 Dandy-Walker 表型患者组成的既定多中心队列中，我们纳入并回顾性分析了 73 例伴有额外脑干畸形的患者的 MRI 研究和临床记录。对不同类型的脑干受累模式及其潜在的临床意义进行了详细评估，并对不同组别的患者进行了后颅窝测量以诊断 Dandy-Walker 表型，对其进行了比较。
Dandy-Walker 表型患者的脑干受累有 2 种主要形式，包括以下内容：1）脑干结构的轻度前后比例失调“仅”（57/73；78%），最常见的是桥脑发育不良（44/57；77%），2）严重型伴有脑干背侧褶皱、结节和/或裂沟的神经胶质发育不良（16/73；22%）。严重型脑干畸形患者的巨脑室增大、胼胝体和灰质的额外畸形以及大脑半球间囊肿的发生率显著增加。临床方面，严重型患者的球部功能障碍、癫痫发作和死亡率明显升高。
Dandy-Walker 表型患者的额外脑干畸形可分为 2 个主要亚组：轻度和重度。尽管较少见，但重度形式具有特征性的影像学特征，包括脑干背侧褶皱、结节和裂沟，并且与更严重的临床表现和更高的死亡率直接相关。
