Department of Clinical and Experimental Medicine, University of Catania Postgraduate Training Program in Pediatrics, Catania, Italy.
Department of Radiology, University of Catania Postgraduate Training Program in Radiology, Catania, Italy.
Acta Neurol Belg. 2023 Jun;123(3):903-909. doi: 10.1007/s13760-022-02059-z. Epub 2022 Sep 6.
To investigate the clinical characteristics, the neuroimaging features and associated anomalies observed in children affected by Dandy-Walker malformations (DWM) and variants (DWV) in a single tertiary hospital in Catania and compare our data to their existent in the literature.
A retrospective case series using the medical records has been performed on 28 children diagnosed with DWM and DWV admitted to a single tertiary section of Pediatric Neurology, Department of Catania, Italy from January 2005 to January 2021. We reviewed the neuroimaging using the new diagnostic criteria of Klein et al. RESULTS: Associated anomalies were frequently reported. Among these, hydrocephalus was found in 13/28 (48%), and hydrocephalus plus corpus callosum anomalies in three children (10%). We described corpus callosum, cardiac and genitourinary anomalies in 2/28 (7%), 3/28 (10%), and 3/28 (10%), respectively. The most common clinical features were the developmental delay and epilepsy observed in 19/28 (67%) and in 9/28 (32%) of the cases. The first exam at the diagnosis was MRI in 17/28 patients, followed by transfontanellar ultrasound in 5/28, computed tomography in 4/28 and prenatal ultrasound in 2/28. To note, a child with DWM was affected by Down syndrome and one by congenital disorders of N-linked glycosylation (CDG-IId).
Children with DWV were more commonly observed than children with DWM. Hydrocephalus is an anomaly, frequently and equally reported in both DWM and DMV. Perinatal complications were frequent adverse events with severe respiratory distress and need for cardiopulmonary resuscitation. Cognitive involvement and epilepsy were the most common comorbidities. Single DWV is associated with a better developmental outcome.
研究在卡塔尼亚的一家三级医院中患有 Dandy-Walker 畸形（DWM）和变异型（DWV）的儿童的临床特征、神经影像学特征及相关异常，并将我们的数据与文献中的数据进行比较。
对 2005 年 1 月至 2021 年 1 月期间在意大利卡塔尼亚的儿科神经病学的一个三级科室就诊的 28 名 DWM 和 DWV 患儿的病历进行回顾性病例系列研究。我们使用 Klein 等人的新诊断标准对神经影像学进行了回顾。
常报告存在相关异常。其中，13/28（48%）例存在脑积水，3 例（10%）例脑积水合并胼胝体异常。我们分别在 2/28（7%）、3/28（10%）和 3/28（10%）例患儿中描述了胼胝体、心脏和泌尿生殖系统异常。最常见的临床特征是 19/28（67%）例患儿存在发育迟缓，9/28（32%）例患儿存在癫痫。28 例患儿中，17 例的首次诊断检查为 MRI，5 例为经前囟超声检查，4 例为 CT 检查，2 例为产前超声检查。值得注意的是，1 例 DWM 患儿患有唐氏综合征，1 例患有先天性 N-连接糖基化缺陷（CDG-IId）。
DWV 患儿比 DWM 患儿更常见。脑积水是 DWM 和 DWV 均常报告的异常。围产期并发症是常见的不良事件，患儿有严重的呼吸窘迫和心肺复苏需求。认知障碍和癫痫是最常见的合并症。单纯 DWV 与更好的发育结局相关。
