PDF(Pubmed)
Abstract：
Dandy-Walker malformation or syndrome is a rare congenital deformity in which the cerebellar vermis is hypoplastic and upwardly rotated, the fourth ventricle enlarged, and the posterior fossa cystically dilated. It represents the most common type of posterior fossa malformations that are usually diagnosed before the age of one year old. We present a seven-year-old boy with a history of neonatal hypotonia and delayed walking, who presented with speech and language difficulties. His physical examination and cognitive tests were unremarkable. The patient\'s brain magnetic resonance imaging showed a partial defect of the inferior part of the cerebellar vermis and communication between a normal-sized cisterna magna and the fourth ventricle. There were no other coexisting central nervous system or systemic anomalies. This isolated inferior vermian hypoplasia was compatible with an uncommon variant of the Dandy-Walker syndrome. The aim of this report is to provide insight into the importance of implementing a pediatrician-psychiatrist collaboration in the clinical decision-making process of such developmental delay cases. What makes the present case further interesting are the new-onset unprovoked seizures that developed and recurred in the setting of such isolated and less severe posterior fossa anomaly, raising both diagnostic and therapeutic challenges.
摘要：
Dandy-Walker畸形或综合征是一种罕见的先天性畸形，其中小脑疣发育不全并向上旋转，第四脑室扩大了，后颅窝膀胱扩张。它代表了通常在一岁之前诊断的最常见的后颅窝畸形类型。我们介绍了一个7岁的男孩，有新生儿张力减退和行走延迟的历史，表现出言语和语言障碍的人。他的身体检查和认知测试并不引人注目。患者的脑部磁共振成像显示小脑下部的部分缺陷以及正常大小的大脑池与第四脑室之间的连通。没有其他共存的中枢神经系统或全身异常。这种孤立的下位vermian发育不全与Dandy-Walker综合征的罕见变体兼容。本报告的目的是深入了解在此类发育迟缓病例的临床决策过程中实施儿科医生与精神病学家合作的重要性。使本案更加有趣的是，在这种孤立且不太严重的后颅窝异常的背景下，新发作的无缘无故的癫痫发作和复发，提出了诊断和治疗的挑战。
