Golden J A, Rorke L B, Bruce D A
University of Pennsylvania, School of Medicine, Philadelphia.
Pediatr Neurosci. 1987;13(1):38-44. doi: 10.1159/000120299.
This is a retrospective study of 28 infants and children with Dandy-Walker syndrome: 16 had a complete postmortem examination and 12 are currently being followed clinically. Eleven of sixteen in the first category had hydrocephalus; 10 of those 11 had other central nervous system malformations, and 6 also had visceral anomalies. Four of the five without hydrocephalus had complex cardiac malformations and other visceral anomalies whereas 1 died as a consequence of acute myelogenous leukemia. The 12 children still under surveillance manifest no clinical evidence of significant visceral or central nervous system malformation, although 1 has CT scan evidence of agenesis of the corpus callosum. The majority (9/12) of these children have normal intelligence although 40% have focal neurologic deficits or gait abnormalities and 60% have an abnormal EEG. Frequent association of other malformations and/or visceral anomalies in children with Dandy-Walker syndrome make it difficult to propose a unifying hypothesis relative to embryogenesis of the syndrome.
这是一项对28例患有丹迪-沃克综合征的婴幼儿及儿童的回顾性研究：16例进行了完整的尸检，12例目前正在接受临床随访。第一组的16例中有11例患有脑积水；这11例中的10例有其他中枢神经系统畸形，其中6例还伴有内脏异常。5例没有脑积水的患儿中有4例患有复杂的心脏畸形和其他内脏异常，而1例死于急性髓性白血病。12例仍在接受监测的患儿没有明显的内脏或中枢神经系统畸形的临床证据，尽管有1例CT扫描显示胼胝体发育不全。这些患儿中的大多数（9/12）智力正常，尽管40%有局灶性神经功能缺损或步态异常，60%脑电图异常。丹迪-沃克综合征患儿常伴有其他畸形和/或内脏异常，这使得很难就该综合征的胚胎发生提出一个统一的假说。
