Saitoh K, Kawamoto T, Ebina T, Tanaka T
No To Shinkei. 1978 Aug;30(8):875-9.
Two children of normal parents had "Dandy-Walker syndrome" (cystic dilatation of the 4th ventricle with incomplete development of the cerebeller vermis). Both cases were admitted to our hospital in neonatal period, because of apneic spell. Air study showed the enlargement of the 4th ventricle in both cases. One case (22 days after birth, male infant) was operated by occipital craniotomy, and cystic membrane of the roof of the 4th ventricle was removed. But his head was growing rapidly in size, which suggested hydrocephalus. He died of pneumonia at 70 days after V-P shunt operation. At autopsy, defect of the cerebellar vermis and tonsil, involving the enlargement of the 4th ventricle was found. Another case, younger sister of the previous one, was complicated by occipital meningocele, which did not communicated with ventricular system. Her occipital tumor was removed, and now, she is growing normally in body size, but does not react to the visual stimuli with considerable psychomotor retardation. In our cases, occlusion of the foramina Luschka and Magendie was not present. So, we have come to the conclusion that primary underdevelopment of the cerebellum is of major importance for understanding of the etiopathogenesis of this syndrome.
一对父母正常的孩子患有“丹迪-沃克综合征”（第四脑室囊性扩张，小脑蚓部发育不全）。两例患儿均因新生儿期呼吸暂停发作而入住我院。气脑造影显示两例患儿第四脑室均扩大。其中一例（出生后22天，男婴）接受了枕下开颅手术，切除了第四脑室顶部的囊性膜。但他的头部迅速增大，提示脑积水。他在脑室-腹腔分流手术后70天死于肺炎。尸检发现小脑蚓部和扁桃体缺损，伴有第四脑室扩大。另一例是前一例的妹妹，合并枕部脑膜膨出，与脑室系统不连通。她的枕部肿瘤被切除，现在她身体发育正常，但对视觉刺激无反应，伴有明显的精神运动发育迟缓。在我们的病例中，不存在路施卡孔和马让迪孔阻塞。因此，我们得出结论，小脑原发性发育不全对于理解该综合征的病因发病机制至关重要。
