Division of Neonatology, Department of Pediatrics, Faculty of Medicine, Erciyes University, 38039 Kayseri, Turkey.
Pediatr Neurol. 2010 Dec;43(6):439-41. doi: 10.1016/j.pediatrneurol.2010.06.006.
Dandy-Walker malformation is characterized by cystic dilatation of the fourth ventricle and an enlarged posterior cranial fossa with upward displacement of the tentorium, lateral sinuses, and torcular, with agenesis or hypoplasia of the cerebellar vermis. Dandy-Walker malformation occurs in approximately the 4th week of gestation and is associated with various abnormalities involving the cardiac, skeletal, genitourinary, and gastrointestinal systems. The parathyroid gland also forms in the 3rd and 4th gestational weeks. Reported here is the case of a male infant with Dandy-Walker malformation with ventricular and atrial septal defect, unilateral renal agenesis, and hypoparathyroidism. To our knowledge, this rare association with neural crest events during the development of Dandy-Walker malformation has not been reported previously.
Dandy-Walker 畸形的特征为第四脑室囊性扩张和颅后窝扩大，天幕向上移位，横窦和窦汇向上移位，小脑蚓部发育不全或发育不良。Dandy-Walker 畸形发生在妊娠第 4 周左右，与涉及心脏、骨骼、泌尿生殖和胃肠道系统的各种异常有关。甲状旁腺也在第 3 和第 4 孕周形成。本文报道了一例男性婴儿患有 Dandy-Walker 畸形，合并室间隔和房间隔缺损、单侧肾发育不全和甲状旁腺功能减退。据我们所知，这种在 Dandy-Walker 畸形发育过程中与神经嵴事件相关的罕见关联以前尚未有报道。
