Department of Neurosurgery, Osaka University Graduate School of Medicine, Suita City, Osaka, Japan; Department of Neurosurgery, Osaka Rosai Hospital, Sakai City, Osaka, Japan.
Pediatr Neurol. 2013 Dec;49(6):474-6. doi: 10.1016/j.pediatrneurol.2013.07.013. Epub 2013 Sep 26.
Bobble-head doll syndrome is a rare and surgically treatable movement disorder characterized by up-and-down (yes-yes) head bobbing occurring at a rate of 2-3 Hz. Side-to-side (no-no) head bobbing is less frequently described. Bobble-head doll syndrome is usually associated with dilation of the third ventricle, but is rarely associated with posterior fossa disease.
We describe an infant with fetal hydrocephalus and an arachnoid cyst of the posterior fossa. Endoscopic fenestration of the arachnoid cyst was performed on postnatal day 12. A routine examination at 4 months indicated the infant showed "no-no" type head bobbing, but no other neurological disorder was observed. The third ventricle was dilated during the perioperative period, but not at 2-4 months. In contrast, cerebellar compression decreased gradually and persisted at 4 months.
Although few patients with bobble-head doll syndrome do not have third ventricle dilation, these patients typically show cerebellar dysfunction. Our findings support the hypothesis that cerebellar dysfunction is present in bobble-head doll syndrome when third ventricle dilation is absent.
玩偶头综合征是一种罕见的、可通过手术治疗的运动障碍，其特征是头部以 2-3Hz 的频率出现上下（是-是）摆动。侧向（否-否）摆动则较少见。玩偶头综合征通常与第三脑室扩张有关，但很少与后颅窝疾病有关。
我们描述了一例患有胎儿脑积水和后颅窝蛛网膜囊肿的婴儿。在出生后第 12 天行蛛网膜囊肿内镜开窗术。4 个月时的常规检查发现患儿出现“否-否”型头部摆动，但未观察到其他神经功能障碍。在围手术期第三脑室扩张，但在 2-4 个月时并未扩张。相反，小脑受压逐渐减轻并持续到 4 个月。
尽管少数玩偶头综合征患者没有第三脑室扩张，但这些患者通常表现出小脑功能障碍。我们的研究结果支持这样一种假设，即当第三脑室不扩张时，小脑功能障碍存在于玩偶头综合征中。
