发作性强直性向上凝视并发天使综合征。
Paroxysmal tonic upward gaze complicating Angelman syndrome.
作者信息
Fukumura Shinobu, Watanabe Toshihide, Takayama Rumiko, Tsutsumi Hiroyuki
机构信息
Department of Child Neurology, Hokkaido Medical Center for Child Health and Rehabilitation, Sapporo, Japan; Department of Pediatrics, School of Medicine, Sapporo Medical University, Sapporo, Japan.
Department of Child Neurology, Hokkaido Medical Center for Child Health and Rehabilitation, Sapporo, Japan; Department of Pediatrics, School of Medicine, Sapporo Medical University, Sapporo, Japan.
出版信息
Pediatr Neurol. 2015 Jan;52(1):125-7. doi: 10.1016/j.pediatrneurol.2014.08.022. Epub 2014 Sep 4.
BACKGROUND
Paroxysmal tonic upward gaze is a childhood oculomotor syndrome characterized by episodes of conjugate upward deviation of the eyes. Its pathogenesis is unknown, and the etiology is heterogeneous.
PATIENT DESCRIPTION
We describe a 2-year-old girl with Angelman syndrome who developed paroxysmal tonic upward gaze at 9 months of age. She presented with developmental delay, blond hair, jerky movements, ataxia, and epilepsy. Genetic testing revealed a maternal deletion of 15q11-13, confirming Angelman syndrome.
CONCLUSIONS
This is the first report of Angelman syndrome complicated by paroxysmal tonic upward gaze. Both transient paroxysmal tonic upward gaze and Angelman syndrome have been associated with dopaminergic neurons. We speculate that the dopaminergic abnormalities present in Angelman syndrome may cause paroxysmal tonic upward gaze.
背景
阵发性强直性上视是一种儿童期动眼综合征，其特征为双眼共轭性向上偏斜发作。其发病机制不明，病因多样。
患者描述
我们报告一名患有天使综合征的2岁女孩，她在9个月大时出现阵发性强直性上视。她表现出发育迟缓、金发、抽搐动作、共济失调和癫痫。基因检测显示15q11 - 13区域的母源缺失，确诊为天使综合征。
结论
这是首例天使综合征并发阵发性强直性上视的报告。短暂性阵发性强直性上视和天使综合征均与多巴胺能神经元有关。我们推测天使综合征中存在的多巴胺能异常可能导致阵发性强直性上视。
Zotero 插件