Nakamura M, Yamagata T, Momoi M Y, Yamazaki T
Department of Pediatrics, Jichi Medical School, Tochigi, Japan.
Pediatr Neurol. 1998 Aug;19(2):148-50. doi: 10.1016/s0887-8994(98)00029-0.
A 16-year-old girl had fully manifested Coffin-Lowry syndrome and drop episodes. Her drop episodes were precipitated by sudden unexpected tactile or auditory stimuli associated with the electrostatic circumstances in her leg muscles immediately after the stimuli. Studies revealed that her drop episode symptom was an unusual type of startle response and that it may be associated with Coffin-Lowry syndrome.
一名16岁女孩患有完全表现型的科芬-洛里综合征及跌倒发作。她的跌倒发作是由突然意外的触觉或听觉刺激引发的,这些刺激与刺激后她腿部肌肉中的静电情况有关。研究表明,她的跌倒发作症状是一种不寻常的惊吓反应类型,且可能与科芬-洛里综合征有关。