Department of Biomedical and Neuromotor Sciences, University of Bologna, and IRCCS Istituto delle Scienze Neurologiche, AUSL di Bologna, Bologna, Italy.
J Clin Sleep Med. 2013 Jun 15;9(6):611-2. doi: 10.5664/jcsm.2764.
We report on two sisters, 17 and 12 years of age, with clinical features suggesting narcolepsy with cataplexy (NC): daytime sleepiness, spontaneous and emotionally triggered sudden falls to the ground, and overweight/obesity. MSLT showed borderline sleep latency, with 1 and 0 sleep onset REM periods. HLA typing disclosed the DQB1*0602 allele. Video-polygraphy of the spells ruled out NC diagnosis by demonstrating their easy elicitation by suggestion, with wake EEG, electromyographic persistence of muscle tone, and stable presence of tendon reflexes (i.e., pseudo-cataplexy), together with normal cerebrospinal hypocretin-1 levels. Our cases emphasize the need of a clear depiction of cataplexy pattern at the different ages, the usefulness of examining ictal neurophysiology, and collecting all available disease markers in ambiguous cases.
我们报告了两姐妹的病例，年龄分别为 17 岁和 12 岁，具有嗜睡症伴猝倒（NC）的临床特征：白天嗜睡、自发性和情绪触发的突然倒地以及超重/肥胖。MSLT 显示睡眠潜伏期临界值，有 1 个和 0 个睡眠起始 REM 期。HLA 分型显示 DQB1*0602 等位基因。发作的视频多导睡眠描记术通过以下方式排除了 NC 诊断：通过暗示容易诱发，清醒脑电图、肌肉张力的肌电图持续存在，以及稳定存在腱反射（即假性猝倒），同时伴有正常的脑脊液食欲素-1 水平。我们的病例强调需要在不同年龄清楚地描述猝倒模式，检查发作时神经生理学和在不明确的情况下收集所有可用的疾病标志物的重要性。
