Institute of Molecular Embryology and Genetics, Kumamoto University, Honjo, Kumamoto, 860-0811, Japan.
BMC Neurol. 2012 May 30;12:31. doi: 10.1186/1471-2377-12-31.
Kleine-Levin syndrome is a rare sleep disorder of unknown etiology. It is characterized by intermittent periods of excessive sleepiness, cognitive disturbances and behavioral abnormalities. Nine cases of familial Kleine-Levin syndrome have been identified, but there are no reported cases describing twins that are affected by the syndrome.
We report the cases of 16-year-old monozygotic twin boys who both suffered from Kleine-Levin syndrome. In both cases, the onset of the first episode was preceded by an influenza infection. During symptomatic periods they slept for the entire day except for meals and bathroom visits. Actimetry recordings revealed that during symptomatic periods, daily activity was lower than that of asymptomatic periods, on the other hand, activity during the night was significantly higher in symptomatic periods than asymptomatic periods. Polysomnography (PSG) data during symptomatic periods revealed a decrease in sleep efficiency. Human leukocyte antigen (HLA) typing revealed no DQB1*02 loci. They were administered lithium carbonate but the beneficial effect was limited.
Our observations suggest that Kleine-Levin syndrome may be due to genetic and autoimmune processes, although etiologic relationship to specific HLA type remains controversial.
克莱恩-莱文综合征是一种病因不明的罕见睡眠障碍。其特征是周期性发作的过度嗜睡、认知障碍和行为异常。已确定有 9 例家族性克莱恩-莱文综合征病例，但尚无报道描述受该综合征影响的双胞胎病例。
我们报告了一对 16 岁的同卵双胞胎男孩的病例，他们均患有克莱恩-莱文综合征。在这两种情况下，首次发作前均有流感感染。在症状发作期间，他们除了吃饭和上厕所外，整天都在睡觉。活动记录仪记录显示，在症状发作期间，日常活动明显低于无症状期，而在症状发作期间，夜间活动明显高于无症状期。症状发作期间的多导睡眠图 (PSG) 数据显示睡眠效率下降。人类白细胞抗原 (HLA) 分型未发现 DQB1*02 基因座。他们接受了碳酸锂治疗，但疗效有限。
我们的观察结果表明，克莱恩-莱文综合征可能是由于遗传和自身免疫过程引起的，尽管与特定 HLA 类型的病因关系仍存在争议。
