Sorbonne Université, Paris, France; Centre de Référence des narcolepsies et hypersomnies rares, Service des pathologies du sommeil, Hôpital Pitié-Salpêtrière, AP-HP Sorbonne Université, Paris, France; Institut du Cerveau (ICM), Paris Brain Institute, Paris, France.
Centre de Référence des narcolepsies et hypersomnies rares, Service des pathologies du sommeil, Hôpital Pitié-Salpêtrière, AP-HP Sorbonne Université, Paris, France; Institut du Cerveau (ICM), Paris Brain Institute, Paris, France.
Rev Neurol (Paris). 2023 Oct;179(7):741-754. doi: 10.1016/j.neurol.2023.08.010. Epub 2023 Sep 6.
Idiopathic hypersomnia (IH) and Kleine-Levin syndrome (KLS) are rare disorders of central hypersomnolence of unknown cause, affecting young people. However, increased sleep time and excessive daytime sleepiness (EDS) occur daily for years in IH, whereas they occur as relapsing/remitting episodes associated with cognitive and behavioural disturbances in KLS. Idiopathic hypersomnia is characterized by EDS, prolonged, unrefreshing sleep at night and during naps, and frequent morning sleep inertia, but rare sleep attacks, no cataplexy and sleep onset in REM periods as in narcolepsy. The diagnosis requires: (i) ruling out common causes of hypersomnolence, including mostly sleep apnea, insufficient sleep syndrome, psychiatric hypersomnia and narcolepsy; and (ii) obtaining objective EDS measures (mean latency at the multiple sleep latency test≤8min) or increased sleep time (sleep time>11h during a 18-24h bed rest). Treatment is similar to narcolepsy (except for preventive naps), including adapted work schedules, and off label use (after agreement from reference/competence centres) of modafinil, sodium oxybate, pitolisant, methylphenidate and solriamfetol. The diagnosis of KLS requires: (i) a reliable history of distinct episodes of one to several weeks; (ii) episodes contain severe hypersomnia (sleep>15h/d) associated with cognitive impairment (mental confusion and slowness, amnesia), derealisation, major apathy or disinhibited behaviour (hypersexuality, megaphagia, rudeness); and (iii) return to baseline sleep, cognition, behaviour and mood after episodes. EEG may contain slow rhythms during episodes, and rules out epilepsy. Functional brain imaging indicates hypoactivity of posterior associative cortex and hippocampus during symptomatic and asymptomatic periods. KLS attenuates with time when starting during teenage, including less frequent and less severe episodes. Adequate sleep habits, avoidance of alcohol and infections, as well as lithium and sometimes valproate (off label, after agreement from reference centres) help reducing the frequency and severity of episodes, and IV methylprednisolone helps reducing long (>30d) episode duration.
特发性嗜睡症（IH）和 Kleine-Levin 综合征（KLS）是两种罕见的中枢性嗜睡症，病因不明，影响年轻人。然而，IH 患者的睡眠时间增加和白天过度嗜睡（EDS）会持续多年，而 KLS 患者则会出现反复发作/缓解的认知和行为障碍相关的 EDS。特发性嗜睡症的特点是 EDS、夜间和白天小睡时延长且无恢复感、频繁的晨间睡眠惯性，但罕见发作性睡病样睡眠发作、无猝倒和 REM 期睡眠起始。诊断需要：（i）排除常见的嗜睡原因，包括主要的睡眠呼吸暂停、睡眠不足综合征、精神性嗜睡和发作性睡病；（ii）获得客观的 EDS 测量（多次睡眠潜伏期试验的平均潜伏期≤8 分钟）或增加睡眠时间（18-24 小时卧床休息期间睡眠时间>11 小时）。治疗类似于发作性睡病（除了预防性小睡），包括调整工作时间表和使用莫达非尼、羟丁酸钠、吡咯烷酮、哌甲酯和索里昂等药物（在参考/专业中心同意后）。KLS 的诊断需要：（i）有明确的一周至数周的发作病史；（ii）发作期间存在严重的嗜睡（睡眠>15 小时/天），伴有认知障碍（精神混乱和迟钝、健忘、现实感丧失）、严重冷漠或行为抑制（性欲亢进、暴食、粗鲁）；（iii）发作后恢复到基线睡眠、认知、行为和情绪。发作期间脑电图可能显示慢节律，并排除癫痫。功能性脑成像显示症状期和无症状期后扣带回和海马区的活动减少。KLS 随着时间的推移而减轻，尤其是在青少年期开始时，发作的频率和严重程度会降低。适当的睡眠习惯、避免酒精和感染、锂治疗有时丙戊酸治疗（在参考中心同意后）有助于减少发作的频率和严重程度，静脉注射甲基强的松龙有助于缩短（>30 天）长发作持续时间。
