Peterson Paul C, Husain Aatif M
Department of Medicine (Neurology), Duke University Medical Center, 202 Bell Building, Box 3678, Durham, NC 27710, USA.
Brain Dev. 2008 Nov;30(10):609-23. doi: 10.1016/j.braindev.2008.02.004. Epub 2008 Mar 28.
Narcolepsy is a disabling disease with a prevalence of 0.05%. It is characterized by excessive daytime sleepiness, cataplexy, sleep paralysis, hypnogogic hallucinations, automatic behavior, and disrupted nocturnal sleep. The presentation can be very variable, making diagnosis difficult. Loss of hypocretin containing neurons in the lateral hypothalamus has been noted in autopsy studies, and the cerebrospinal fluid level of hypocretin is reduced in patients with narcolepsy with cataplexy. New treatment options are available for the many symptoms of this disease. Early recognition and treatment can greatly improve the quality of life of patients with narcolepsy. A detail review of the epidemiology, pathophysiology, and management of narcolepsy in children is presented.
发作性睡病是一种患病率为0.05%的致残性疾病。其特征为日间过度嗜睡、猝倒、睡眠瘫痪、入睡前幻觉、自动行为以及夜间睡眠紊乱。临床表现差异很大,诊断困难。尸检研究发现下丘脑外侧含下丘脑泌素的神经元缺失,伴猝倒的发作性睡病患者脑脊液中的下丘脑泌素水平降低。针对该疾病的多种症状有了新的治疗选择。早期识别和治疗可大大提高发作性睡病患者的生活质量。本文对儿童发作性睡病的流行病学、病理生理学及治疗进行了详细综述。