发作性睡病伴异态睡眠1例报告

正发作性睡病(Narcolepsy)是一种睡眠障碍疾病,临床表现为睡眠-觉醒节律不稳定、发作性猝倒、睡瘫、入睡前或醒前幻觉~([1,2])。既往研究发现发作性睡病患者中快速眼球运动睡眠行为异常(REM sleep behavior disorder,RBD)发生率较高~([3]),治疗猝倒发作的药物也可引起或加重RBD,说明发作性睡病和RBD可能为共患病关系。我们报道1例我中心诊治的发作性睡病合并RBD及NREM期异态睡眠的患者,对     

发作性睡病的药物和行为心理治疗

自1975年在法国召开了第1次发作性睡病国际研讨会以来,对发作性睡病的研究已历时37载.发作性睡病通常被认为是一类终身性疾病[1-2],已证实发作性睡病伴猝倒发作型的特征性病理改变为下丘脑分泌素能神经元的选择性缺失[1].发作性睡病主要表现为白天反复发作无法遏制的睡眠、夜间睡眠不安、猝倒发作以及睡瘫、睡眠幻觉等.由于对发作性睡病长久以来一直存在严重误诊误治的现象,导致很多患者症状出现数年后才得以明确诊断和治疗.随着近年来临床上对本病的认识越来越清楚,发作性睡病患者的早期诊断有望实现.早期治疗对于帮助患者改善疾病症状、回归正常生活、减轻不良预后,具有十分重要的意义.     

儿童睡眠障碍的研究进展

睡眠障碍是儿童神经科常见的问题,可单独发生或伴随其他神经疾病发生。睡眠障碍对儿童在认知、情绪、社会发展和行为表现等多方面造成损害。但是,一直以来,神经科医师对儿童睡眠障碍的认识相对较少,也缺乏睡眠评估和诊治的能力。失眠是儿科最常见的睡眠障碍,慢性睡眠障碍导致患儿白天出现精神行为异常及认知功能障碍,睡眠日记是诊断失眠的有力工具,行为咨询是儿童失眠管理的基础,认知行为治疗是治疗失眠的有效方法。异态睡眠和发作性睡病可能被误诊为癫痫发作等其他神经科疾病,导致不能得到及时有效的生活管理,出现不适当的药物暴露。文章着重介绍儿童失眠、异态睡眠和发作性睡病相应的临床表现、病理生理、诊断、治疗及研究现状,以期帮助神经科医生在诊治存在睡眠障碍的儿童过程中,准确诊断、提高对睡眠症状的评估及干预水平,优化疾病管理,改善患儿的睡眠状况,缓解家庭压力及照顾者的负担。     

发作性睡病

发作性睡病(narcolepsy)是一种以日间难以抗拒的睡眠发作、猝倒、睡眠瘫痪及睡眠幻觉为主要特征的慢性神经系统疾病,长期困扰患者的身心健康,影响到生活的各方面,甚至可以导致职业能力丧失,提前退休,严重者可酿成意外危及生命。临床工作中对此病认识不足,容易误诊误治,早期发现、早期治疗十分必要。本文就发作性睡病的临床特征、诊断和治疗进展作一综述。     

32例儿童发作性睡病临床特征分析

目的 加强对儿童发作性睡病临床特征及诊断方法的认识. 方法 回顾性分析自2008年9月至2011年9月北京市儿童医院神经科和解放军总医院儿童医学中心收治的32例发作性睡病患儿资料,同时对相关文献进行回顾分析. 结果 32例发作性睡病患儿均有日间不可抗拒的入睡发作,26例(81.3％)存在猝倒发作,11例(34.4％)存在睡眠幻觉,仅2例(6.25％)存在睡眠瘫痪表现.患儿多以日间睡眠增多为起病症状,大多数患儿有夜间睡眠紊乱、易激惹的临床表现,性格改变、食欲及体重增加、青春期提前也是常见的临床症状.多次小睡睡眠潜伏期试验(MSLT)检查在患儿中阳性率较低,可能与患儿年龄小、病程短等因素有关. 结论 不可抗拒的入睡发作、猝倒发作是中国儿童发作性睡病典型的临床表现,结合多导睡眠图和MSLT可明确诊断.     

发作性睡病研究

正发作性睡病(narcolepsy)是1880年由格里诺(Gelineau)首创的一个术语,是一种慢性睡眠障碍,可分为两类:1型发作性睡病(NT1)和2型发作性睡病(NT2)。NT1的特征是白天过度嗜睡、猝倒、入睡前幻觉和睡眠瘫痪,其原因是下丘脑中产生食欲素(一种与觉醒相关的神经肽)的神经元显著减少。除了猝倒外,NT2与NT1表现出大部分相同的症状。此外,大约90%的小儿发作性睡病患者会有夜间睡眠紊乱,其特征是夜间反复觉醒导致睡眠碎片化和整体睡眠质量下降。发作性睡病的一系列症状对患者来说是一个极大的挑战,可能会对他们的身心健康产生负面影响~([1])。一、流行病学调查     

发作性睡病12例临床分析

目的探讨发作性睡病的临床特征、诊断方法及治疗。方法对12例发作性睡病患者的临床资料进行回顾性分析。结果12例患者临床表现为白日过度嗜睡12例,猝倒7例,入睡前幻觉4例。根据不同症状给予利他林、氟西汀等药物及行为治疗有效。结论发作性睡病主要表现为睡眠四联症,进行多次睡眠潜伏期试验可以明确诊断,药物及行为、心理治疗有效。     

发作性睡病并OSAHS(附1例报道及文献复习)

目的探讨发作性睡病并阻塞性睡眠呼吸暂停低通气综合征(obstructive sleep apnea hypopneasyndrome,OSAHS)的发病机制、临床特点及治疗。方法回顾性分析1例发作性睡病并OSAHS患者的临床表现、多导睡眠图及颅脑MRI检查,并复习相关文献。结果患者有白天过度睡眠、嗜睡猝倒发作、睡眠麻痹和睡眠幻觉,睡眠呼吸监测提示严重呼吸暂停低通气表现,颅脑MRI检查示脑内多发腔隙灶及蛛网膜囊肿。结论发作性睡病与OSAHS可能相互影响,两病共存并非罕见,应避免漏诊。     

发作性睡病

本文分析了发作性睡病为临床少见疾病,其主要临床特征为①发作性不可抗拒的睡眠;②猝倒类型为发作性突然肌张力丧失;②睡瘫症;④入睡性幻觉症或叫半醒状态现像;⑤同时伴有ERM相睡眠起始的脑电图特征.完全具备以上5条者更为少见,约为10％左右。大多病人为其中一项或两项。同时对发作机制从脑干网状系统的结构功能及神经递质方面加以探讨,对与之鉴别疾病做了初步分析。提出了部分治疗方法。     

发作性睡病的临床特征与多次睡眠潜伏期试验对照研究

目的:探讨多次睡眠潜伏期试验(MSLT)对发作性睡病的诊断价值。方法:总结3 6例发作性睡病患者的临床特征,并进行白天5次MSLT和整夜多导睡眠图(PSG)描记,分析平均睡眠潜伏期(sleeplatency ,SL)、睡眠初次出现REM (sleeponsetrapideyemovementperiods ,SOREMP)次数及夜间睡眠相关参数和3 4名正常对照组进行比较。结果:3 6例均有白日过度嗜睡(10 0 % ) ,2 5例伴猝倒(69.44 .% ) ,16例伴入睡前幻觉(4 4 .44 % ) ,8例伴睡眠瘫痪(2 2 .2 2 % ) ,7例典型的睡眠四联征(19.44 % )。白天5次MSLT显示:2 8例发作性睡病患者SL <5min +SOREMP≥2次(77.78% ) ,SL(4 .12±2 .0 4)缩短和SOREMP≥2 (3 .2 8±0 .67)次,与正常对照组相比有显著性差异(P <0 .0 1)。整夜PSG结果显示:发作性睡病组总睡眠时间(3 3 5 .82±3 4.0 9)min、REM潜伏期缩短(17.19±7.14 )min ,和正常对照组相比有显著性差异(P <0 .0 1)。结论:发作性睡病具有睡眠潜伏期缩短和REM睡眠提前的特征,MSLT对发作性睡病的诊断和鉴别诊断具有重要价值。     

Narcolepsy in children: a single-center clinical experience

Although the initial manifestations of narcolepsy in children may differ from those with adult onset, hypersomnia remains the most common presenting sign. This study aimed to (1) describe the clinical and polysomnographic features, and treatment outcomes, of a group of children with narcolepsy, and (2) describe other sleep disorders to be considered in the differential diagnosis of hypersomnia and which may coexist with narcolepsy. A retrospective review of 125 children referred in 1 year for hypersomnia revealed 20 patients (16%) with narcolepsy. Of these, only 15% exhibited cataplexy, 10% experienced hallucinations, and none manifested sleep paralysis. Eighty-five percent of children with narcolepsy had sleep-disordered breathing on polysomnography. Body mass indices of these children were higher than for healthy, age-matched controls subjects. Other polysomnography findings included periodic limb movements of sleep (25%) and parasomnias (5%). The multiple sleep latency test revealed a mean sleep latency of 6.14 minutes, with sleep-onset rapid eye movement periods (median, 2/5 naps). Treatment with modafinil and sodium oxybate provided optimal control of daytime sleepiness. Physicians should routinely screen for hypersomnia in children by obtaining a detailed history and, in appropriate situations, ordering polysomnographic testing to rule out narcolepsy and other causes of hypersomnia.     

Characterization of symptoms of sleep disorders in children with headache

To investigate the prevalence of sleep disorders and their symptoms in children with headaches, 64 patients in the outpatient clinics of the University of Chicago Department of Pediatric Neurology were interviewed. Investigated disorders included excessive daytime sleepiness, narcolepsy, insomnia, sleep apnea, restlessness, and parasomnias. Unlike previous studies, subjects were compared with matched control patients by age and sex. Both headache and nonheadache groups completed a 111-item questionnaire detailing sleep symptoms and behaviors. It was found that children with headaches have a significantly higher prevalence of excessive daytime sleepiness, narcolepsy, and insomnia than children without headaches (P < 0.005), which is consistent with prior literature. A similar result was obtained in examining only migraines. However, we did not find a significantly higher prevalence of symptoms of sleep apnea, restlessness, and parasomnias, which contradicts previous literature. Also, the effect of medications taken by headache patients as a confounding factor was insignificant. Overall, pediatricians may find it beneficial to ask about daytime sleepiness, narcolepsy, and insomnia when treating a headache patient.     

The use of sleep studies in neurological practice

In recent years, sleep medicine has become a rapidly advancing field filled with exciting new discoveries. Many sleep disorders are diagnosed by clinical history alone. Sleep disorders such as sleep apnea, narcolepsy, periodic limb movement disorder, parasomnias, and nocturnal seizures usually require evaluation in the sleep laboratory. Sleep studies are used for diagnostic purposes, to assess disease severity, and to evaluate treatment efficacy. Sleep testing should be tailored to answer the specific clinical question at hand. This article reviews the techniques most commonly performed in the sleep laboratory and their indications, interpretation, and limitations. These include the polysomnogram, the multiple sleep latency test, and the maintenance of wakefulness test. The accurate interpretation of these studies requires a comprehensive sleep and medical history.     

An update on sleep disorders

Sleep disorders are so common that approximately 38% of the general population complains about a current sleep problem and 52% complains about a current or past sleep problem. Psychiatric factors are prominent in virtually all sleep disorders, either as primary factors (insomnia and adult parasomnias) or as significant secondary consequences (sleep apnea and narcolepsy). The authors describe normal sleep; delineate the prevalence of sleep disorders, both those associated with psychiatric disturbance and those of organic etiology; and outline procedures for evaluation and treatment, which is multidimensional and comprises general measures, psychotherapy, and, when indicated, pharmacotherapy.     

Current Treatment of Selected Pediatric Sleep Disorders

While pediatric sleep disorders are relatively common, treatments are often not straightforward. There is often a paucity of gold standard studies and data available to guide clinicians, treatments may yield arguably incomplete results, interventions may require chronic use, and/ or involve multiple modalities including behavioral interventions that require high parental and family commitment. This review points out diagnostic differences compared to adults and focuses on current therapy for selected common pediatric sleep disorders including sleep disordered breathing/ obstructive sleep apnea, narcolepsy, and restless legs syndrome. Other common pediatric sleep disorders, such as insomnia and parasomnias, are not covered.     

Sleep disorders

Many pharmacologic and nonpharmacologic strategies are available to treat sleep disorders successfully. Conventional stimulants and the new stimulant modafinil have roles to play in the management of narcolepsy and idiopathic hypersomnia. Knowledge of the properties and clinical effects of these drugs allows adequate doses of medications to be used with the goal of attaining as maximal alertness as possible. A range of dopaminergic agents is available to treat restless legs syndrome; other medications such as opiates, benzodiazepines, and anticonvulsants can also be used. Successful use of the dopaminergic agents depends on an understanding of the phenomena of augmentation, rebound, and tolerance. Arousal parasomnias can be treated with behavioral methods such as hypnosis and drug therapy. Clonazepam provides relief of the symptoms in most patients with REM sleep behavior disorder.     

Diagnosing narcolepsy with cataplexy on history alone: challenging the International Classification of Sleep Disorders (ICSD‐2) criteria

Background and purpose: The second version of the International Classification of Sleep Disorders suggests narcolepsy with cataplexy can be diagnosed on history alone. Patients: Five patients with a history supportive of narcolepsy/cataplexy. Method: Case review following clinical investigation. Results: None of the five patients had a diagnosis of narcolepsy/cataplexy on the basis of objective testing using polysomnography (PSG) and multiple sleep latency testing (MSLT). Conclusion: PSG and MSLT should always be used in conjunction with a comprehensive history taken by an experienced sleep physician to support a diagnosis of narcolepsy with cataplexy and to exclude other conditions that may mimic narcolepsy.     

Narcolepsy presenting as schizophrenia: a literature review and two case reports

Schizophrenia is a psychiatric disorder that causes significant disability and morbidity. Narcolepsy is a disorder, less prevalent than schizophrenia, but a disorder in which symptoms overlap with schizophrenia. This overlap in symptoms can cause narcolepsy to be confused with schizophrenia. The differences and similarities between narcolepsy and schizophrenia are discussed in the context of two cases. The first case describes an adolescent and the second case describes a refractory case of narcolepsy that did not respond to stimulants. Both cases were previously diagnosed as schizophrenia and did not respond to trials of antipsychotics and other psychotropics. The patients were reevaluated and referred to sleep testing at our facility for clinical suspicion of narcolepsy. Both patients underwent polysomnography with subsequent multiple sleep latency testing. The sleep testing results and multiple sleep latency testing criteria for narcolepsy are also discussed. The patients were treated for narcolepsy resulting in remission of the psychotic symptoms with significant behavioral improvement. We recommend that psychiatrists consider narcolepsy in the differential diagnosis when faced with refractory psychosis.     

Narcolepsy: clinical features, new pathophysiologic insights, and future perspectives.

Narcolepsy is characterized by excessive daytime sleepiness and abnormal manifestations of rapid eye movement sleep such as cataplexy. The authors review the clinical features of narcolepsy, including epidemiology, symptoms, diagnosis, and treatment, in detail. Recent findings show that a loss of hypocretin-producing neurons lies at the root of the signs and symptoms of narcolepsy. The authors review the current state of knowledge on hypocretin anatomy, physiology, and function with special emphasis on the research regarding the hypocretin deficiency in narcolepsy, which may also explain associated features of the disorder, such as obesity. Lastly, they discuss some future perspectives for research into the pathophysiology of sleep/wake disorders, and the potential impact of the established hypocretin deficiency on the diagnosis and treatment of narcolepsy.     

HLA-DR2 and narcolepsy

Tissue typing was performed on 14 narcoleptics as defined by both strict sleep laboratory and clinical criteria. Six of these patients were blacks from North America, a race underrepresented in previous studies. All patients were HLA-DR2-antigen positive and had the same HLA-DR2 subtype. Clinical severity of disease was not correlated with HLA-DR2 heterozygosity or (putative) homozygosity. This study confirms that the extremely high association between HLA-DR2 and narcolepsy holds across comparisons of the three races studied to date when both clinical and sleep laboratory data are used. The presence or absence of HLA-DR2 in patients presenting with hypersomnolence may help support or exclude, respectively, a diagnosis of idiopathic narcolepsy.