发作性睡病

<正>发作性睡病少见,而且容易误诊。自1998年8月至2003年11月,我科诊治11例,报道如下。 临床资料 1.一般资料 男性8例,女性3例,发病年龄15~20岁6例,21~30岁4例,38岁1例:病程:0.5~2年8例,3年以上3例。 2.主要临床表现,本组所有病例均表现为不可抗拒的睡     

发作性睡病1例报告

发作性睡病同时合并四组症状者少见,今将所见1例报告如下: 患者张××,男,57岁,已婚,初中文化,部队干部。性格内向、无不良嗜好。既往无头部外伤及癫痫病史,无特殊病家族史。患者于1973年3月无明显原因出现发作性不能克制的嗜睡,每次约5～10分钟,每日3～5次。发作时突感全身无力而倒地鼾睡,与普通睡眠无异。一般刺激不能使其觉醒,醒后如常人,对发作过程能清楚回忆。发作前不头疼,无抑郁心境体验,夜间     

发作性睡病误诊为精神分裂症一例

患者男，15岁。7岁起经常叹气，感到胸闷，并因此挨父亲打，以纠正这种“坏习惯”。后逐渐在激动兴奋时出现膝盖发软，站不住；常有不可抑制的发作性睡眠，且无论是在校上课或在家看电视，甚至在骑车时也睡，以致摔倒。每次睡3～20min，每天睡眠发作10多次。睡眠时心里清楚，能听到周围人讲话，但不能动。晚上半睡中隐约听到床下有声音，门外有脚步声、敲门声，醒来后感到非常逼真、紧张，称有人要杀他，但白天未听到这些声音，也未对周围人产生怀疑。     

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4例报告

发作性睡病不多见,现将近期门诊4例病例报道如下: 例1 刘金芝,女20岁,未婚,农民,门诊号24940。因发作性多睡3年于2月19日初次来诊。患者从17岁起无明原因的出现多睡,不能自控,每次发作10几分钟到3小时不等,春季发作频繁时每日可达10几次。睡眼中叫之能醒,醒后又睡。不分时间地点,有时在麦场及坡地里倒地就睡。不让睡称全身无力,心烦不安,每次发作前有脑子不     

长期饮酒诱发发作性睡病一例(英文)

Narcolepsy is a chronic neurological disorder,characterized by uncontrollable excessive daytime sleepiness,cataplectic episodes,sleep paralysis,hypnagogic hallucinations,and night time sleep disruption.The paper reviewed the related literature and reported a case of long-term drinking induced narcolepsy which was significantly improved after treatment with paroxetine and dexzopiclone.     

发作性睡病一家系5例报告

发作性睡病是一种以长期的警醒程度减退和发作性的不可抗拒的睡眠为主要临床表现的疾病。现报告１家系５例如下。先证者（Ⅲ５），女性，学生，１５岁。患者一年前出现不可抗拒的睡眠，每天发作１～３次，每次数分钟到１小时，特别在午后发作最多，但别人呼唤后即刻清醒。...     

双相情感障碍合并发作性睡病1例

患者 ,女 ,17岁 ,学生。患者于 2 0 0 0年 10月份出现话多 ,夸大 ,易怒 ,挥霍及失眠 ,未经特殊治疗 ,3个月后恢复正常。次年 9月再次复发 ,表现同前 ,3个月后转为躯体不适 ,情绪低沉 ,服药自杀。服氟西汀 2 0mg/d及利培酮 1mg/d ,6个月后基本正常 ,并坚持服上述药物。约 1年后某日早晨突然头昏、耳鸣 ,随后进入深睡眠 ,呼之不应 ,约 10分钟恢复 ,醒后无不适。此后 ,每天不定时地有类似发作。 1周后 ,停服利培酮 ,服氯硝安定 2mg/d ,睡眠发作仍不能控制 ,脑电图及颅脑计算机断层扫描 (CT)均无异常。睡眠发作 1个月后停止。约半年后又出现话…     

发作性睡病四联征一例

患者 男,16岁,初三学生。自14岁起出现不可抗拒的发作性白天睡眠,每天发作10余次,每次几分钟到十几分钟不等,严重影响患者生活和学习。有2次因在骑自行车回家途中睡着而发生撞车事故。虽采取多种方法干预但均不     

发作性睡病1例

患者男,20岁,未婚。无明显原因出现睡眠增多1年,在开车及工作时也会出现难以控制的睡眠,有时骑自行车需下车睡眠,多伴有肌无力,每次持续15min到2h,发作次数逐渐增多。既往体健,否认有家族史。体检无阳性体征,实验窀检查及头颅CT未见异常。诊断为发作性睡病,服用氟西汀（商品名：奥麦伦）20mg／d,甲氯芬酯0．4g／d,症状逐渐减轻,1个月后症状消失。3个月后自行停药,1个月后又复发,再继续服药6个月,症状消失,随访3个月未见复发。     

EFNS guidelines on management of narcolepsy

Management of narcolepsy with or without cataplexy relies on several classes of drugs, namely stimulants for excessive daytime sleepiness and irresistible episodes of sleep, antidepressants for cataplexy and hypnosedative drugs for disturbed nocturnal sleep. In addition, behavioral measures can be of notable value. Guidelines on the management of narcolepsy have already been published. However contemporary guidelines are necessary given the growing use of modafinil to treat excessive daytime sleepiness in Europe within the last 5–10 years, and the decreasing need for amphetamines and amphetamine‐like stimulants; the extensive use of new antidepressants in the treatment of cataplexy, apart from consistent randomized placebo‐controlled clinical trials; and the present re‐emergence of gamma‐hydroxybutyrate under the name sodium oxybate, as a treatment of all major symptoms of narcolepsy. A task force composed of the leading specialists of narcolepsy in Europe has been appointed. This task force conducted an extensive review of pharmacological and behavioral trials available in the literature. All trials were analyzed according to their class evidence. Recommendations concerning the treatment of each single symptom of narcolepsy as well as general recommendations were made. Modafinil is the first‐line pharmacological treatment of excessive daytime sleepiness and irresistible episodes of sleep in association with behavioral measures. However, based on several large randomized controlled trials showing the activity of sodium oxybate, not only on cataplexy but also on excessive daytime sleepiness and irresistible episodes of sleep, there is a growing practice in the USA to use it for the later indications. Given the availability of modafinil and methylphenidate, and the forseen registration of sodium oxybate for narcolepsy (including excessive daytime sleepiness, cataplexy, disturbed nocturnal sleep) in Europe, the place of other compounds will become fairly limited. Since its recent registration cataplexy sodium oxybate has now become the first‐line treatment of cataplexy. Second‐line treatments are antidepressants, either tricyclics or newer antidepressants, the later being increasingly used these past years despite few or no randomized placebo‐controlled clinical trials. As for disturbed nocturnal sleep the best option is still hypnotics until sodium oxybate is registered for narcolepsy. The treatments used for narcolepsy, either pharmacological or behavioral, are diverse. However the quality of the published clinical evidences supporting them varies widely and studies comparing the efficacy of different substances are lacking. Several treatments are used on an empirical basis, specially antidepressants for cataplexy, due to the fact that these medications are already used widely in depressed patients, leaving little motivation from the manufacturers to investigate efficacy in relatively rare indications. Others, in particular the more recently developed substances, such as modafinil or sodium oxybate, are evaluated in large randomized placebo‐controlled trials. Our objective was to reinforce the use of those drugs evaluated in randomized placebo‐controlled trials and to reach a consensus, as much as possible, on the use of other available medications.     

Misdiagnosis in epilepsy: a review and recognition of diagnostic uncertainty

The diagnosis of first seizure or epilepsy may be challenging and misdiagnosis can occur. Studies carried out in various settings have reported misdiagnosis rates of between 4.6% and 30%. Misdiagnosis can lead to serious consequences including driving and employment restrictions and inappropriate treatments. Most studies focus on ways of reducing misdiagnosis. However, in some cases, it may be difficult to make a definite diagnosis at initial presentation. This is because of a number of reasons including overlapping clinical features with other conditions, inadequate available history and limitations of investigations. Consequently, diagnostic uncertainty is inevitable in epilepsy, although few studies acknowledge this. In this paper we review the literature on misdiagnosis rates, analyse reasons for misdiagnosis and consider limitations of available investigations. We propose that diagnostic uncertainty in epilepsy should be more widely acknowledged and addressed, and that this may reduce misdiagnosis rates.     

Characterization of rapid weight gain phenotype in children with narcolepsy

ObjectivesTo characterize the rapid weight gain (RWG) phenotype associated with the onset of childhood narcolepsy and to determine whether it could constitute a marker of severity of the disease.MethodsRWG was defined using the BMI z‐score slope reported to one year (>0.67 SD) from symptom onset to disease diagnosis. We compared the clinical, metabolic, and sleep characteristics between patients with or without RWG at diagnosis. Pharmacological management, anthropometric, and clinical progression were also evaluated during the follow‐up.ResultsA total of 84 de novo narcoleptic pediatric patients were included; their median age at diagnosis was 12.0 years; 59.5% boys, 90.5% cataplexy, and 98.7% HLA‐DQB1*06:02, 57% had RWG profile. RWG patients were younger at diagnosis than non‐RWG patients, despite a shorter diagnostic delay. They had a higher BMI z‐score and a higher prevalence of obesity at diagnosis, but not at symptom onset, and higher adapted Epworth Sleepiness Scale and Insomnia Severity Index scores than non‐RWG patients. No differences on nocturnal polysomnography and multiple sleep latency tests were found between groups at disease diagnosis. After a median follow‐up of 5 years, RWG patients still had a higher BMI z‐score and a higher prevalence of obesity despite benefiting from the same therapeutic management and displaying improvement in sleepiness and school difficulties.ConclusionsNarcoleptic RWG patients were younger, sleepier, and the prevalence of obesity was higher at diagnosis despite a shorter diagnostic delay than that of non‐RWG patients. These patients had also a higher risk of developing a long‐term obesity, despite a positive progression of their narcoleptic symptoms. RGW could then represent a maker of a more severe phenotype of childhood narcolepsy, which should inspire a prompt and more offensive management to prevent obesity and its complications.     

Reversal of atypical depression,sleepiness, and REM-sleep propensity in narcolepsy with bupropion

We successfully treated a 46-year-old narcoleptic woman suffering from atypical depression with bupropion hydrochloride. Diagnostic evaluation revealed a Beck Depression Inventory (BDI) score of 24, a short nocturnal REM-sleep latency, subjective and objective sleepiness (mean sleep latency (MSL) = 1.8 minutes), and three sleep onset REM-sleep periods during the five nap multiple sleep latency test. Bupropion (100 mg t.i.d.) Normalized her mood (BDI = 6), sleepiness (MSL = 9.1 minutes), and REM-sleep propensity. Upon discontinuation of bupropion, these parameters reverted to pretreatment levels. This “activating” antidepressant's reversal of the sleepiness and REM-sleep propensity in narcolepsy may be due to blockade of dopamine or norepinephrine reuptake. Clinicians need to be alert to the fact that depression can mask the diagnosis of narcolepsy. Bupropion warrants further investigation as a treatment for narcolepsy in an open-label, double-blind, placebo-controlled paradigm. Depression and Anxiety 7:92–95, 1998. © 1998 Wiley-Liss, Inc.     

Brugada综合征误诊为癫痫一例

患者 男,40岁,因"发作性晕厥十余年,加重1 d"于2010年7月7日住进湘雅医院神经内科.患者十余年前开始出现反复晕厥,发作前感上腹部不适,继而迅速出现黑朦,并晕厥倒地.发病时面色苍白,口唇发绀,大汗淋漓,牙关紧闭,肌张力高,双肘关节屈曲,无口吐白沫、四肢抽搐及大小便失禁,每次持续约1～2min,清醒后感四肢乏力、心慌,无头痛头晕,大约每2～12个月发作一次,并曾摔伤过头部.3年前神经内科门诊首诊,拟诊"癫痫".患者间隔2年后再发晕厥2次,入院前1 d再次晕厥5次,发作情况同前.家族中患者哥哥有夜间睡眠时猝死史,3兄妹有过类似晕厥发作史.     

因自杀行为而就诊的躯体变形障碍1例报告

概述：对治疗伴自杀行为的躯体变形障碍(body dysmorphic disorder, BDD)的病例报道较少。本文报道了一位患有BDD的19岁男性患者,两年来认为自己面部变丑,这一信念逐渐加重,几乎达妄想程度。然而,他最初被误诊为抑郁障碍,部分原因是他企图自杀,当时存在抑郁症状和社会退缩。后来经证实,这些症状是继发于BDD的。经过8周住院治疗,采用氟西汀和认知行为治疗相结合,患者的症状彻底改善,社会功能也恢复正常。这一病例提醒我们,自杀行为和意念有多方面原因;为了避免误诊和不恰当的治疗,临床医生只有在排除其它可能的原因后才能推断自杀行为和意念是抑郁症的直接结果。本文也讨论了自1886年Enrico Morselli首度报道BDD后,在理解BDD和BDD的诊断标准上的诸多变化。     

Paediatric epilepsy surgery in the posterior cortex: a study of 62 cases

Past surgical series have emphasized the diagnostic complexity of posterior cortex epilepsy. Available data are sparse, especially in children, and most published series report a high number of surgical failures and post‐operative neurological deficits. In this article, we present a paediatric cohort of 62 children who underwent surgery for drug resistant posterior cortex epilepsy before the age of 16 years with a mean post‐operative follow‐up of 6.94 years (range: 2–16). Mean age at epilepsy onset was 3.2 years and 28 children (45%) had onset before 1 year of age. The mean age at surgery was 7.9 years (range: 1–16). Daily seizures were present in 63% of children. MRI was positive in 58 cases (93.5%) and invasive stereo‐EEG was judged mandatory in 24/62 (39%) of patients. Surgery was confined to the parietal lobe in 11 children, the occipital lobe in 8, the occipito‐parietal region in four, the occipito‐temporal region in 18, and involved both the temporal and parietal lobes in the remaining 21. Following surgery, 53 subjects (85.5%) remained seizure‐free and among those who underwent a SEEG procedure, 75% achieved seizure freedom. Focal cortical dysplasia was the most frequent histopathological diagnosis (50%), followed by tumoural (24%) and gliotic lesions (14.5%). An older age at epilepsy onset, the presence of a rather restricted epileptogenic area, and a complete resection of the epileptogenic zone were predictive of a favourable surgical outcome. These results demonstrate that a good surgical outcome is possible in children with drug resistant posterior cortex epilepsy. Accurate analysis of the chronology of ictal semiology and electrophysiological features, viewed in the context of the complete electroclinical pattern, provides a topographical orientation for posterior cortex epilepsy and, together with the presence of a lesion detectable on imaging, may improve the rate of surgical success of posterior cortex epilepsy at paediatric age.     

Visual hallucinations of autobiographic memory and asomatognosia: a case of epilepsy due to brain cysticercosis

The current study describes the case of a woman with symptomatic epilepsy due to brain cysticercosis acquired during childhood. During her adolescence, she developed seizures characterized by metamorphopsia, hallucinations of autobiographic memory and, finally, asomatognosia. Magnetic brain imaging showed a calcified lesion in the right occipitotemporal cortex, and positron emission tomography imaging confirmed the presence of interictal hypometabolism in two regions: the right parietal cortex and the right lateral and posterior temporal cortex. We discuss the link between these brain areas and the symptoms described under the concepts of epileptogenic lesion, epileptogenic zone, functional deficit zone, and symptomatogenic zone.     

Drug-resistant temporal lobe epilepsy due to middle fossa meningoencephalocele in a child: A surgical case report

BackgroundMeningoencephalocele (ME) of the temporal lobe through a bone defect in the middle cranial fossa is a rare known cause of refractory temporal lobe epilepsy (TLE). ME-induced drug-resistant TLE has been described in adults; however, its incidence in children is very rare.Case reportA 7-year-old girl presented at our hospital with brief episodes of impaired consciousness and enuresis. Initial brain MRI results were interpreted as normal. Her seizures could not be controlled even with multiple anti-seizure medications. She was diagnosed with drug-resistant TLE, which presented with prolonged impaired awareness seizures for 30–60 s and secondary bilateral tonic seizures. At 9 years of age, brain MRI revealed a left temporal anteroinferior ME with a congenital bone defect in the left middle cranial fossa. She was referred for presurgical epilepsy evaluation. Long-term video electroencephalography (EEG) failed to reveal regional abnormality in the left temporal lobe; invasive evaluation using stereoelectroencephalography (SEEG) was thus indicated.Ictal onset SEEG was identified in the temporal pole near the ME which was rapidly propagated to the mesial temporal structures and other cortical regions. The left temporal pole including the ME was micro-surgically disconnected while preserving the hippocampus and amygdala. The patient’s seizures have been completely controlled for 1 year and 6 months post-operatively.ConclusionSEEG revealed rapid propagation of ictal activity in this patient’s case, confirming that the ME was epileptogenic. Since the majority of patients with refractory epilepsy caused by ME have favorable postoperative seizure outcomes, it is important to carefully check for ME in drug-resistant TLE patients with apparently normal MRI.