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1型发作性睡病与特发性全身性癫痫:双重病例的诊断与治疗挑战

Narcolepsy Type 1 and Idiopathic Generalized Epilepsy: Diagnostic and Therapeutic Challenges in Dual Cases.

作者信息

Baiardi Simone, Vandi Stefano, Pizza Fabio, Alvisi Lara, Toscani Lucia, Zambrelli Elena, Tinuper Paolo, Mayer Geert, Plazzi Giuseppe

机构信息

Department of Biomedical and Neuromotor Sciences (DIBINEM), Alma Mater Studiorum University of Bologna, Bologna, Italy.

IRCCS Istituto delle Scienze Neurologiche, Bologna, Italy.

出版信息

J Clin Sleep Med. 2015 Nov 15;11(11):1257-62. doi: 10.5664/jcsm.5180.

Abstract

STUDY OBJECTIVES

The aim of this study is to describe the possible co-occurrence of narcolepsy type 1 and generalized epilepsy, focusing on diagnostic challenge and safety of dual treatments.

METHODS AND RESULTS

Four patients with comorbidity for narcolepsy type 1 and idiopathic generalized epilepsy are reported: in three cases the onset of epilepsy preceded narcolepsy type 1 appearance, whereas in one case epileptic spells onset was subsequent. Patients presented with absences, myoclonic and tonic-clonic seizure type: in the patient with tonic-clonic seizures the dual pathology was easily recognized, in the other cases the first diagnosis caused the comorbid disease to be overlooked, independent of the time-course sequence. All four patients underwent neurological examination, video-electroencephalogram during which ictal and interictal epileptic discharges were recorded, and sleep polysomnographic studies. Repeated sleep onset rapid eye movement periods (SOREMPs) were documented with the multiple sleep latency test (MLST) in all the four cases. All patients had unremarkable brain magnetic resonance imaging studies and cerebrospinal hypocretin-1 was assessed in two patients, revealing undetectable levels. The association of antiepileptic drugs and substances currently used to treat narcolepsy type 1, including sodium oxybate, was effective in improving seizures, sleep disturbance, and cataplexy.

CONCLUSIONS

Narcolepsy type 1 may occur in association with idiopathic generalized epilepsy, leading to remarkable diagnostic and therapeutic challenges. Electrophysiological studies as well as a comprehensive somnologic interview can help confirm the diagnosis in patients with ambiguous neurological history. Sodium oxybate in combination with antiepileptic drugs is safe and effective in treating cataplexy and excessive daytime sleepiness.

摘要

研究目的

本研究旨在描述1型发作性睡病与全身性癫痫可能的共病情况,重点关注双重治疗的诊断挑战和安全性。

方法与结果

报告了4例1型发作性睡病与特发性全身性癫痫共病的患者:3例癫痫发作先于1型发作性睡病出现,而1例癫痫发作则在其后。患者出现失神、肌阵挛和强直阵挛发作类型:在强直阵挛发作的患者中,双重病理很容易识别,在其他病例中,无论时间顺序如何,首次诊断都导致合并疾病被忽视。所有4例患者均接受了神经系统检查、记录发作期和发作间期癫痫放电的视频脑电图检查以及睡眠多导睡眠图研究。所有4例患者通过多次睡眠潜伏期试验(MLST)均记录到反复出现的睡眠起始快速眼动期(SOREMPs)。所有患者的脑磁共振成像检查均无异常,对2例患者评估了脑脊液下丘脑分泌素-1,结果显示无法检测到。抗癫痫药物与目前用于治疗1型发作性睡病的药物(包括羟丁酸钠)联合使用,在改善癫痫发作、睡眠障碍和猝倒方面有效。

结论

1型发作性睡病可能与特发性全身性癫痫相关,导致显著的诊断和治疗挑战。电生理研究以及全面的睡眠学访谈有助于确诊神经病史不明确的患者。羟丁酸钠与抗癫痫药物联合使用在治疗猝倒和日间过度嗜睡方面安全有效。

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