智力障碍合并癫痫与阻塞性睡眠呼吸暂停中的发作性睡病样表现：一例基于病例的诊断分析与文献启发式讨论

文献信息

中文摘要

日间过度嗜睡（EDS）、夜间意识受损发作以及异常睡眠相关行为具有复杂且相互重叠的病因。发作性睡病、阻塞性睡眠呼吸暂停（OSA）和癫痫性夜间事件可能表现出相似的临床表现。在智力障碍（ID）患者中，自我报告受限、照护者观察不完整以及诊断遮蔽可能导致临床医生将潜在的神经系统或睡眠障碍错误归因于既有的认知障碍或精神行为问题，从而导致诊断延迟或误诊。我们报告一例具有终身认知和适应功能损害的34岁女性，因长期打鼾、EDS和两次夜间意识受损发作而被转诊。一家外部急诊科此前曾将“睡眠呼吸暂停？”和“发作性睡病？”列为可能诊断。经过详细的旁证病史采集、整夜多导睡眠监测（PSG）、多次睡眠潜伏期试验（MSLT）以及两次24小时动态脑电图（EEG）记录后，她被诊断为局灶性至双侧强直-阵挛发作的癫痫、中度OSA和轻度ID。在同时启动左乙拉西坦（LEV）和持续气道正压（CPAP）治疗后的6个月随访中，未再报告夜间意识受损发作、肢体抽动或口唇发绀；她的EDS也有所改善，Epworth嗜睡量表（ESS）评分从基线的18/24降至6/24。本基于病例的诊断分析并非仅报告一种罕见共病，而是利用该索引病例来阐明ID患者中EDS和夜间事件的鉴别诊断方法，突出发作性睡病、OSA相关嗜睡与癫痫性夜间事件之间的关键区别，并强调当OSA与癫痫共存时需要整合管理。

英文摘要

Excessive daytime sleepiness (EDS), nocturnal impaired-awareness episodes, and abnormal sleep-related behaviors have complex and overlapping etiologies. Narcolepsy, obstructive sleep apnea (OSA), and epileptic nocturnal events may present with similar clinical manifestations. In patients with intellectual disability (ID), restricted self-reporting, incomplete caregiver observations, and diagnostic overshadowing may lead clinicians to misattribute underlying neurological or sleep disorders to preexisting cognitive impairment or psychiatric and behavioral problems, resulting in delayed diagnosis or misdiagnosis. We present an illustrative case of a 34-year-old woman with lifelong cognitive and adaptive impairments who was referred for long-standing snoring, EDS, and two nocturnal impaired-awareness episodes. An outside emergency department had previously considered "sleep apnea?" and "narcolepsy?" as possible diagnoses. After detailed collateral history-taking, overnight polysomnography (PSG), the Multiple Sleep Latency Test (MSLT), and two 24-hour ambulatory electroencephalography (EEG) recordings, she was diagnosed with epilepsy with focal to bilateral tonic-clonic seizures, moderate OSA, and mild ID. At the 6-month follow-up after concurrent initiation of levetiracetam (LEV) and continuous positive airway pressure (CPAP) therapy, no further nocturnal impaired-awareness episodes, limb jerking, or cyanosis of the lips were reported; her EDS also improved, with the Epworth Sleepiness Scale (ESS) score decreasing from 18/24 at baseline to 6/24. Rather than reporting a rare comorbidity alone, this case-based diagnostic analysis uses the index case to clarify the differential diagnostic approach to EDS and nocturnal events in patients with ID, highlights the key distinctions among narcolepsy, OSA-related sleepiness, and epileptic nocturnal events, and emphasizes the need for integrated management when OSA and epilepsy coexist.