Künstler Erika C S, Schwab Matthias, Schroeder Henry W S, Rupprecht Sven
Department of Neurology, Jena University Hospital, Jena, Germany.
Interdisciplinary Centre for Sleep and Ventilatory Medicine, Jena University Hospital, Jena, Germany.
Nat Sci Sleep. 2023 Nov 9;15:925-930. doi: 10.2147/NSS.S407808. eCollection 2023.
The pathogenesis of different narcolepsy phenotypes remains unclear. In rare cases, narcolepsy can be attributable to secondary brain pathologies affecting the midbrain. These cases may elucidate the pathological background and the treatment of narcolepsy, but are often limited by poor objective symptom characterization and effects of therapeutic intervention, especially by modern diagnostic standards.
A young adult presented with excessive daytime sleepiness (EDS) that was refractory to classic narcolepsy medication. Diagnosis of narcolepsy was made based on the pathologically shortened sleep latencies in polysomnography and Multiple Sleep Latency Test (MSLT), together with confirmed sleep-onset REM-sleep (SOREM). Preserved hypocretin levels in cerebrospinal fluid, together with the absence of cataplectic events confirmed the diagnosis of narcolepsy type II. MRI revealed a large arachnoid cyst with compression of the midbrain.
Six months after fenestration of the cyst, the patient's EDS had vastly improved. No further SOREM was observed, and polysomnographic and MSLT sleep latencies normalized. No further drug treatment was required.
Symptomatic narcolepsy due to space-occupying lesions in the mesencephalon comprises a unique curative treatment option. Here, surgical intervention offers an effective curative therapeutic approach. However, differential diagnosis of symptomatic narcolepsy requires special consideration.
不同发作性睡病表型的发病机制仍不清楚。在罕见情况下，发作性睡病可归因于影响中脑的继发性脑部病变。这些病例可能有助于阐明发作性睡病的病理背景和治疗方法，但往往受到客观症状特征描述不佳以及治疗干预效果的限制，尤其是按照现代诊断标准。
一名年轻成人出现日间过度嗜睡（EDS），对经典的发作性睡病药物治疗无效。基于多导睡眠图和多次睡眠潜伏期试验（MSLT）中病理性缩短的睡眠潜伏期，以及确诊的睡眠始发快速眼动睡眠（SOREM），做出发作性睡病的诊断。脑脊液中食欲素水平正常，且无猝倒发作，证实为II型发作性睡病。磁共振成像（MRI）显示一个大的蛛网膜囊肿压迫中脑。
囊肿开窗术后6个月，患者的EDS有了极大改善。未再观察到SOREM，多导睡眠图和MSLT的睡眠潜伏期恢复正常。无需进一步药物治疗。
中脑占位性病变所致症状性发作性睡病包含一种独特的治愈性治疗选择。在此，手术干预提供了一种有效的治愈性治疗方法。然而，症状性发作性睡病的鉴别诊断需要特别考虑。
