Division of Neurology, Department of Clinical Medicine, Universidade Federal do Ceará, Brazil; Neurology Service, Hospital Geral de Fortaleza, Fortaleza, Ceará, Brazil.
Division of Neurology, Department of Clinical Medicine, Universidade Federal do Ceará, Brazil; Universidade de Fortaleza, Fortaleza, Ceará, Brazil; Unichristus University, Fortaleza, Ceará, Brazil.
Sleep Med. 2019 May;57:122-127. doi: 10.1016/j.sleep.2019.02.007. Epub 2019 Feb 19.
The aim of this study was to clinically characterize sleep disorders in a cohort of Niemann-Pick type C (NPC) patients, correlating these findings with disease features and polysomnographic (PSG) results.
We evaluated eight consecutive patients with molecular confirmation of NPC followed at the Hospital Geral de Fortaleza. Patients underwent a comprehensive neurological and sleep evaluation. Four participants underwent polysomnography and then performed the multiple sleep latency test.
All eight patients evaluated had sleep disorders. Four participants performed polysomnography followed by multiple sleep latency test. Chronic insomnia and Obstructive Sleep Apnea (OSA) were the most frequent sleep disorders (62,5%). Two patients were diagnosed with Restless Legs Syndrome (RLS) (25%) and two with probable REM sleep behavior disorder (RBD) (25%). All the patients who did polysomnography had reduced and/or disorganized sleep, with reduction on sleep efficiency, total sleep time and REM sleep time.
Our results suggest that sleep abnormalities in Niemann-Pick type C patients may be more prevalent than previously thought.
本研究旨在对尼曼-匹克 C 型（NPC）患者队列中的睡眠障碍进行临床特征分析，并将这些发现与疾病特征和多导睡眠图（PSG）结果相关联。
我们评估了在福塔莱萨总医院接受治疗的 8 名经分子确诊的 NPC 连续患者。患者接受了全面的神经学和睡眠评估。其中 4 名参与者进行了多导睡眠图检查，然后进行了多次睡眠潜伏期测试。
评估的 8 名患者均存在睡眠障碍。其中 4 名参与者进行了多导睡眠图检查和多次睡眠潜伏期测试。慢性失眠和阻塞性睡眠呼吸暂停（OSA）是最常见的睡眠障碍（62.5%）。2 名患者被诊断为不安腿综合征（RLS）（25%），2 名患者被诊断为可能的 REM 睡眠行为障碍（RBD）（25%）。所有进行多导睡眠图检查的患者均存在睡眠减少和/或紊乱，睡眠效率、总睡眠时间和 REM 睡眠时间减少。
我们的结果表明，尼曼-匹克 C 型患者的睡眠异常可能比先前认为的更为普遍。
