Krämer S, Goldammer U, Sindern E
Neurologische Klinik des Diakoniekrankenhauses Friederikenstift, Humboldtstr. 5, 30169, Hannover, Deutschland,
Nervenarzt. 2014 Dec;85(12):1569-72. doi: 10.1007/s00115-014-4174-8.
Moebius syndrome is a rare neurological disease that has a frequent association with parasomnia.
We report on a patient with Moebius syndrome and the clinical presentation of a narcolepsy cataplexy syndrome. With the hypoplasia of the brainstem in the cranial magnetic resonance imaging, we were able to show the morphological correlate of Moebius syndrome. Comorbidity was detected by cognitive tests, polysomnography and detection of hypocretin in the cerebrospinal fluid. Despite normal sleep onset latency and only one episode of sleep onset rapid eye movement (REM) in the multiple sleep latency test, where expressiveness is significantly reduced in cases of paralysis of horizontal eye movement, the diagnosis of parasomnia with narcolepsy cataplexy symptoms could be made.
The hypocretin level of 132 pg/ml measured in the cerebro spinal fluid is compatible with this diagnosis and shows the relevance of a detailed diagnostic of parasomnia in patients with Moebius syndrome.
梅比厄斯综合征是一种罕见的神经系统疾病,常与异态睡眠相关。
我们报告了一名患有梅比厄斯综合征且有发作性睡病猝倒综合征临床表现的患者。通过头颅磁共振成像显示脑干发育不全,我们得以展示梅比厄斯综合征的形态学关联。通过认知测试、多导睡眠图和脑脊液中食欲素的检测发现了合并症。尽管入睡潜伏期正常,且在多次睡眠潜伏期测试中仅出现一次入睡时快速眼动(REM),而在水平眼球运动麻痹的病例中该表现会显著降低,但仍可做出伴有发作性睡病猝倒症状的异态睡眠诊断。
脑脊液中测得的食欲素水平为132 pg/ml与该诊断相符,表明对梅比厄斯综合征患者进行异态睡眠详细诊断的相关性。