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Nervenarzt ; 85(12): 1569-72, 2014 Dec.
Artigo em Alemão | MEDLINE | ID: mdl-25388761

RESUMO

BACKGROUND: Moebius syndrome is a rare neurological disease that has a frequent association with parasomnia. CASE REPORT: 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. DISCUSSION: 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.


Assuntos
Peptídeos e Proteínas de Sinalização Intracelular/líquido cefalorraquidiano , Imageamento por Ressonância Magnética/métodos , Síndrome de Möbius/líquido cefalorraquidiano , Síndrome de Möbius/diagnóstico , Narcolepsia/líquido cefalorraquidiano , Narcolepsia/diagnóstico , Neuropeptídeos/líquido cefalorraquidiano , Polissonografia/métodos , Adolescente , Biomarcadores/líquido cefalorraquidiano , Diagnóstico Diferencial , Feminino , Humanos , Orexinas
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