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Möbius-Syndrom und Narkolepsie

Moebius syndrome and narcolepsy

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Zusammenfassung

Hintergrund

Das Möbius-Syndrom ist ein angeborenes neurologisches Syndrom, das eine häufige Assoziation mit Parasomnien aufweist.

Fallbericht

Wir berichten über eine Patientin mit Möbius-Syndrom und der klinischen Präsentation eines Narkolepsie-Kataplexie-Syndroms. Mit einer Hypoplasie des Hirnstamms in der kranialen Magnetresonanztomographie konnten wir das morphologische Korrelat zum Möbius-Syndrom aufzeigen. Die Komorbidität wurde mittels Kognitionstests, Polysomnographie und der Bestimmung von Hypokretin im Liquor erfasst. Trotz normaler Einschlaflatenzzeit und nur einmaligem Auftreten von Sleep-Onset-REM im multiplen Schlaflatenztest, dessen Aussagekraft aufgrund einer horizontalen Blickparese deutlich gemindert ist, ließ sich die Diagnose einer sekundären Parasomnie mit Narkolepsie-Kataplexie-Symptomen stellen.

Diskussion

Der niedrig gemessene Hypokretinspiegel von 132 pg/ml im Liquor ist mit dieser Diagnose vereinbar und zeigt die Relevanz einer ausführlichen Schlafdiagnostik bei Patienten mit Möbius-Syndrom.

Summary

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.

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Einhaltung ethischer Richtlinien

Interessenkonflikt. S. Krämer, U. Goldammer und E. Sindern geben an, dass kein Interessenkonflikt besteht. Dieser Beitrag beinhaltet keine Studien an Menschen oder Tieren.

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Authors and Affiliations

  1. Neurologische Klinik des Diakoniekrankenhauses Friederikenstift, Humboldtstr. 5, 30169, Hannover, Deutschland

    S. Krämer, U. Goldammer & E. Sindern

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  1. S. Krämer
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  2. U. Goldammer
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  3. E. Sindern
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Correspondence to S. Krämer.

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Krämer, S., Goldammer, U. & Sindern, E. Möbius-Syndrom und Narkolepsie. Nervenarzt 85, 1569–1572 (2014). https://doi.org/10.1007/s00115-014-4174-8

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