Literature DB >> 25388761

[Moebius syndrome and narcolepsy].

S Krämer1, U Goldammer, E Sindern.   

Abstract

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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Year:  2014        PMID: 25388761     DOI: 10.1007/s00115-014-4174-8

Source DB:  PubMed          Journal:  Nervenarzt        ISSN: 0028-2804            Impact factor:   1.214


  31 in total

1.  Mutation analysis in the candidate Möbius syndrome genes PGT and GATA2 on chromosome 3 and EGR2 on chromosome 10.

Authors:  B Van Der Zwaag; H T F M Verzijl; D Beltran-Valero De Bernabe; V L Schuster; H Van Bokhoven; H Kremer; M Van Reen; G H Wichers; H G Brunner; G W Padberg
Journal:  J Med Genet       Date:  2002-06       Impact factor: 6.318

2.  Hypocretin levels in sporadic and familial cases of canine narcolepsy.

Authors:  B Ripley; N Fujiki; M Okura; E Mignot; S Nishino
Journal:  Neurobiol Dis       Date:  2001-06       Impact factor: 5.996

3.  Cognitive evaluation in adult patients with Möbius syndrome.

Authors:  H T F M Verzijl; N van Es; H J C Berger; G W Padberg; K P M van Spaendonck
Journal:  J Neurol       Date:  2005-02       Impact factor: 4.849

4.  Value of the multiple sleep latency test (MSLT) for the diagnosis of narcolepsy.

Authors:  M S Aldrich; R D Chervin; B A Malow
Journal:  Sleep       Date:  1997-08       Impact factor: 5.849

5.  Hypocretin (orexin) deficiency in human narcolepsy.

Authors:  S Nishino; B Ripley; S Overeem; G J Lammers; E Mignot
Journal:  Lancet       Date:  2000-01-01       Impact factor: 79.321

6.  Möbius syndrome. Neuropathologic observations.

Authors:  J Towfighi; K Marks; E Palmer; R Vannucci
Journal:  Acta Neuropathol       Date:  1979-10       Impact factor: 17.088

Review 7.  The epidemiology of narcolepsy.

Authors:  W T Longstreth; Thomas D Koepsell; Thanh G Ton; Audrey F Hendrickson; Gerald van Belle
Journal:  Sleep       Date:  2007-01       Impact factor: 5.849

8.  Symptomatic cataplexy in pontomedullary lesions.

Authors:  O F D'Cruz; B V Vaughn; S H Gold; R S Greenwood
Journal:  Neurology       Date:  1994-11       Impact factor: 9.910

9.  The narcoleptic borderland: a multimodal diagnostic approach including cerebrospinal fluid levels of hypocretin-1 (orexin A).

Authors:  Claudio Bassetti; Matthias Gugger; Matthias Bischof; Johannes Mathis; Christian Sturzenegger; Esther Werth; Bogdan Radanov; Beth Ripley; Seiji Nishino; Emmanuel Mignot
Journal:  Sleep Med       Date:  2003-01       Impact factor: 3.492

10.  Radiologic evidence for absence of the facial nerve in Möbius syndrome.

Authors:  Harriëtte T F M Verzijl; Jaap Valk; Rob de Vries; George W Padberg
Journal:  Neurology       Date:  2005-03-08       Impact factor: 9.910

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