Literature DB >> 23772196

Narcolepsy with cataplexy mimicry: the strange case of two sisters.

Fabio Pizza1, Stefano Vandi, Francesca Poli, Keivan Kaveh Moghadam, Christian Franceschini, Claudia Bellucci, Carlo Cipolli, Francesca Ingravallo, Giuliana Natalini, Emmanuel Mignot, Giuseppe Plazzi.   

Abstract

We report on two sisters, 17 and 12 years of age, with clinical features suggesting narcolepsy with cataplexy (NC): daytime sleepiness, spontaneous and emotionally triggered sudden falls to the ground, and overweight/obesity. MSLT showed borderline sleep latency, with 1 and 0 sleep onset REM periods. HLA typing disclosed the DQB1*0602 allele. Video-polygraphy of the spells ruled out NC diagnosis by demonstrating their easy elicitation by suggestion, with wake EEG, electromyographic persistence of muscle tone, and stable presence of tendon reflexes (i.e., pseudo-cataplexy), together with normal cerebrospinal hypocretin-1 levels. Our cases emphasize the need of a clear depiction of cataplexy pattern at the different ages, the usefulness of examining ictal neurophysiology, and collecting all available disease markers in ambiguous cases.

Entities:  

Keywords:  Childhood; hypocretin-1; narcolepsy with cataplexy; pseudo cataplexy; video polysomnography

Mesh:

Substances:

Year:  2013        PMID: 23772196      PMCID: PMC3659383          DOI: 10.5664/jcsm.2764

Source DB:  PubMed          Journal:  J Clin Sleep Med        ISSN: 1550-9389            Impact factor:   4.062


  8 in total

1.  Pseudocataplexy in narcolepsy with cataplexy.

Authors:  Giuseppe Plazzi; Ramin Khatami; Leonardo Serra; Fabio Pizza; Claudio L Bassetti
Journal:  Sleep Med       Date:  2010-05-14       Impact factor: 3.492

2.  Praxis-induced seizures misdiagnosed as cataplexy: a case report.

Authors:  Giuseppe Plazzi; Paolo Tinuper
Journal:  Mov Disord       Date:  2008-10-30       Impact factor: 10.338

3.  Narcolepsy and psychiatry: an evolving association of increasing interest.

Authors:  H A Droogleever Fortuyn; P C Mulders; W O Renier; J K Buitelaar; S Overeem
Journal:  Sleep Med       Date:  2011-08       Impact factor: 3.492

4.  Narcolepsy with cataplexy associated with holoprosencephaly misdiagnosed as epileptic drop attacks.

Authors:  Giuseppe Plazzi; Caterina Tonon; Guido Rubboli; F Poli; Christian Franceschini; Fabio Pizza; Antonietta Bisulli; Giovanni Rizzo; Emmanuel Mignot; Pasquale Montagna; Raffaele Lodi
Journal:  Mov Disord       Date:  2010-04-30       Impact factor: 10.338

5.  The sleep phenotypes of attention deficit hyperactivity disorder: the role of arousal during sleep and implications for treatment.

Authors:  Silvia Miano; Pasquale Parisi; Maria Pia Villa
Journal:  Med Hypotheses       Date:  2012-05-17       Impact factor: 1.538

6.  Gelastic syncope mistaken for cataplexy.

Authors:  Abraham R Totah; Selim R Benbadis
Journal:  Sleep Med       Date:  2002-01       Impact factor: 3.492

7.  Monozygotic twins concordant for narcolepsy-cataplexy without any detectable abnormality in the hypocretin (orexin) pathway.

Authors:  Ramin Khatami; Stéphanie Maret; Esther Werth; Julia Rétey; Dagmar Schmid; Friedrich Maly; Mehdi Tafti; Claudio L Bassetti
Journal:  Lancet       Date:  2004-04-10       Impact factor: 79.321

8.  Complex movement disorders at disease onset in childhood narcolepsy with cataplexy.

Authors:  Giuseppe Plazzi; Fabio Pizza; Vincenzo Palaia; Christian Franceschini; Francesca Poli; Keivan K Moghadam; Pietro Cortelli; Lino Nobili; Oliviero Bruni; Yves Dauvilliers; Ling Lin; Mark J Edwards; Emmanuel Mignot; Kailash P Bhatia
Journal:  Brain       Date:  2011-09-19       Impact factor: 13.501

  8 in total
  4 in total

1.  Sleep dynamics beyond traditional sleep macrostructure.

Authors:  Giuseppe Plazzi; Fabio Pizza
Journal:  Sleep       Date:  2013-08-01       Impact factor: 5.849

2.  Nocturnal Sleep Dynamics Identify Narcolepsy Type 1.

Authors:  Fabio Pizza; Stefano Vandi; Martina Iloti; Christian Franceschini; Rocco Liguori; Emmanuel Mignot; Giuseppe Plazzi
Journal:  Sleep       Date:  2015-08-01       Impact factor: 5.849

Review 3.  Cataplexy and Its Mimics: Clinical Recognition and Management.

Authors:  Sigrid Pillen; Fabio Pizza; Karlien Dhondt; Thomas E Scammell; Sebastiaan Overeem
Journal:  Curr Treat Options Neurol       Date:  2017-06       Impact factor: 3.598

4.  The MSLT is Repeatable in Narcolepsy Type 1 But Not Narcolepsy Type 2: A Retrospective Patient Study.

Authors:  Chad Ruoff; Fabio Pizza; Lynn Marie Trotti; Karel Sonka; Stefano Vandi; Joseph Cheung; Swaroop Pinto; Mali Einen; Narong Simakajornboon; Fang Han; Paul Peppard; Sona Nevsimalova; Giuseppe Plazzi; David Rye; Emmanuel Mignot
Journal:  J Clin Sleep Med       Date:  2018-01-15       Impact factor: 4.062

  4 in total

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