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


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.

SUBMITTER: Pizza F 

PROVIDER: S-EPMC3659383 | biostudies-literature | 2013 Jun

REPOSITORIES: biostudies-literature

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

Pizza Fabio F   Vandi Stefano S   Poli Francesca F   Moghadam Keivan Kaveh KK   Franceschini Christian C   Bellucci Claudia C   Cipolli Carlo C   Ingravallo Francesca F   Natalini Giuliana G   Mignot Emmanuel E   Plazzi Giuseppe G  

Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine 20130615 6


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 o  ...[more]

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