title: 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.
authors.affiliation: Department of Biomedical and Neuromotor Sciences, University of Bologna, and IRCCS Istituto delle Scienze Neurologiche, AUSL di Bologna, Bologna, Italy.
authors.forename: Fabio
authors.initials: F
authors.lastname: Pizza
authors.forename: Stefano
authors.initials: S
authors.lastname: Vandi
authors.forename: Francesca
authors.initials: F
authors.lastname: Poli
authors.forename: Keivan Kaveh
authors.initials: KK
authors.lastname: Moghadam
authors.forename: Christian
authors.initials: C
authors.lastname: Franceschini
authors.forename: Claudia
authors.initials: C
authors.lastname: Bellucci
authors.forename: Carlo
authors.initials: C
authors.lastname: Cipolli
authors.forename: Francesca
authors.initials: F
authors.lastname: Ingravallo
authors.forename: Giuliana
authors.initials: G
authors.lastname: Natalini
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Mignot
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Plazzi
mesh_terms: D000293:Adolescent; D000367:Age Factors; D002385:Cataplexy / Q000175:diagnosis* / Q000503:physiopathology; D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000134:cerebrospinal fluid; D009290:Narcolepsy / Q000175:diagnosis* / Q000503:physiopathology; D009479:Neuropeptides / Q000134:cerebrospinal fluid; D000068797:Orexins; D017286:Polysomnography; D014741:Video Recording
chemical_list: C000596229:HCRT protein, human; D047908:Intracellular Signaling Peptides and Proteins; D009479:Neuropeptides; D000068797:Orexins
keywords: Childhood; hypocretin-1; narcolepsy with cataplexy; pseudo cataplexy; video polysomnography