A narcolepsia napközbeni rövid alvásbetörésekkel, fokozott érzelmi szituációkban kialakuló átmeneti izomtónusvesztéssel (cataplexia), a rövid bealvások során is jelentkező álomtevékenységgel (hypnagog hallucináció), ébredéskor megfigyelt átmeneti mozgásképtelenséggel (alvási paralízis) járó, ritka betegség. Hazánkban mindössze 2–3000 embert érinthet. Jellegzetes tünetei ellenére a betegség felismerése nehézkes, sokszor évtizedes késés figyelhető meg a korrekt diagnózis és így a hatásos terápia kialakításáig. Különös figyelmet követelnek a gyermekkori kezdetű esetek, mivel a klasszikus fenti panaszokat számos egyéb tünet (például extrapyramidalis mozgászavarra hasonlító események stb.) is kíséri, a panaszok sokkal összetettebbek. Az egyes klasszikus tünetek – mint például a cataplexia – megjelenése is eltér a felnőttkorban észlelhetőtől. Ezek nagyban megnehezítik a felismerését. A szerteágazó panaszok és tünetek magyarázzák a diagnosztikus tévedéseket, késlekedéseket: a valós kórisme helyett sokszor különféle neurológiai és pszichiátriai betegség diagnózisával kezelik a pácienseket. A nem megfelelő kezelésnek negatív hatása lehet a gyermek iskolai teljesítményére, érintheti a szociális interakcióit, pályaválasztását, kihathat mindennapi életére, életminőségére. Az összefoglaló közleményben ismertetjük a narcolepsia klasszikus jellegzetességei mellett a gyermekkori esetek eltérő tüneteit, patofiziológiáját, a differenciáldiagnosztikai nehézségeket, a kezelés elmaradásának következményeit, a diagnosztikus kritériumokat és a terápiás lehetőségeket. Orv Hetil. 2024; 165(6): 211–220.
Narcolepsy is a rare disorder with brief daytime sleep periods, transient loss of muscle tone in emotional situations (cataplexy), dream mentation during short periods of sleep (hypnagog hallucinations), and transient inability to move on waking (sleep paralysis), affecting only 2–3000 people in Hungary. Despite its characteristic symptoms, it is difficult to recognise the disease and there is often a delay of decades before a correct diagnosis and hence effective therapy. Cases with a childhood onset require special attention, as the classic complaints mentioned above are accompanied by a number of other symptoms (e.g., extrapyramidal movement disorder-like events, etc.), and the complaints are much more complex. The presentation of some of the classic symptoms, such as cataplexy, is also different from that in adulthood. They make recognition very difficult. The wide range of complaints and symptoms explain diagnostic errors and delays. In the absence of a real pathology, patients are often treated with diagnoses of various neurological and psychiatric disorders. Inappropriate treatment also negatively affects the child’s academic development, social interactions, career choice, daily life and quality of life. In this summary, we describe the classical features of narcolepsy, the different symptoms, pathophysiology, differential diagnosis and consequences of non-treatment in childhood cases, diagnostic criteria and therapeutic options. Orv Hetil. 2024; 165(6): 211–220.
Dauvilliers Y, Arnulf I, Mignot E. Narcolepsy with cataplexy. Lancet 2007; 369: 499–511.
Sateia M (ed.) International classification of sleep disorders. 3rd ed. American Academy of Sleep Medicine, Darien, IL, 2014.
Longstreth Jr. WT, Koepsell TD, Ton TG, et al. The epidemiology of narcolepsy. Sleep 2007; 30: 13–26.
Wilner A, Steinman L, Lavie P, et al. Narcolepsy cataplexy in Israeli Jews is associated exclusively with the HLA DR2 haplotype. A study at the serological and genomic level. Hum Immunol. 1988; 21: 15–22.
Suzuki K, Miyamoto M, Miyamoto T, et al. The prevalence and characteristics of primary headache and dream-enacting behaviour in Japanese patients with narcolepsy or idiopathic hypersomnia: a multi-centre cross-sectional study. PLOS ONE 2015; 10: e0139229.
Wijnans L, Lecomte C, De Vries C, et al. The incidence of narcolepsy in Europe: before, during, and after the influenza A(H1N1)pdm09 pandemic and vaccination campaigns. Vaccine 2013; 31: 1246–1254.
Szakács A, Darin N, Hallböök T. Increased childhood incidence of narcolepsy in Western Sweden after H1N1 influenza vaccination. Neurology 2013; 80: 1315–1321.
Han F, Lin L, Warby SC, et al. Narcolepsy onset is seasonal and increased following the 2009 H1N1 pandemic in China. Ann Neurol. 2011; 70: 410–417.
Dye TJ, Gurbani N, Simakajornboon N. Epidemiology and pathophysiology of childhood narcolepsy. Paediatr Respir Rev. 2018; 25: 14–18.
Li SB, de Lecea L. The hypocretin (orexin) system: from a neural circuitry perspective. Neuropharmacology 2020; 167: 107993.
Nishino S, Ripley B, Overeem S, et al. Low cerebrospinal fluid hypocretin (orexin) and altered energy homeostasis in human narcolepsy. Ann Neurol. 2001; 50: 381–388.
Barateau L, Pizza F, Chenini S, et al. Narcolepsies, update in 2023. Rev Neurol. 2023; 179: 727–740.
Chavda V, Chaurasia B, Umana GE, et al. Narcolepsy. A neuropathological obscure sleep disorder: a narrative review of current literature. Brain Sci. 2022; 12: 1473.
Ahmed SS, Schur PH, MacDonald NE, et al. Narcolepsy, 2009 A(H1N1) pandemic influenza, and pandemic influenza vaccinations: what is known and unknown about the neurological disorder, the role for autoimmunity, and vaccine adjuvants. J Autoimmun. 2014; 50: 1–11.
Miller E, Andrews N, Stellitano L, et al. Risk of narcolepsy in children and young people receiving AS03 adjuvanted pandemic A/H1N1 2009 influenza vaccine: retrospective analysis. BMJ 2013; 346: f794.
Aran A, Lin L, Nevsimalova S, et al. Elevated anti-streptococcal antibodies in patients with recent narcolepsy onset. Sleep 2009; 32: 979–983.
Plazzi G, Clawges HM, Owens JA. Clinical characteristics and burden of illness in pediatric patients with narcolepsy. Pediatr Neurol. 2018; 85: 21–32.
Rocca FL, Pizza F, Ricci E, et al. Narcolepsy during childhood: an update. Neuropediatrics 2015; 46: 181–198.
Plazzi G, Pizza F, Palaia V, et al. Complex movement disorders at disease onset in childhood narcolepsy with cataplexy. Brain 2011; 134: 3477–3489.
Nevsimalova S. Narcolepsy in childhood. Sleep Med Rev. 2009; 13: 169–180.
Pizza F, Franceschini C, Peltola H, et al. Clinical and polysomnographic course of childhood narcolepsy with cataplexy. Brain 2013; 136: 3787–3795.
Wehrle R, Bruck D. Growing up with narcolepsy: consequences for adolescents and young adults. Somnologie 2011; 15: 32–38.
Poli F, Pizza F, Mignot E, et al. High prevalence of precocious puberty and obesity in childhood narcolepsy with cataplexy. Sleep 2013; 36: 175–181.
Maia Palhano AC, Kim LJ, Moreira GA, et al. Narcolepsy, precocious puberty and obesity in the pediatric population: a literature review. Pediatr Endocrinol Rev. 2018; 16: 266–274.
Schuld A, Hebebrand J, Geller F, et al. Increased body-mass index in patients with narcolepsy. Lancet 2000; 355: 1274–1275.
Inocente CO, Gustin MP, Lavault S, et al. Depressive feelings in children with narcolepsy. Sleep Med. 2014; 15: 309–314.
Ren J, Zhao X, Su C, et al. ADHD in narcolepsy: a closer look at prevalence and ties. Neurosci Biobehav Rev. 2024; 156: 105471.
Lecendreux M, Lavault S, Lopez R, et al. Attention-deficit/hyperactivity disorder (ADHD) symptoms in pediatric narcolepsy: across sectional study. Sleep 2015; 38: 1285–1295.
Postiglione E, Antelmi E, Pizza F, et al. The clinical spectrum of childhood narcolepsy. Sleep Med Rev. 2018; 38: 70–85.
Bassetti CL, Adamantidis A, Burdakov D, et al. Narcolepsy. Clinical spectrum, aetiopathophysiology, diagnosis and treatment. Nat Rev Neurol. 2019; 15: 519–539.
Meyer C, Ferrari GJ Jr., Barbosa DG, et al. Analysis of daytime sleepiness in adolescents by the pediatric daytime sleepiness scale: a systematic review. Rev Paul Pediatr. 2017; 35: 351–360.
Dauvilliers Y, Gosselin A, Paquet J, et al. Effect of age on MSLT results in patients with narcolepsy-cataplexy. Neurology 2004; 62: 46–50.
Pizza F, Barateau L, Jaussent I, et al. Validation of Multiple Sleep Latency Test for the diagnosis of pediatric narcolepsy type 1. Neurology 2019; 93: e1034–e1044.
Bikov A, Mészáros M, Kunos L. Characteristics of Hungarian patients with obstructive sleep apnoea. [Obstruktív alvási apnoéban szenvedő betegek jellemzői hazai beteganyagon.] Orv Hetil. 2020; 161: 2117–2123. [Hungarian]
Molnár V, Molnár A, Lakner Z, et al. Analysis of the most important features of obstructive sleep apnoea. [Az obstruktív alvási apnoe főbb jellemzőinek vizsgálata.] Orv Hetil. 2022; 163: 586–592. [Hungarian]
Galántai D, Benedek P, Horváth T. The efficacy of STOP-BANG questionnaire in screening of benign snoring and mild obstructive sleep apnea. [A STOP-BANG kérdőív hatékonysága a benignus horkolás és az enyhe obstruktív alvási apnoe kiszűrésében.] Orv Hetil. 2023; 164: 265–272. [Hungarian]
Moghadam KK, Pizza F, La Morgia C, et al. Narcolepsy is a common phenotype in HSAN IE and ADCA-DN. Brain 2014; 137: 1643–1655.
Macleod S, Ferrie C, Zuberi SM. Symptoms of narcolepsy in children misinterpreted as epilepsy. Epileptic Disord. 2005; 7: 13–17.
Kornum BR, Knudsen S, Ollila HM, et al. Narcolepsy. Nat Rev Dis Primers 2017; 3: 16100.
Plazzi G, Khatami R, Serra L, et al. Pseudocataplexy in narcolepsy with cataplexy. Sleep Med. 2010; 11: 591–594.
Devic M, Aimard G. Evolution of narcoleptic symptoms in several patients. In: Guilleminault C, Dement WC, Passouant P. (eds.) Narcolepsy. Proceedings of the first international symposium on narcolepsy, 1975. Montpellier, France. Spectrum, New York, NY, 1976; pp. 197–200.
Quaedackers L, Pillen S, Overeem S. Recognizing the symptom spectrum of narcolepsy to improve timely diagnosis: a narrative review. Nat Sci Sleep 2021; 13: 1083–1096.
Thorpy MJ, Krieger AC. Delayed diagnosis of narcolepsy: characterization and impact. Sleep Med. 2014; 15: 502–507.
Rosenberg R, Kim AY. The AWAKEN survey: knowledge of narcolepsy among physicians and the general population. Postgrad Med. 2014; 126: 78–86.
Morrish E, King MA, Smith IE, et al. Factors associated with a delay in the diagnosis of narcolepsy. Sleep Med. 2004; 5: 37–41.
Szűcs A, Janszky J, Holló A, et al. Misleading hallucinations in unrecognized narcolepsy. Acta Psychiatr Scand. 2003; 108: 314–316.
Black J, Reaven NL, Funk SE, et al. Medical comorbidity in narcolepsy: findings from the Burden of Narcolepsy Disease (BOND) study. Sleep Med. 2017; 33: 13–18.
Franceschini C, Pizza F, Antelmi E, et al. Narcolepsy treatment: pharmacological and behavioral strategies in adults and children. Sleep Breath 2020; 24: 615–627.
Chung IH, Chin WC, Huang YS, et al. Pediatric narcolepsy – a practical review. Children 2022; 9: 974.
Kallweit U, Bassetti CL. Pharmacological management of narcolepsy with and without cataplexy. Expert Opin Pharmacother. 2017; 18: 809–817.
Bassetti CLA, Kallweit U, Vignatelli L, et al. European guideline and expert statements on the management of narcolepsy in adults and children. J Sleep Res. 2021; 30: e13387.
Ivanenko A, Tauman R, Gozal D. Modafinil in the treatment of excessive daytime sleepiness in children. Sleep Med. 2003; 4: 579–582.
Lecendreux M, Berthier J, Corny J, et al. Intravenous immunoglobulin therapy in pediatric narcolepsy: a nonrandomized, open-label, controlled, longitudinal observational study. J Clin Sleep Med. 2017; 13: 441–453.
Dauvilliers Y, Carlander B, Rivier F. Successful management of cataplexy with intravenous immunoglobulins at narcolepsy onset. Ann Neurol. 2004; 56: 905–908.