Case report: early onset narcolepsy initially misdiagnosed as obstructive sleep apnea syndrome

Background. Narcolepsy is a chronic neurological syndrome, which is characterized by excessive sleepiness, cataplexy, hypnagogic hallucinations, and sleep paralysis during the rapid eye movement period of sleep. This disease is commonly diagnosed within adulthood. However, the first symptoms often appear in childhood and/or adolescence. Pediatric cases of narcolepsy generally remain unrecognized and undiagnosed. Clinical heterogeneity, prolonged onset and diverse symptoms contribute to the delay in diagnosis and treatment in childhood. Case. This report describes a case of narcolepsy in an 8,5-year-old male patient who was misdiagnosed as obstructive sleep apnea syndrome and many other diagnoses at different hospitals over a period of 3 years before the correct diagnosis was made. Conclusions. Narcolepsy in children is a rare neurological syndrome, which can occur with uncommon and atypical clinical presentations. In our case report we aimed to highlight pediatric narcolepsy, which could help to make more appropriate approaches and prevent misdiagnoses or diagnosis delay in these cases.

PDF

___

1. Nevsimalova S, Jara C, Prihodova I, Kemlink D, Sonka K, Skibova J. Clinical features of childhood narcolepsy. Can cataplexy be foretold? Eur J Paediatr Neurol 2011; 15: 320-325.

2. Dye TJ, Gurbani N, Simakajornboon N. Epidemiology and pathophysiology of childhood narcolepsy. Paediatr Respir Rev 2018; 25: 14-18.

3. Luo G, Ambati A, Lin L, et al. Autoimmunity to hypocretin and molecular mimicry to flu in type 1 narcolepsy. Proc Natl Acad Sci USA 2018; 115: E12323-E12332.

4. Morrish E, King MA, Smith IE, Shneerson JM. Factors associated with a delay in the diagnosis of narcolepsy. Sleep Med 2004; 5: 37-41.

5. 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.

6. Silber MH, Krahn LE, Olson EJ, Pankratz VS. The epidemiology of narcolepsy in Olmsted County, Minnesota: a population-based study. Sleep 2002; 25: 197-202.

7. Bourgin P, Zeitzer JM, Mignot E. CSF hypocretin-1 assessment in sleep and neurological disorders. Lancet Neurol 2008; 7: 649-662.

8. Andlauer O, Moore H 4th, Hong SC, et al. Predictors of hypocretin (orexin) deficiency in narcolepsy without cataplexy. Sleep 2012; 35: 1247-1255F.

9. Nishino S, Okura M, Mignot E. Narcolepsy: genetic predisposition and neuropharmacological mechanisms. REVIEW ARTICLE. Sleep Med Rev 2000; 4: 57-99.

10. 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.

11. Ton TG, Longstreth WT Jr, Koepsell TD. Active and passive smoking and risk of narcolepsy in people with HLA DQB1*0602: a population-based case- control study. Neuroepidemiology 2009; 32: 114-121.

12. Ton TG, Longstreth WT Jr, Koepsell TD. Environmental toxins and risk of narcolepsy among people with HLA DQB1*0602. Environ Res 2010; 110: 565-570.

13. Cvetkovic-Lopes V, Bayer L, Dorsaz S, et al. Elevated Tribbles homolog 2–specific antibody levels in narcolepsy patients. J Clin Invest 2010; 120: 713-719.

14. Aran A, Lin L, Nevsimalova S, et al. Elevated anti- streptococcal antibodies in patients with recent narcolepsy onset. Sleep 2009; 32: 979-983.

15. Partinen M, Saarenpaa-Heikkila O, Ilveskoski I, et al. Increased incidence and clinical picture of childhood narcolepsy following the 2009 H1N1 pandemic vaccination campaign in Finland. PLoS One 2012; 7: e33723.

16. American Academy of Sleep Medicine. The International Classification of Sleep Disorders, Diagnostic and Coding Manual. (2nd ed). Westchester, IL: American Academy of Sleep Medicine, 2005. https://scholar.google.com/ scholar_ lookup? title=International+ Classification+of+Sleep+ Disorders:+ Diagnostic+and+ Coding+ Manual& publication_year=2005& (Accessed on February 22, 2021).

17. Akintomide GS, Rickards H. Narcolepsy: a review. Neuropsychiatr Dis Treat 2011; 7: 507-518.

18. 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.

19. Valko PO, Poryazova R. Secondary narcolepsy. In: Baumann C, Bassetti CL, Scammell TE (eds). Narcolepsy Pathophysiology, Diagnosis, and Treatment. (1 st ed) New York: Springer, 2011: 321- 339.