Prader-Willi syndrome, excessive daytime sleepiness, and narcoleptic symptoms: a case report

Journal of Medical Case Reports

Andrea M Haqq³  Daniela Rubin¹  Manisha B Witmans³  Robert Couch³  Jessica L Foulds³  Sara V Weselake² 

[1] Department of Kinesiology, California State University, 800 North State College Boulevard, Fullerton, CA 92831, USA;Department of Medicine, University of Manitoba, 727 McDermot Avenue, Winnipeg, MB R3E 3P5, Canada;Department of Pediatrics, University of Alberta, 1C4.09 Walter C. Mackenzie Centre, 8440-112 Street NW, Edmonton, AB T6G 2R7, Canada

关键词: Cataplexy;    Narcolepsy;    Excessive daytime sleepiness;    Modafinil;    Prader-Willi syndrome;    Pediatrics;   

Others  :  822163
DOI  :  10.1186/1752-1947-8-127

 received in 2013-08-28, accepted in 2014-02-24,  发布年份 2014

【 摘 要 】

Introduction

Sleep abnormalities, including narcolepsy and cataplexy, are a common feature of Prader-Willi syndrome. Long-term treatment with the central nervous system stimulant modafinil has not been reported. In this case report we present a longitudinal perspective of sleep abnormalities in a nine-year-old Caucasian girl with Prader-Willi syndrome from age two to age nine, and detail the response to treatment with the central nervous system stimulant modafinil.

Case presentation

Our patient presented at two years of age with hypersomnia and narcoleptic episodes with cataplectic features. Initial polysomnograph testing revealed adequate sleep efficiency, but increased sleep fragmentation especially during rapid eye movement sleep. The narcoleptic episodes continued and a repeat polysomnograph at age five years confirmed features consistent with narcolepsy. Further sleep studies at six years, including a multiple sleep latency test, demonstrated signs of excessive daytime sleepiness. Treatment with modafinil was initiated at age seven years six months due to persistent hypersomnia and narcoleptic symptoms. Two polysomnograph studies were performed following treatment with modafinil, at age eight years six months and nine years three months. These studies showed excellent sleep efficiency and improvement of rapid eye movement sleep parameters, supporting the beneficial effects of long-term modafinil therapy.

Conclusions

Long-term modafinil therapy may ameliorate the sleep disturbances of Prader-Willi syndrome and should be the focus of future clinical trials.

【 授权许可】

   
2014 Weselake et al.; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

【 参考文献 】

• [1]Chu CE, Cooke A, Stephenson JB, Tolmie JL, Clarke B, Parry-Jones WL, Connor JM, Donaldson MD: Diagnosis in Prader-Willi syndrome. Arch Dis Child 1994, 71:441-442.
• [2]Maas AP, Didden R, Bouts L, Smits MG, Curfs LM: Scatter plot analysis of excessive daytime sleepiness and severe disruptive behavior in adults with Prader-Willi syndrome: a pilot study. Res Dev Disabil 2009, 30:529-537.
• [3]Maas AP, Sinnema M, Didden R, Maaskant MA, Smits MG, Schrander-Stumpel CT, Curfs LM: Sleep disturbances and behavioural problems in adults with Prader-Willi syndrome. J Intellect Disabil Res 2010, 54:906-917.
• [4]Camfferman D, McEvoy RD, O’Donoghue F, Lushington K: Prader Willi syndrome and excessive daytime sleepiness. Sleep Med Rev 2008, 12:65-75.
• [5]US Modafinil in Narcolepsy Multicenter Study Group: Randomized trial of modafinil as a treatment for the excessive daytime somnolence of narcolepsy. Neurology 2000, 54:1166-1175.
• [6]Cotton S, Richdale A: Brief report: parental descriptions of sleep problems in children with autism, Down syndrome, and Prader-Willi syndrome. Res Dev Disabil 2006, 27:151-161.
• [7]Hertz G, Cataletto M, Feinsilver SH, Angulo M: Sleep and breathing patterns in patients with Prader-Willi syndrome (PWS): effects of age and gender. Sleep 1993, 16:366-371.
• [8]American Academy of Sleep Medicine: International classification of sleep disorders, revised: diagnostic and coding manual. Chicago, IL: American Academy of Sleep Medicine; 2001.
• [9]Minzenberg MJ, Carter CS: Modafinil: a review of neurochemical actions and effects on cognition. Neuropsychopharmacology 2008, 33:1477-1502.
• [10]Vela-Bueno A, Kales A, Soldatos CR, Dobladez-Blanco B, Campos-Castello J, Espino-Hurtado P, Olivan-Palacios J: Sleep in the Prader-Willi syndrome. Clinical and polygraphic findings. Arch Neurol 1984, 41:294-296.
• [11]De Cock VC, Diene G, Molinas C, Masson VD, Kieffer I, Mimoun E, Tiberge M, Tauber M: Efficacy of modafinil on excessive daytime sleepiness in Prader-Willi syndrome. Am J Med Genet A 2011, 155A:1552-1557.
• [12]Golicki D, Bala MM, Niewada M, Wierzbicka A: Modafinil for narcolepsy: systematic review and meta-analysis. Med Sci Monit 2010, 16:RA177-RA186.
• [13]Kozlov SV, Bogenpohl JW, Howell MP, Wevrick R, Panda S, Hogenesch JB, Muglia LJ, Van Gelder RN, Herzog ED, Stewart CL: The imprinted gene Magel2 regulates normal circadian output. Nat Genet 2007, 39:1266-1272.
• [14]Huang W, Ramsey KM, Marcheva B, Bass J: Circadian rhythms, sleep, and metabolism. J Clin Invest 2011, 121:2133-2141.