儿童发作性睡病

and 11 months for agitated sleep, mood disorder and EDS since the age of 7 years. He fell asleep at school and while playing with friends. At the time of referral, he had gained 20 kg (BMI 26.2 kg/m2; z-scorc 6.2 SD) since the age of 7 years. No history of familial obesity was reported. However, his parents reported severe compulsive diurnal and also nocturnal binge eating. Cataplexies were also described. He presented with slight gynecomastia and precocious pubarche in the absence of testicular development. The plasma testosterone level was high (1.01 ng/ml). His sleep apnoea/hypopnoea index was 0.9/h (two central/ one obstructive apnoea, four hypopnoea). Mean sleep onset latency was 48", with five SOREMs. He was heterozygous for the HLA DQB 1*0602 phenotype. Brain MRI was normal. Modafinil was prescribed. By the age of 11 years and 10 months, he was scored as Tanner stage III-IV. His plasma leptin level (17.7 ng/ml) correlated with his BMI (25.7 kg/m2).
VOLUME 23, NO. 3,2010
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M.-P. PERRIOL ET AL.
TABLE 1
Main clinical features of the four patients Patient no. Gender Age at referral (age at onset) Sleep latency (SOREM)
θ Freund Publishing House Ltd., London
Journal of Pediatric Endocrinology & Metabolism, 23,257-265 (2010)
Childhood-Onset Narcolepsy, Obesity and Puberty in Four Consecutive Children: A Close Temporal Link
1 1 yr 6 mo (6 years) 1 2 yr 2 m4)
48" (5) 36" (5) 24" (4)
lOyromo (menstruation) No puberty. gynecomastia
8yr
24.3 +10 kg over 7 mo 26.2 + 20 kg over 48 mo 31.1 + 14 kg over 12 mo 31.6 + 30 kg over 24 mo
ABSTRACT INTRODUCTION
Narcolepsy is a rare but disabling condition that causes excessive daytime sleepiness. Interestingly, weight gain is frequent in patients with narcolepsy and it has sometimes been described very early in the course of the disease. Here, we report four consecutive obese children who were referred to our sleep laboratory for excessive daytime sleepiness and suspected sleep apnoea syndrome. They underwent nocturnal polysomnography associated with multiple sleep latency tests. Narcolepsy was diagnosed in all children with a close temporal link between the onset of narcolepsy, obesity and puberty. Scientifically, the relationship between sleep, weight, growth rate and puberty onset is striking and merits further investigation. From the clinical point of view, narcolepsy must be investigated in obese sleepy children along with obstructive sleep apnoea. Indeed, it can be controlled with appropriate treatment but the proper diagnosis relies not only upon nocturnal polysomnography but involves the systematic use of multiple sleep latency tests.
Reprint address: Marie-Pierre Perriol Neurophysiologie Clinique - Professor Derambure R. Salengro Hospital Lille University Hospital F-59037 Lille, France e-mail: mperriol@yahoo.fr
KEY WORDS
narcolepsy, obesity, puberty, sleepiness, SOREM
Narcolepsy-cataplexy involves excessive daytime sleepiness (EDS), sudden loss of muscle tone (cataplexy), sleep onset with REM sleep (SOREM), hypnagogic hallucinations and sleep paralysis'. It is a rare but socially disabling condition. The age at onset varies with two peaks, a larger one that occurs around 15 years of age and a smaller peak at approximately 35 years of age2. Unfortunately, it usually takes many years and a number of referrals before a diagnosis is made. Indeed, Challamel et α/.3 reviewed 97 paediatric cases of narcolepsy to find a mean age at onset of 9 years, with 8% of the children aged 5 years or under. In comparison with adult narcolepsy, the condition in children has received little attention, despite the fact that childhood narcolepsy is a cause of school failure, social isolation and even depression4·5. In adults, narcolepsy is frequently associated with obesity6'7. Interestingly, weight gain was reported in children with narcolepsy as well8'9. Recently, Plazzi et al. reported obesity and precocious puberty in two children with severe narcolepsy-cataplexy10. The relationship between sleep, weight, growth rate and pubertal onset appears to be of great interest. We report here four consecutive cases of childhood narcolepsy-cataplexy having undergone nocturnal polysomnographic analysis and five multiple sleep latency tests (MSLTs) for excessive daytime sleepiness and agitated sleep (Table 1). All four children showed a tight temporal link between obesity, puberty and the onset of narcolepsy. It raises the issue of the pathophysiological link between these three phenomena.