The first-line treatment of daytime hypersomnia in adults is modafinil, but its administration in children younger than 16 years has not been approved, even though clinical experience suggests that it is an effective, safe and commonly used drug to manage narcolepsy in the paediatric age group. Key elements of management include proper sleep hygiene practices, avoidance of substances that promote a lethargic state or increase wakefulness, and adequate psychosocial support. 3Īlthough a specific treatment for narcolepsy-cataplexy in children has yet to be established, there are two different and complementary approaches to its management: a cognitive-behavioural approach, and a pharmacological-symptomatic approach. When there is suspicion of persistent hypersomnia compatible with narcolepsy, it is important to determine its severity by means of validated scales, such as the modified Epworth Sleepiness Scale or the Paediatric Daytime Sleepiness Scale, and to confirm the diagnosis by means of specific complementary tests: a PSG followed by a MSLT, an immunogenetic examination, and measurement of the CSF hypocretin-1 concentration. The measurement of hypocretin is a definitive diagnostic test, albeit one that must be interpreted within the appropriate clinical context. Narcolepsy-cataplexy has an autoimmune origin that targets the secretion of hypocretin-1, 4 a neurotransmitter produced in the dorsal and lateral hypothalamus that promotes wakefulness and inhibits REM sleep. The patient reported a substantial improvement in his quality of life. We prescribed immediate release methylphenidate at breakfast and following each of two 30-min naps after lunch and the afternoon snack, and imipramine before bedtime. We finally initiated symptomatic treatment for narcolepsy, stressing the importance of proper sleep hygiene. All of these results were compatible with narcolepsy-cataplexy, so more specific studies were conducted: the immunochemical assay was positive for HLA-DQB1*0602, and the measurement of hypocretin-1 in cerebrospinal fluid (CSF) revealed a concentration below 10 pg/mL, confirming the clinical diagnosis. The multiple sleep latency test (MSLT) comprised 4 naps REM sleep at sleep onset occurred in 3 of the naps, and the mean sleep latency was less than one minute. The modified Epworth sleepiness scale was completed to assess the degree of daytime sleepiness, and the patient scored within the severe range (20/24).Ī polysomnography (PSG) was performed, showing a disrupted sleep architecture with fragmented but efficient sleep with onset in REM sleep and with a higher than expected proportion of REM sleep for his age. The awake electroencephalogram and the head and hypothalamus MRIs were normal. The clinical examination was normal, although the child reported sleepiness. In the past few weeks he had been eating more than usual. In the last 2 months the patient had experienced 4–5 episodes a day of sudden and brief loss of muscle tone in the neck and lower extremities with no clear trigger and associated, as we later found, to tongue protrusion. He also reported chronic daytime hypersomnia punctuated with sleep attacks during which the patient dreamed. The child sought care for attention deficit with a decline in academic performance lasting 3 months. There was no family history of neurologic disease. We present the case of a 9-year-old boy that was previously healthy. It has an autoimmune aetiology, the target of which is the secretion of the hypothalamic neuropeptide hypocretin-1, 4 and it is strongly associated with HLA-DQB1*0602. Narcolepsy type 1 was traditionally known as narcolepsy-cataplexy and is a chronic disease with symptoms that include excessive daytime sleepiness, sleep attacks, sudden episodes of loss of muscle tone when awake, hypnagogic hallucinations, sleep paralysis and disrupted nocturnal sleep. The current International Classification of Sleep Disorders includes two different types of narcolepsy: narcolepsy type 1 (with hypocretin deficiency or cataplexy) and narcolepsy type 2 (without hypocretin deficiency).
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