• 2018-07
  • 2018-10
  • 2018-11
  • The etiology was considered idiopathic in


    The etiology was considered idiopathic in all cases, based on the high number of complementary exams performed. In the 6 cases in whom the anti-streptolysin-O levels was obtained, only one demonstrated a mildly high level, which does not support the hypothesis of streptococcal infection as a main triggering factor. In the case where the anti-influenza H1N1 vaccination was performed, we can only wonder about its influence since it is not possible to conclude about a correlation favoring a cause and effect relationship [24]. During consultation, all children had BMI ≥75th percentile and, despite nutritional advice, there was still a further 50% increase afterwards. The prevalence of obesity/weight gain was similar to the one described by Poli [15], although his study refers only to patients with NC. However, unlike the mentioned study, our work did not show more early-onset weight gain among the patients with NC, which may be due to the small size of the sample. The connection between an increased weight gain and the onset of cataplexy described by Nevsimalova [13] was also verified in our sample. The presence of the allele HLA DQB1*06:02 was verified in all cases, confirming the strong association with narcolepsy described for this allele [2,3,24,25], especially when cataplexy is present. About 99% of the patients with NC are HLA DQB1*06:02 positive. Moreover, we confirmed 7 positive HLA DRB1*15 cases. The association of these 2 have to happen to you is present in 75–90% of the Caucasian NC [1,6] and it increases the probability of severe EDS [6]. Three of the cases of our series did not have cataplexy, but it may still manifest itself in the future, as it is a symptom that appears within months to several years after EDS [13]. The hypocretin-1 dosage in the CSF, whose availability is recent in our country, was performed only in one case, and the result was low. Low or undetectable values are usually found in patients with NC [6] or may even precede the onset of cataplexy [13]. Its dosage may be useful in some difficult cases, such as when the MSLT is inconclusive [14]. The medication used is mainly directed to EDS and cataplexy. Currently, one of the first-line treatments of EDS in adults with narcolepsy is modafinil. Its usage in children seems to be safe (though few studies were performed) [10] but it is not approved yet and so it is scarcely used. In all cases, we used methylphenidate and, in 4 of them, venlafaxine was associated for cataplexy control, with a good response. The gradual increase of dosage was determined by the clinical responses. Sodium oxybate, used for the simultaneous control of EDS and cataplexy, is not available in our country yet. Narcolepsy in children is rare and Haversian canal is one of the most often underdiagnosed diseases [13]. Excessive Daytime Sleepiness is commonly the initial symptom of the disorder and may remain isolated for a long time, although with developmental repercussions. Decreasing diagnostic delay is a primary target for psychosomatic morbidity reduction. A family physician may work his whole life without seeing a single case of narcolepsy and even less in a child. It seems important to increase the awareness of health and educational professional communities for this disease.
    Introduction Narcolepsy with cataplexy is the most common type of central hypersomnia and is usually defined as a syndrome characterized by excessive daytime sleepiness (EDS), cataplexy, hypnagogic or hypnopompic hallucinations, sleep paralysis and disturbed nocturnal sleep [1]. Inability to remain fully alert is frequently the major problem for narcoleptic patients, which persistently affects their lives on a daily basis. Paradoxically adequate nighttime sleep continuity is not easy to achieve for those individuals [2]. Also not necessarily present, narcolepsy often occurs with a transient loss of muscle tone triggered by emotional stimuli (catapletic attack). Therefore, diagnosis is based on clinical criteria confirmed by polysomnographic study followed by a multiple sleep latency test (MSLT) [3]. Although it can affect any age, the peak age of onset is the second decade of life with a reported incidence of 3.84/100,000 person years [4]. Narcolepsy onset is rare after age of 55 or prior to age 10 [5] but the interval between onset and diagnosis can be longer than 10 years [6], making it sometimes difficult to establish the exact time of onset. Diagnostic delay is however less common when cataplexy is present and in younger patients [7]. Hypocretin, a neuropeptide originating from the hypothalamus, has been involved in the pathogenesis of narcolepsy with lower or undetectable levels of cerebrospinal fluid hypocretin-1 in most narcoleptic patients with cataplexy. Furthermore, there is a strong association with human leukocyte antigen (HLA) DQB1⁎0602, which is involved in the control of the hypocretin receptor. More recently, associations with environmental factors such as streptococcal infection [8], seasonal influenza [9] and A/H1N1 2009 influenza [10] were reported and studied.