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Narcolepsy-cataplexy, a disease of autoimmune origin
Narcolepsia-cataplejía, una enfermedad de etiología autoinmune
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The modifications considered were: addition, if other agent(s) were added to the original prescription; reduction, if the original treatment consisted of two or more agents and the discharge prescription included fewer of them; change, if the final prescription differed in at least one to all the antipyretic agents; withdrawal, if antipyretic treatment was discontinued completely; same prehospital and discharge when the antipyresis scheme was only modified during the hospital stay. 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Navarro-Abia, A.J. Pedrera-Mazarro, A. Bélanger-Quintana, J.M. Aparicio-Meix" "autores" => array:4 [ 0 => array:4 [ "nombre" => "V." "apellidos" => "Navarro-Abia" "email" => array:1 [ 0 => "virivinchi@gmail.com" ] "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] 1 => array:3 [ "nombre" => "A.J." "apellidos" => "Pedrera-Mazarro" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] 2 => array:3 [ "nombre" => "A." "apellidos" => "Bélanger-Quintana" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 3 => array:3 [ "nombre" => "J.M." "apellidos" => "Aparicio-Meix" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] ] "afiliaciones" => array:2 [ 0 => array:3 [ "entidad" => "Servicio de Pediatría, Hospital Universitario Ramón y Cajal, Madrid, Spain" "etiqueta" => "a" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Servicio de Neurofisiología, Hospital Universitario Ramón y Cajal, Madrid, Spain" "etiqueta" => "b" "identificador" => "aff0010" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Narcolepsia-cataplejía, una enfermedad de etiología autoinmune" ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">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).<a class="elsevierStyleCrossRefs" href="#bib0035"><span class="elsevierStyleSup">1,2</span></a></p><p id="par0010" class="elsevierStylePara elsevierViewall">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.<a class="elsevierStyleCrossRefs" href="#bib0040"><span class="elsevierStyleSup">2,3</span></a></p><p id="par0015" class="elsevierStylePara elsevierViewall">It has an autoimmune aetiology, the target of which is the secretion of the hypothalamic neuropeptide hypocretin-1,<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">4</span></a> and it is strongly associated with HLA-DQB1*0602.<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">5</span></a></p><p id="par0020" class="elsevierStylePara elsevierViewall">We present the case of a 9-year-old boy that was previously healthy. There was no family history of neurologic disease.</p><p id="par0025" class="elsevierStylePara elsevierViewall">The child sought care for attention deficit with a decline in academic performance lasting 3 months. He also reported chronic daytime hypersomnia punctuated with sleep attacks during which the patient dreamed. 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. In the past few weeks he had been eating more than usual.</p><p id="par0030" class="elsevierStylePara elsevierViewall">The clinical examination was normal, although the child reported sleepiness.</p><p id="par0035" class="elsevierStylePara elsevierViewall">The awake electroencephalogram and the head and hypothalamus MRIs were normal.</p><p id="par0040" class="elsevierStylePara elsevierViewall">The modified Epworth sleepiness scale was completed to assess the degree of daytime sleepiness, and the patient scored within the severe range (20/24).</p><p id="par0045" class="elsevierStylePara elsevierViewall">A 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 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. 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<span class="elsevierStyleHsp" style=""></span>pg/mL, confirming the clinical diagnosis.</p><p id="par0050" class="elsevierStylePara elsevierViewall">We finally initiated symptomatic treatment for narcolepsy, stressing the importance of proper sleep hygiene. 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. The patient reported a substantial improvement in his quality of life.</p><p id="par0055" class="elsevierStylePara elsevierViewall">Narcolepsy-cataplexy has an autoimmune origin that targets the secretion of hypocretin-1,<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">4</span></a> a neurotransmitter produced in the dorsal and lateral hypothalamus that promotes wakefulness and inhibits REM sleep. The measurement of hypocretin is a definitive diagnostic test, albeit one that must be interpreted within the appropriate clinical context.<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">3</span></a></p><p id="par0060" class="elsevierStylePara elsevierViewall">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.<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">3</span></a></p><p id="par0065" class="elsevierStylePara elsevierViewall">Although 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.<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">2</span></a></p><p id="par0070" class="elsevierStylePara elsevierViewall">Key elements of management include proper sleep hygiene practices, avoidance of substances that promote a lethargic state or increase wakefulness, and adequate psychosocial support.<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">2</span></a></p><p id="par0075" class="elsevierStylePara elsevierViewall">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.<a class="elsevierStyleCrossRef" href="#bib0060"><span class="elsevierStyleSup">6</span></a> The drug that has been used most commonly in children has been methylphenidate, which stimulates the central nervous system and promotes wakefulness.</p><p id="par0080" class="elsevierStylePara elsevierViewall">Treatment with sodium oxybate has been introduced to treat hypersomnia and cataplexy in adults, but its use in children has yet to be approved.<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">2</span></a> Traditionally, drugs that inhibit REM sleep, such as tricyclic antidepressants, have been used for this purpose. In this case, we chose imipramine due to its extensive use in the paediatric age group.</p><p id="par0085" class="elsevierStylePara elsevierViewall">Given the autoimmune aetiology of this disease, it has been suggested that early treatment with intravenous immunoglobulin could prevent the loss of hypocretin-producing neurons, although there is no objective evidence of this beneficial effect.<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">2</span></a></p><p id="par0090" class="elsevierStylePara elsevierViewall">Since it is clear that this disease has an autoimmune origin, we believe it is necessary to perform new studies with the aim of finding a replacement therapy to address the neuropeptide deficiency.</p></span>" "pdfFichero" => "main.pdf" "tienePdf" => true "fechaRecibido" => "2014-09-02" "fechaAceptado" => "2014-10-24" "NotaPie" => array:2 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as: Navarro-Abia V, Pedrera-Mazarro AJ, Bélanger-Quintana A, Aparicio-Meix JM. Narcolepsia-cataplejía, una enfermedad de etiología autoinmune. An Pediatr (Barc). 2015;82:271–272.</p>" ] 1 => array:2 [ "etiqueta" => "☆☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0010"><span class="elsevierStyleBold">Previous presentation:</span> This study was presented at the Congreso Extraordinario de la AEP 2014; June 5–7, 2014; Madrid, Spain.</p>" ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:6 [ 0 => array:3 [ "identificador" => "bib0035" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "The international classification of sleep disorders. Diagnostic and coding manual electronic version" "autores" => array:1 [ 0 => array:2 [ "colaboracion" => "American Academy of Sleep Medicine" "etal" => false ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Libro" => array:4 [ "edicion" => "3rd ed." 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| Year/Month | Html | Total | |
|---|---|---|---|
| 2024 November | 9 | 10 | 19 |
| 2024 October | 46 | 52 | 98 |
| 2024 September | 61 | 48 | 109 |
| 2024 August | 73 | 76 | 149 |
| 2024 July | 67 | 45 | 112 |
| 2024 June | 66 | 35 | 101 |
| 2024 May | 58 | 46 | 104 |
| 2024 April | 56 | 57 | 113 |
| 2024 March | 61 | 29 | 90 |
| 2024 February | 61 | 29 | 90 |
| 2024 January | 61 | 23 | 84 |
| 2023 December | 67 | 23 | 90 |
| 2023 November | 50 | 27 | 77 |
| 2023 October | 65 | 43 | 108 |
| 2023 September | 39 | 24 | 63 |
| 2023 August | 53 | 18 | 71 |
| 2023 July | 54 | 27 | 81 |
| 2023 June | 51 | 32 | 83 |
| 2023 May | 80 | 30 | 110 |
| 2023 April | 56 | 25 | 81 |
| 2023 March | 57 | 25 | 82 |
| 2023 February | 57 | 20 | 77 |
| 2023 January | 39 | 26 | 65 |
| 2022 December | 71 | 34 | 105 |
| 2022 November | 78 | 44 | 122 |
| 2022 October | 67 | 53 | 120 |
| 2022 September | 43 | 33 | 76 |
| 2022 August | 88 | 57 | 145 |
| 2022 July | 57 | 45 | 102 |
| 2022 June | 54 | 33 | 87 |
| 2022 May | 54 | 50 | 104 |
| 2022 April | 52 | 42 | 94 |
| 2022 March | 85 | 60 | 145 |
| 2022 February | 76 | 34 | 110 |
| 2022 January | 66 | 43 | 109 |
| 2021 December | 82 | 52 | 134 |
| 2021 November | 90 | 54 | 144 |
| 2021 October | 126 | 51 | 177 |
| 2021 September | 79 | 39 | 118 |
| 2021 August | 108 | 49 | 157 |
| 2021 July | 74 | 33 | 107 |
| 2021 June | 116 | 40 | 156 |
| 2021 May | 101 | 24 | 125 |
| 2021 April | 213 | 76 | 289 |
| 2021 March | 102 | 42 | 144 |
| 2021 February | 87 | 21 | 108 |
| 2021 January | 124 | 15 | 139 |
| 2020 December | 53 | 21 | 74 |
| 2020 November | 44 | 14 | 58 |
| 2020 October | 41 | 20 | 61 |
| 2020 September | 54 | 17 | 71 |
| 2020 August | 42 | 9 | 51 |
| 2020 July | 44 | 20 | 64 |
| 2020 June | 34 | 19 | 53 |
| 2020 May | 58 | 19 | 77 |
| 2020 April | 31 | 15 | 46 |
| 2020 March | 44 | 17 | 61 |
| 2020 February | 51 | 20 | 71 |
| 2020 January | 48 | 21 | 69 |
| 2019 December | 64 | 15 | 79 |
| 2019 November | 49 | 10 | 59 |
| 2019 October | 29 | 9 | 38 |
| 2019 September | 27 | 17 | 44 |
| 2019 August | 52 | 18 | 70 |
| 2019 July | 25 | 14 | 39 |
| 2019 June | 33 | 19 | 52 |
| 2019 May | 90 | 22 | 112 |
| 2019 April | 76 | 18 | 94 |
| 2019 March | 47 | 13 | 60 |
| 2019 February | 42 | 14 | 56 |
| 2019 January | 33 | 20 | 53 |
| 2018 December | 38 | 21 | 59 |
| 2018 November | 50 | 25 | 75 |
| 2018 October | 60 | 22 | 82 |
| 2018 September | 39 | 12 | 51 |
| 2018 August | 5 | 0 | 5 |
| 2018 June | 2 | 0 | 2 |
| 2018 May | 5 | 0 | 5 |
| 2018 April | 16 | 0 | 16 |
| 2018 March | 18 | 0 | 18 |
| 2018 February | 7 | 0 | 7 |
| 2018 January | 13 | 0 | 13 |
| 2017 December | 14 | 0 | 14 |
| 2017 November | 13 | 0 | 13 |
| 2017 October | 11 | 0 | 11 |
| 2017 September | 8 | 0 | 8 |
| 2017 August | 17 | 0 | 17 |
| 2017 July | 13 | 1 | 14 |
| 2017 June | 16 | 5 | 21 |
| 2017 May | 27 | 5 | 32 |
| 2017 April | 13 | 7 | 20 |
| 2017 March | 14 | 2 | 16 |
| 2017 February | 14 | 4 | 18 |
| 2017 January | 8 | 0 | 8 |
| 2016 December | 32 | 5 | 37 |
| 2016 November | 48 | 4 | 52 |
| 2016 October | 46 | 11 | 57 |
| 2016 September | 45 | 5 | 50 |
| 2016 August | 25 | 1 | 26 |
| 2016 July | 16 | 1 | 17 |
| 2016 March | 1 | 0 | 1 |
| 2016 February | 2 | 0 | 2 |
| 2015 December | 4 | 11 | 15 |
| 2015 November | 2 | 10 | 12 |
| 2015 October | 9 | 16 | 25 |
| 2015 September | 1 | 12 | 13 |
| 2015 August | 2 | 11 | 13 |
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