Letter to the Editor
Apert Syndrome and Sleep Apnea
Síndrome de Apert y apnea de sueño
Pedro Landete, Patricia Pérez-Ferrer, Eusebi Chiner
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Sección de Neumología, Hospital Universitario San Juan de Alicante, San Juan de Alicante, Alicante, Spain
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(C) Syndactyly and sclerodactyly. (D) Patient's baseline polysomnography showing predominance of obstructive apneas and recording from autoCPAP connected to the polygraph flow channels.</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">Apert syndrome is a rare variant of craniosynostosis, characterized by premature fusion of the cranial sutures, causing physical and mental health problems in patients from an early age.<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a> During the course of the disease, patients may develop obstructive sleep apnea syndrome (OSAS), due to their various craniofacial abnormalities. We present a case of Apert syndrome with OSAS treated satisfactorily with CPAP, which has not been previously reported in the Spanish literature.</p><p id="par0010" class="elsevierStylePara elsevierViewall">A 6-year-old girl, diagnosed with craniosynostosis and sclerodactyly of the hands and feet, who had undergone surgery at the age of 3 for cleft palate and craniostomy, followed up in the pediatric and children's trauma departments. She was referred to the Respiratory Medicine clinic with a report from her teacher saying that in recent weeks she had been falling asleep, not only in class, as was usual, but also at mealtimes, and the food had to be taken out of her mouth after she fell asleep at the table. It was very difficult to keep her awake or to wake her if she had fallen asleep, and on occasions she had even fallen asleep standing up. The mother reported that the child slept a lot but poorly, had snored from birth and slept almost 20<span class="elsevierStyleHsp" style=""></span>h a day, going to bed at 19:00<span class="elsevierStyleHsp" style=""></span>h and waking frequently, with repeated periods of asphyxia.</p><p id="par0015" class="elsevierStylePara elsevierViewall">Physical examination revealed short stature, ridging along the cranial sutures, with a advanced coronal suture fused at the join of the orbit, prominent, bulging eyes, underdeveloped midface with maxillary hypoplasia, crowded teeth and high-arched palate (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>A and B), Mallampati score 4 with no hypertrophy of the tonsils. Scarring secondary to surgery performed at 10 months for syndactyly with membranes and proximal and mid-phalanges fused in the hands, along with pollex varus and hallux varus in the feet (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>C). The patient was very sleepy throughout the examination and even fell asleep on the chair in the consulting room. A diagnostic polysomnography showed: recording time 534<span class="elsevierStyleHsp" style=""></span>min (m), total sleep time 458.5<span class="elsevierStyleHsp" style=""></span>m, sleep latency 0.5<span class="elsevierStyleHsp" style=""></span>m, sleep efficiency 85.9%, N1 21.2%, N2 73%, N3 5.9%, REM 0%, arousal index 73.2<span class="elsevierStyleHsp" style=""></span>h<span class="elsevierStyleSup">−1</span>, 669 respiratory events recorded, with 331 predominantly obstructive apneas, apnea and hypopnea index 87.5<span class="elsevierStyleHsp" style=""></span>h<span class="elsevierStyleSup">−1</span>, 500 snores (10.4%), mean SaO<span class="elsevierStyleInf">2</span> 86%, minimum SaO<span class="elsevierStyleInf">2</span> 64% and desaturation index 96.1<span class="elsevierStyleHsp" style=""></span>h<span class="elsevierStyleSup">−1</span>. The following day CPAP was initiated at 5<span class="elsevierStyleHsp" style=""></span>cmH<span class="elsevierStyleInf">2</span>O with an oronasal mask, and an appointment was made one week later for adaptation and titration with the hospital auto-CPAP (REMstar Auto Intl Respironics<span class="elsevierStyleSup">®</span>), connected to the polygraph flow channels, obtaining an apnea and hypopnea index of 5<span class="elsevierStyleHsp" style=""></span>h<span class="elsevierStyleSup">−1</span> with pressures between 10 and 15<span class="elsevierStyleHsp" style=""></span>cmH<span class="elsevierStyleInf">2</span>O, with complete resolution of snoring, and a 90th percentile of 14<span class="elsevierStyleHsp" style=""></span>cmH<span class="elsevierStyleInf">2</span>O (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>D).</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0020" class="elsevierStylePara elsevierViewall">She commenced treatment with an auto-CPAP, with an oronasal mask due to the high pressures required. Adaptation and compliance was very good. Three months later, the patient showed great clinical improvement: she no longer had daytime sleepiness and was active, able to talk and attend school practically normally, changing the CPAP interface to a nasal mask.</p><p id="par0025" class="elsevierStylePara elsevierViewall">Craniosynostosis can be classified as isolated or syndromic. Within the syndromic presentations, the most common and well-known are Crouzon, Saethre-Chotzen, Pfeiffer and Muenke syndrome, and Crouzon syndrome with ancanthosis nigricans.<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a> They are caused by a mutation in fibroblast growth factors during the formation of the gametes and alterations in the FGRFR1 and FGRF42 genes in patients with Crouzon, Apert and Pfeiffer syndromes, the TWIST gene in Saethre-Chotzen syndrome and the FGFR gene in Muenke syndrome.<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a> Transmission is autosomal dominant, but sporadic mutations exist in non-affected parents.<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a> The incidence is 1.2 per 100<span class="elsevierStyleHsp" style=""></span>000 live births. Apert syndrome is characterized by premature closure of the cranial sutures in a pointed shape, deforming the facial architecture and subsequently producing functional changes with a wide spectrum of clinical variability.<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1,4</span></a> Although it has not been studied in depth, approximately 40% of cases develop OSAS, mainly due to midface hypoplasia,<a class="elsevierStyleCrossRefs" href="#bib0010"><span class="elsevierStyleSup">2,3</span></a> but it may also be associated with changes in the laryngopharynx or larynx, tracheobronchomalacia and other abnormalities which contribute to OSAS.<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a> If left untreated, OSAS may lead to sleep fragmentation, recurrent infections, growth and developmental delay, altered cognitive functions, cor pulmonale or sudden death,<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a> so a polysomnography study<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">4</span></a> must be carried out, as must endoscopy of the airways, since obstruction has been observed at several levels.<a class="elsevierStyleCrossRefs" href="#bib0010"><span class="elsevierStyleSup">2,3,5,6</span></a> Treatment of moderate to severe OSAS in patients with craniosynostosis is complicated and difficult, because CPAP not only must be administered at very high pressures, as in our case, but must also be initiated at an early age, and will probably have to be for life. In addition, adenotonsillectomy may be required, along with orthodontics and maxillary surgery,<a class="elsevierStyleCrossRefs" href="#bib0005"><span class="elsevierStyleSup">1,2,3,6</span></a> all of which must be adapted in line with the patient's growth.</p></span>" "pdfFichero" => "main.pdf" "tienePdf" => true "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as: Landete P, et al. Síndrome de Apert y apnea de sueño. Arch Bronconeumol. 2013;49:364–5.</p>" ] ] "multimedia" => array:1 [ 0 => array:7 [ "identificador" => "fig0005" "etiqueta" => "Fig. 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 1877 "Ancho" => 2500 "Tamanyo" => 516536 ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">(A and B) Characteristic facies of Apert syndrome with facial hypoplasia. (C) Syndactyly and sclerodactyly. (D) Patient's baseline polysomnography showing predominance of obstructive apneas and recording from autoCPAP connected to the polygraph flow channels.</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:6 [ 0 => array:3 [ "identificador" => "bib0005" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Long-term functional outcome in 167 patients with syndromic craneosynostosis; defining a syndrome-specific risk profile" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "T. Jong" 1 => "N. Bannink" 2 => "H. Bredero-Boelhouwer" 3 => "M. van Veelen" 4 => "N. Bartels" 5 => "L. 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| Year/Month | Html | Total | |
|---|---|---|---|
| 2024 November | 6 | 4 | 10 |
| 2024 October | 93 | 34 | 127 |
| 2024 September | 92 | 20 | 112 |
| 2024 August | 112 | 42 | 154 |
| 2024 July | 78 | 27 | 105 |
| 2024 June | 88 | 25 | 113 |
| 2024 May | 78 | 29 | 107 |
| 2024 April | 80 | 29 | 109 |
| 2024 March | 57 | 15 | 72 |
| 2024 February | 35 | 23 | 58 |
| 2023 March | 10 | 4 | 14 |
| 2023 February | 48 | 22 | 70 |
| 2023 January | 53 | 32 | 85 |
| 2022 December | 67 | 47 | 114 |
| 2022 November | 62 | 32 | 94 |
| 2022 October | 60 | 41 | 101 |
| 2022 September | 39 | 35 | 74 |
| 2022 August | 50 | 50 | 100 |
| 2022 July | 58 | 51 | 109 |
| 2022 June | 43 | 44 | 87 |
| 2022 May | 53 | 49 | 102 |
| 2022 April | 99 | 34 | 133 |
| 2022 March | 80 | 61 | 141 |
| 2022 February | 69 | 39 | 108 |
| 2022 January | 69 | 45 | 114 |
| 2021 December | 54 | 52 | 106 |
| 2021 November | 63 | 47 | 110 |
| 2021 October | 75 | 45 | 120 |
| 2021 September | 37 | 48 | 85 |
| 2021 August | 44 | 38 | 82 |
| 2021 July | 24 | 23 | 47 |
| 2021 June | 58 | 43 | 101 |
| 2021 May | 55 | 28 | 83 |
| 2021 April | 96 | 91 | 187 |
| 2021 March | 63 | 27 | 90 |
| 2021 February | 50 | 26 | 76 |
| 2021 January | 44 | 17 | 61 |
| 2020 December | 41 | 36 | 77 |
| 2020 November | 51 | 15 | 66 |
| 2020 October | 46 | 26 | 72 |
| 2020 September | 55 | 15 | 70 |
| 2020 August | 50 | 23 | 73 |
| 2020 July | 49 | 23 | 72 |
| 2020 June | 45 | 12 | 57 |
| 2020 May | 58 | 20 | 78 |
| 2020 April | 44 | 25 | 69 |
| 2020 March | 40 | 19 | 59 |
| 2020 February | 44 | 17 | 61 |
| 2020 January | 45 | 18 | 63 |
| 2019 December | 70 | 23 | 93 |
| 2019 November | 57 | 23 | 80 |
| 2019 October | 54 | 10 | 64 |
| 2019 September | 53 | 22 | 75 |
| 2019 August | 69 | 21 | 90 |
| 2019 July | 55 | 14 | 69 |
| 2019 June | 37 | 11 | 48 |
| 2019 May | 68 | 22 | 90 |
| 2019 April | 75 | 18 | 93 |
| 2019 March | 70 | 19 | 89 |
| 2019 February | 58 | 17 | 75 |
| 2019 January | 54 | 18 | 72 |
| 2018 December | 53 | 13 | 66 |
| 2018 November | 85 | 21 | 106 |
| 2018 October | 94 | 14 | 108 |
| 2018 September | 78 | 10 | 88 |
| 2018 May | 36 | 1 | 37 |
| 2018 April | 61 | 11 | 72 |
| 2018 March | 66 | 2 | 68 |
| 2018 February | 45 | 6 | 51 |
| 2018 January | 98 | 8 | 106 |
| 2017 December | 87 | 5 | 92 |
| 2017 November | 39 | 3 | 42 |
| 2017 October | 50 | 10 | 60 |
| 2017 September | 38 | 5 | 43 |
| 2017 August | 56 | 7 | 63 |
| 2017 July | 64 | 9 | 73 |
| 2017 June | 82 | 8 | 90 |
| 2017 May | 65 | 8 | 73 |
| 2017 April | 53 | 7 | 60 |
| 2017 March | 53 | 1 | 54 |
| 2017 February | 37 | 2 | 39 |
| 2017 January | 24 | 6 | 30 |
| 2016 December | 37 | 6 | 43 |
| 2016 November | 49 | 18 | 67 |
| 2016 October | 58 | 22 | 80 |
| 2016 September | 84 | 15 | 99 |
| 2016 August | 53 | 8 | 61 |
| 2016 July | 34 | 23 | 57 |
| 2016 March | 1 | 0 | 1 |
| 2016 February | 2 | 0 | 2 |
| 2015 December | 3 | 0 | 3 |
| 2015 October | 62 | 3 | 65 |
| 2015 September | 41 | 12 | 53 |
| 2015 August | 39 | 4 | 43 |
| 2015 July | 62 | 12 | 74 |
| 2015 June | 38 | 6 | 44 |
| 2015 May | 40 | 9 | 49 |
| 2015 April | 33 | 9 | 42 |
| 2015 March | 45 | 7 | 52 |
| 2015 February | 33 | 8 | 41 |
| 2015 January | 42 | 9 | 51 |
| 2014 December | 28 | 10 | 38 |
| 2014 November | 46 | 7 | 53 |
| 2014 October | 87 | 12 | 99 |
| 2014 September | 33 | 11 | 44 |
| 2014 August | 38 | 12 | 50 |
| 2014 July | 35 | 12 | 47 |
| 2014 June | 44 | 16 | 60 |
| 2014 May | 53 | 13 | 66 |
| 2014 April | 52 | 11 | 63 |
| 2014 March | 59 | 19 | 78 |
| 2014 February | 52 | 14 | 66 |
| 2014 January | 42 | 15 | 57 |
| 2013 December | 37 | 9 | 46 |
| 2013 November | 38 | 10 | 48 |
| 2013 September | 0 | 3 | 3 |
| 2013 August | 2 | 3 | 5 |
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