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during which partial right upper lobe atelectasis was detected on the chest X-ray and foramen magnum stenosis with compression of the cervicomedullary junction on the brain MRI&#44; requiring surgery at age 2 months&#46;</p><p id="par0015" class="elsevierStylePara elsevierViewall">At this time&#44; the evaluation was extended with performance of echocardiography&#44; which detected mild tricuspid regurgitation&#44; and genetic testing with trio exome sequencing to assess for neurologic disorders&#44; with identification of a de novo likely pathogenic variant &#40;<span class="elsevierStyleItalic">c&#46;821G&#62;A</span>&#41; in the <span class="elsevierStyleItalic">MAP3K7</span> gene associated with CPFC syndrome that encompasses growth retardation&#44; facial dysmorphic features&#44; hypotonia&#44; feeding difficulties&#44; heart disease and malformations involving the cervical spine&#46;<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a></p><p id="par0020" class="elsevierStylePara elsevierViewall">In the first year of life&#44; she exhibited chronic respiratory symptoms including daily wet cough and rhinitis and recurrent respiratory tract infections manifesting with bronchitis&#44; cold symptoms and bilateral chronic serous otitis media&#46; The salient findings of the physical examination were persistent abnormal lung sounds with bilateral wet rales&#44; chest retractions and tachypnoea with a normal oxygen saturation&#46; She also had oropharyngeal dysphagia diagnosed by video fluoroscopy&#44; with impaired swallowing and poor weight gain &#40;2nd percentile&#41;&#44; due to which she required tube feeding until age 5 months&#46;</p><p id="par0025" class="elsevierStylePara elsevierViewall">Due to suspicion of chronic aspiration syndrome secondary to dysphagia possibly associated with gastro-oesophageal reflux &#40;the latter subsequently ruled out by pH-metry&#41;&#44; a CT scan of the lungs was performed that revealed subsegmental atelectasis in the middle lobe and lingula with small areas of bronchiectasis and mild peribronchovascular thickening predominantly involving the lower lobes &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>&#41;&#46; These findings motivated performance of flexible bronchoscopy&#44; which evinced an abundance of mucus throughout the bronchial tree&#44; and with collection of a bronchoalveolar lavage sample that was positive for <span class="elsevierStyleItalic">Haemophilus influenzae&#46;</span> The treatment consisted of inhaled and nasal budesonide&#44; nebulised hypertonic saline solution&#44; respiratory physical therapy and oral azithromycin 3 days a week&#46;</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0030" class="elsevierStylePara elsevierViewall">The respiratory problems in the patient&#44; given the few respiratory complications associated with CPFC syndrome&#44; motivated the consideration of alternative diagnoses manifesting with bronchiectasis&#44; such as cystic fibrosis or PCD&#46; Although the results of newborn screening with immunoreactive trypsinogen were normal&#44; a sweat test was conducted&#44; which also had normal results&#46; The trio exome sequencing results were re-evaluated&#44; with identification of the homozygous variant <span class="elsevierStyleItalic">c&#46;246&#43;1G&#62;C</span> in the <span class="elsevierStyleItalic">ODAD4</span> or <span class="elsevierStyleItalic">TTC25</span> gene&#44; associated with PCD&#44; that encodes the outer dynein arm and results in severe impairment of ciliary movement&#46;<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a></p><p id="par0035" class="elsevierStylePara elsevierViewall">The patient was referred to the PCD reference unit&#44; where the diagnosis was confirmed by the absence of ciliary movement &#40;static cilia&#41; on high-speed video microscopy&#44; the decreased concentration of nasal nitric oxide &#40;nNO&#41; of 13&#46;2 nL&#47;min during tidal breathing and absence of DNAH5 staining in most ciliated cells on immunofluorescence &#40;<a class="elsevierStyleCrossRef" href="#fig0010">Fig&#46; 2</a>&#41;&#46;</p><elsevierMultimedia ident="fig0010"></elsevierMultimedia><p id="par0040" class="elsevierStylePara elsevierViewall">Primary ciliary dyskinesia results from a structural defect in ciliary cells present in the respiratory system and gonads resulting in impaired ciliary movement and decreased mucociliary clearance&#44; which in turn increases the risk of respiratory infection&#46; In most cases&#44; it follows an autosomal recessive pattern of inheritance&#44; with more than 50 variants reported to date&#44;<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a> and is associated with respiratory tract and otic&#44; nasal and laryngeal manifestations&#44; sterility&#44; ectopic pregnancy and&#44; in 50&#37; of cases&#44; situs inversus with dextrocardia&#46; On imaging&#44; it manifests with peribronchial thickening with atelectasis or bronchiectasis&#46;<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">4</span></a></p><p id="par0045" class="elsevierStylePara elsevierViewall">The diagnosis is based on screening with nNO &#40;usually decreased&#41; and confirmed by electron microscopy &#40;ultrastructural abnormalities&#41;&#44; immunofluorescence&#44; high-speed video microscopy &#40;ciliary beat pattern and frequency&#41; and genetic testing&#46;<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a> The management is based on the improvement of mucociliary clearance by means of respiratory physical therapy&#44; aerobic exercise and mucolytic agents &#40;nebulised hypertonic saline solution&#41;&#59; control of respiratory infections &#40;oral or intravenous treatment in respiratory exacerbations and nebulised antibiotherapy&#41; and anti-inflammatory drugs&#44; such as oral azithromycin&#46;<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">6</span></a></p><p id="par0050" class="elsevierStylePara elsevierViewall">In conclusion&#44; we want to underscore the importance of ruling out the presence of additional diseases in all patients with a confirmed syndrome diagnosis whose course of disease or clinical features do not fit the typical phenotype of the disease&#44; as was the case in our patient&#46;</p><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">CRediT authorship contribution statement</span><p id="par0055" class="elsevierStylePara elsevierViewall">All authors participating in the writing of the manuscript&#46;</p></span></span>"
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Scientific Letter
Primary ciliary dyskinesia: additional diagnosis in a patient with cardiospondylocarpofacial syndrome
Discinesia ciliar primaria: diagnóstico adicional en una paciente con síndrome cardio-espondilo-carpo-facial
Patricia Morte-Coscolína,
Corresponding author
pmortec@salud.aragon.es

Corresponding author.
, Sandra Rovira-Amigob,c, Carlos Martín-de Vicented
a Servicio de Pediatría, Hospital Universitario Miguel Servet, Zaragoza, Spain
b Sección de Alergología Pediátrica, Neumología Pediátrica y Fibrosis Quística, Hospital Universitari Vall d’Hebron, Barcelona, Spain
c CIBER de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain
d Unidad de Neumología Pediátrica, Hospital Universitario Miguel Servet, Zaragoza, Spain
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    "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">Primary ciliary dyskinesia &#40;PCD&#41; and cardiospondylocarpofacial &#40;CPFC&#41; syndrome belong to the group of rare diseases owing to their very low prevalence in the population &#40;1&#47;7554 for PCD and &#60;1&#47;1 000 000 for CPFC syndrome&#41;&#46; We present the case of a girl with an initial genetic diagnosis of SCECF who&#44; due to worsening respiratory manifestations and the development of bronchiectasis received a diagnosis of SCPD at a later time&#46;</p><p id="par0010" class="elsevierStylePara elsevierViewall">The girl&#44; currently aged 3 years&#44; presented with a peculiar phenotype at birth &#40;bulging forehead&#44; flat philtrum&#44; low-set ears&#44; broad neck&#41; and symptoms including generalised hypotonia&#44; feeding difficulty&#44; tachypnoea&#44; chronic rhinitis and respiratory acidosis&#46; She remained hospitalised for the first 3 months post birth&#44; during which partial right upper lobe atelectasis was detected on the chest X-ray and foramen magnum stenosis with compression of the cervicomedullary junction on the brain MRI&#44; requiring surgery at age 2 months&#46;</p><p id="par0015" class="elsevierStylePara elsevierViewall">At this time&#44; the evaluation was extended with performance of echocardiography&#44; which detected mild tricuspid regurgitation&#44; and genetic testing with trio exome sequencing to assess for neurologic disorders&#44; with identification of a de novo likely pathogenic variant &#40;<span class="elsevierStyleItalic">c&#46;821G&#62;A</span>&#41; in the <span class="elsevierStyleItalic">MAP3K7</span> gene associated with CPFC syndrome that encompasses growth retardation&#44; facial dysmorphic features&#44; hypotonia&#44; feeding difficulties&#44; heart disease and malformations involving the cervical spine&#46;<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a></p><p id="par0020" class="elsevierStylePara elsevierViewall">In the first year of life&#44; she exhibited chronic respiratory symptoms including daily wet cough and rhinitis and recurrent respiratory tract infections manifesting with bronchitis&#44; cold symptoms and bilateral chronic serous otitis media&#46; The salient findings of the physical examination were persistent abnormal lung sounds with bilateral wet rales&#44; chest retractions and tachypnoea with a normal oxygen saturation&#46; She also had oropharyngeal dysphagia diagnosed by video fluoroscopy&#44; with impaired swallowing and poor weight gain &#40;2nd percentile&#41;&#44; due to which she required tube feeding until age 5 months&#46;</p><p id="par0025" class="elsevierStylePara elsevierViewall">Due to suspicion of chronic aspiration syndrome secondary to dysphagia possibly associated with gastro-oesophageal reflux &#40;the latter subsequently ruled out by pH-metry&#41;&#44; a CT scan of the lungs was performed that revealed subsegmental atelectasis in the middle lobe and lingula with small areas of bronchiectasis and mild peribronchovascular thickening predominantly involving the lower lobes &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>&#41;&#46; These findings motivated performance of flexible bronchoscopy&#44; which evinced an abundance of mucus throughout the bronchial tree&#44; and with collection of a bronchoalveolar lavage sample that was positive for <span class="elsevierStyleItalic">Haemophilus influenzae&#46;</span> The treatment consisted of inhaled and nasal budesonide&#44; nebulised hypertonic saline solution&#44; respiratory physical therapy and oral azithromycin 3 days a week&#46;</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0030" class="elsevierStylePara elsevierViewall">The respiratory problems in the patient&#44; given the few respiratory complications associated with CPFC syndrome&#44; motivated the consideration of alternative diagnoses manifesting with bronchiectasis&#44; such as cystic fibrosis or PCD&#46; Although the results of newborn screening with immunoreactive trypsinogen were normal&#44; a sweat test was conducted&#44; which also had normal results&#46; The trio exome sequencing results were re-evaluated&#44; with identification of the homozygous variant <span class="elsevierStyleItalic">c&#46;246&#43;1G&#62;C</span> in the <span class="elsevierStyleItalic">ODAD4</span> or <span class="elsevierStyleItalic">TTC25</span> gene&#44; associated with PCD&#44; that encodes the outer dynein arm and results in severe impairment of ciliary movement&#46;<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a></p><p id="par0035" class="elsevierStylePara elsevierViewall">The patient was referred to the PCD reference unit&#44; where the diagnosis was confirmed by the absence of ciliary movement &#40;static cilia&#41; on high-speed video microscopy&#44; the decreased concentration of nasal nitric oxide &#40;nNO&#41; of 13&#46;2 nL&#47;min during tidal breathing and absence of DNAH5 staining in most ciliated cells on immunofluorescence &#40;<a class="elsevierStyleCrossRef" href="#fig0010">Fig&#46; 2</a>&#41;&#46;</p><elsevierMultimedia ident="fig0010"></elsevierMultimedia><p id="par0040" class="elsevierStylePara elsevierViewall">Primary ciliary dyskinesia results from a structural defect in ciliary cells present in the respiratory system and gonads resulting in impaired ciliary movement and decreased mucociliary clearance&#44; which in turn increases the risk of respiratory infection&#46; In most cases&#44; it follows an autosomal recessive pattern of inheritance&#44; with more than 50 variants reported to date&#44;<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a> and is associated with respiratory tract and otic&#44; nasal and laryngeal manifestations&#44; sterility&#44; ectopic pregnancy and&#44; in 50&#37; of cases&#44; situs inversus with dextrocardia&#46; On imaging&#44; it manifests with peribronchial thickening with atelectasis or bronchiectasis&#46;<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">4</span></a></p><p id="par0045" class="elsevierStylePara elsevierViewall">The diagnosis is based on screening with nNO &#40;usually decreased&#41; and confirmed by electron microscopy &#40;ultrastructural abnormalities&#41;&#44; immunofluorescence&#44; high-speed video microscopy &#40;ciliary beat pattern and frequency&#41; and genetic testing&#46;<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a> The management is based on the improvement of mucociliary clearance by means of respiratory physical therapy&#44; aerobic exercise and mucolytic agents &#40;nebulised hypertonic saline solution&#41;&#59; control of respiratory infections &#40;oral or intravenous treatment in respiratory exacerbations and nebulised antibiotherapy&#41; and anti-inflammatory drugs&#44; such as oral azithromycin&#46;<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">6</span></a></p><p id="par0050" class="elsevierStylePara elsevierViewall">In conclusion&#44; we want to underscore the importance of ruling out the presence of additional diseases in all patients with a confirmed syndrome diagnosis whose course of disease or clinical features do not fit the typical phenotype of the disease&#44; as was the case in our patient&#46;</p><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">CRediT authorship contribution statement</span><p id="par0055" class="elsevierStylePara elsevierViewall">All authors participating in the writing of the manuscript&#46;</p></span></span>"
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          "en" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Immunofluorescence analysis of ciliary axoneme proteins in a specimen of ciliated epithelium obtained from the patient and a control specimen&#46; Subcellular location of ciliary axoneme proteins DNAH5&#44; DNALI1&#44; GAS8 and RSPH9 &#40;in red&#41;&#44; and acetylated &#945;-tubulin &#40;Ac&#945;TUB&#44; in green&#41;&#46; The third column shows the merged channels with the nuclei stained with DAPI &#40;in blue&#41;&#46; DNAH5 is absent from the ciliary axoneme of the patient&#8217;s sample compared to the control sample&#46; Scale bar&#58; 5 &#956;m&#46;</p>"
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ISSN: 23412879
Original language: English
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