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Esophageal diffuse spasms in patient with Pompe disease
Espasmos esofágicos en paciente con enfermedad de Pompe
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"apellidos" => "Milisenda" "email" => array:1 [ 0 => "jcmilise@clinic.cat" ] "referencia" => array:4 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff1" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0005" ] 2 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">c</span>" "identificador" => "aff0015" ] 3 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] ] "afiliaciones" => array:3 [ 0 => array:3 [ "entidad" => "Hospital Clínic Barcelona (A.U.), University of Barcelona, Barcelona, Spain" "etiqueta" => "a" "identificador" => "aff1" ] 1 => array:3 [ "entidad" => "Muscle Research Unit, Internal Medicine Service, Hospital Clínic de Barcelona, Barcelona, Spain" "etiqueta" => "b" "identificador" => "aff0005" ] 2 => array:3 [ "entidad" => "CIBERER, Spain" "etiqueta" => "c" "identificador" => "aff0015" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Espasmos esofágicos en paciente con enfermedad de Pompe" ] ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:6 [ "identificador" => "fig0005" "etiqueta" => "Fig. 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 653 "Ancho" => 1305 "Tamanyo" => 86712 ] ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">Pompe disease is a multisystemic metabolic disorder caused by a deficiency of lysosomal acid alpha-glucosidase (GAA) leading to progressive accumulation of lysosomal glycogen, lysosomal swelling and rupture in all tissues of the human body. The clinical spectrum is continuous and broad. The implication of smooth muscle in gastrointestinal related symptoms in patients with Pompe disease has already been studied, as well as the limitations of enzyme replacement therapy (ERT). These figures expose the esophageal involvement in a female patient of 70 years old with late-onset POMPE disease (LOPD) with low GAA enzyme activity level, 0.25<span class="elsevierStyleHsp" style=""></span>μmol (0.31–3.31) in the dry blood spot test with 18% of GAA activity in leukocytes, and she has been on treatment with ERT for the last six years. The images are from the esophagogram study after one year of progressive dysphagia to solids. On the thoracic esophagus appears diffuse esophageal spasms that produce the typical image known as “corkscrew” or “rosary bead” because of smooth muscle involvement (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a> front view [A] and lateral view [B]).</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Funding</span><p id="par0010" class="elsevierStylePara elsevierViewall">No targeted funding reported.</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Conflict of interest</span><p id="par0015" class="elsevierStylePara elsevierViewall">The authors report no disclosures relevant to the manuscript.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:2 [ 0 => array:2 [ "identificador" => "sec0005" "titulo" => "Funding" ] 1 => array:2 [ "identificador" => "sec0010" "titulo" => "Conflict of interest" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "multimedia" => array:1 [ 0 => array:6 [ "identificador" => "fig0005" "etiqueta" => "Fig. 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 653 "Ancho" => 1305 "Tamanyo" => 86712 ] ] ] ] ] "idiomaDefecto" => "en" "url" => "/00257753/0000015800000011/v1_202206040548/S0025775322000045/v1_202206040548/en/main.assets" "Apartado" => array:4 [ "identificador" => "64289" "tipo" => "SECCION" "es" => array:2 [ "titulo" => "Imágenes médicas" "idiomaDefecto" => true ] "idiomaDefecto" => "es" ] "PDF" => "https://static.elsevier.es/multimedia/00257753/0000015800000011/v1_202206040548/S0025775322000045/v1_202206040548/en/main.pdf?idApp=UINPBA00004N&text.app=https://www.elsevier.es/" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0025775322000045?idApp=UINPBA00004N" ]
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