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Images in Paediatrics
Respiratory distress syndrome due to pulmonary hypoplasia and neonatal congenital lymphedema
Síndrome de distrés respiratorio por hipoplasia pulmonar y linfedema congénito neonatal
Julio César Moreno Alfonso
Corresponding author
juliomoreno.md@gmail.com

Corresponding author.
, Alberto Pérez Martínez, Ada Y. Molina Caballero, Carlos Bardají Pascual
Servicio de Cirugía Pediátrica, Hospital Universitario de Navarra, Pamplona, Spain
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          "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Hard&#44; cold and symmetrical oedema in legs and dorsum of feet with thickening of the dermis and ungual dysplasia &#40;arrow&#41;&#46;</p>"
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    "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">We present the case of a male newborn aged 20&#8239;h in whom prenatal examinations had been normal and with a history of congenital oedema that had not been evaluated in first-degree relatives&#46; At birth&#44; he had respiratory distress that required non-invasive ventilation and swelling of the lower extremities&#46; The physical examination revealed hard&#44; cold oedema in both legs with thickening of the skin and ungual dysplasia &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>&#41;&#44; in addition to hypoventilation in the base of the right lung&#46;</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0010" class="elsevierStylePara elsevierViewall">A chest radiograph and computed tomography scan evinced right pulmonary hypoplasia &#40;<a class="elsevierStyleCrossRef" href="#fig0010">Fig&#46; 2</a>A&#41;&#44; and a lymphoscintigraphy was requested due to suspicion of congenital lymphoedema&#44; which confirmed the absence of lymphatic vessels in the lower extremities &#40;<a class="elsevierStyleCrossRef" href="#fig0010">Fig&#46; 2</a>B&#41;&#46; The patient received a clinical diagnosis of type I congenital lymphoedema type I&#44; or Milroy disease&#46;</p><elsevierMultimedia ident="fig0010"></elsevierMultimedia><p id="par0015" class="elsevierStylePara elsevierViewall">At present&#44; at age 7 months&#44; the patient is free of respiratory symptoms and in treatment with lower extremity compression and physical therapy&#44; with a favourable response &#40;<a class="elsevierStyleCrossRef" href="#fig0015">Fig&#46; 3</a>&#41;&#46; Genetic testing is underway&#46;</p><elsevierMultimedia ident="fig0015"></elsevierMultimedia><p id="par0020" class="elsevierStylePara elsevierViewall">Milroy disease is a rare condition with an estimated incidence of 1 case per 6000 live births with a 1&#58;2&#46;3 male-to-female ratio&#46; It is caused by a variant in the <span class="elsevierStyleItalic">VEGFR3</span> gene encoding the vascular endothelial growth factor receptor 3&#44; resulting in aplasia or dysplasia of lymphatic vessels&#46;<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a> It manifests as congenital progressive oedema in the lower extremities&#44; in isolation or as part of a syndrome&#46;<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a> Although it is infrequent and it is still unclear what it is associated with&#44; the presence of congenital lymphoedema must prompt an investigation of the family history and a lymphatic and genetic evaluation&#46;<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a> Appropriate multidisciplinary treatment may prevent progression to functional limitations&#44; complications and sequelae&#46; In selected cases refractory to conservative treatment&#44; surgical treatment with vascularized lymph node transfer is a possible alternative that has achieved good results in recent case series&#46;<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">4</span></a></p><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Funding</span><p id="par0025" class="elsevierStylePara elsevierViewall">This research did not receive any external funding&#46;</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Conflicts of interest</span><p id="par0030" class="elsevierStylePara elsevierViewall">The authors have no conflicts of interest to declare&#46;</p></span></span>"
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