Image in medicine
Bone lesions in Erdheim-Chester disease
Lesiones óseas en enfermedad de Erdheim-Chester
a Servicio de Hematología, ICO – Hospital Germans Trias i Pujol, Institut de Recerca Josep Carreras, Universidad Autónoma de Barcelona, Badalona, Barcelona, Spain
b Servicio de Radiodiagnóstico, Hospital Germans Trias i Pujol, Badalona, Barcelona, Spain
c Servicio de Neurología, Hospital Germans Trias i Pujol, Badalona, Barcelona, Spain
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A pineal cyst was observed on a brain MRI, with no other findings.</p><p id="par0010" class="elsevierStylePara elsevierViewall">The images from a serial bone scan showed increased density of the medullary bone and cortical thickening of the distal half of the diaphysis and metaphysis of both femurs, and of the proximal diaphysis of both tibiae. The findings were symmetrical and no epiphyses involvement (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>). Subsequently, a bone scintigraphy was performed, which showed an increase in osteoblastic activity in the sites described (<a class="elsevierStyleCrossRef" href="#fig0010">Fig. 2</a>).</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><elsevierMultimedia ident="fig0010"></elsevierMultimedia><p id="par0015" class="elsevierStylePara elsevierViewall">A tibia bone biopsy was performed, which showed extensive fibrosis with osteosclerosis and the presence of histiocytic cells, positive for CD68 and negative for CD1a. A <span class="elsevierStyleItalic">BRAF</span> V600 mutation was detected.</p><p id="par0020" class="elsevierStylePara elsevierViewall">The diagnosis of Erdheim-Chester disease, histiocytosis that usually affects the diaphysis and metaphysis of long bones was made. Although the most common neurological involvement is infiltration of the neurohypophysis, which triggers diabetes insipidus, in some cases it can present with clinical signs of cerebellar degeneration without evidence of infiltration on imaging tests, as was the case here.</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: Cañamero E, Pérez R, Álvarez R, Navarro JT. Lesiones óseas en enfermedad de Erdheim-Chester. 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