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The first step was to conduct an ultrasound scan, at the health centre, that revealed a bilateral hydronephrosis with no apparent cause. Next, a multidetector computed tomography (MDCT) showed big kidneys with blur and increased density of perirenal and renal sinus fat (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>), sign known as “hairy kidney”. These findings are typical of Erdheim-Chester Disease (ECD).</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0010" class="elsevierStylePara elsevierViewall">Perirenal fat biopsy with a diffuse infiltration by histiocytes and isolated Touton giant cells validated the diagnosis. BRAF V600E mutation was confirmed.</p><p id="par0015" class="elsevierStylePara elsevierViewall">The bone marrow biopsy confirms dotted CD68+ foamy histiocytes.</p><p id="par0020" class="elsevierStylePara elsevierViewall">Interstitial lung disease and symmetric long bone uptake in 99mTc bone scan was also noted, with predominance in femur and tibia (not shown). PET-TC confirmed diffuse hypermetabolic perirenal and renal disease. Pulmonary CT showed ground-glass opacities in upper lobes.</p><p id="par0025" class="elsevierStylePara elsevierViewall">The patient initiated a treatment with Vemurafenib. PET-TC conducted after 16 weeks showed metabolic response in retroperitoneum.</p><p id="par0030" class="elsevierStylePara elsevierViewall">ECD is a non-Langerhans cell histiocytic neoplasm, a rare multisystemic disease with complex manifestations and often a delayed or overlooked diagnosis. 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Image in medicine
Perirenal infiltration: Key point in Erdheim-Chester disease diagnosis
Infiltración perirrenal: signo clave en el diagnóstico de la enfermedad de Erdheim-Chester
Alejandra García Baizan, Paula Pereira Bouzas
, Rosa Bouzas Sierra
Autor para correspondencia
Department of Radiology, Hospital Universitario de Vigo (CHUVI), Vigo, Spain