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Biomédica
Print version ISSN 0120-4157On-line version ISSN 2590-7379
Abstract
SALAZAR, Luis Carlos; MORENO, Luz Ángela; JARAMILLO, Lina Eugenia and CABRERA, Edgar Vladimir. Erdheim-Chester disease: First pediatric case report in Colombia. Biomed. [online]. 2021, vol.41, n.4, pp.615-624. Epub Dec 15, 2021. ISSN 0120-4157. https://doi.org/10.7705/biomedica.5651.
The Erdheim-Chester’s disease is extremely rare in children. We present the case of a 12-year-old girl with histological and radiological diagnosis of this disease and mutation of the BRAF gene, who developed multisystemic compromise requiring treatment with dabrafenib. We identified 22 reports of this condition among children worldwide and this is the second pediatric case in Latin America. Diagnostic imaging is critical to confirm Erdheim-Chester disease and for the surgical planning of the biopsy. Additionally, we identified the parasellar dark sign, which has previously been reported on lymphocytic hypophysitis.
This report contributes to the current practice as it shows the clinical presentation and the diagnostic workout of this disease in pediatrics.
Keywords : Erdheim-Chester’s disease; hypophysitis; pediatrics; B-Raf proto-oncogene proteins; magnetic resonance imaging.