Enfermedad de Erdheim-Chester: primer caso pediátrico reportado en Colombia

Erdheim-Chester disease (ECD) is very infrequent in children. We present a 12-years-old girl, with histological and radiological diagnosis of Erdheim-Chester disease and mutation from BRAF gene, who developed multisystemic compromise and required treatment with dabrafenib. Currently, we identified 22 reports of this condition among children worldwide, this is the second pediatric case in Latin America. Diagnostic imaging is critical on confirming Erdheim-Chester disease as well as, surgical planning for biopsy. Also, the parasellar dark sign was identified, which has previously been reported on lymphocytic hypophysitis. This report contributes to current practice because it shows ECD’s clinical presentation and diagnostic workout in pediatrics.