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

Luis Carlos Salazar, Luz Ángela Moreno , Lina Eugenia Jaramillo , Edgar Vladimir Cabrera , .

Palabras clave: enfermedad de Erdheim-Chester, histiocitosis, pediatría, proteínas protooncogénicas B-raf, radiología, imagen por resonancia magnética

Resumen

La enfermedad de Erdheim-Chester es una condición extremadamente rara en la edad pediátrica. Se presenta el caso de una niña de 12 años con diagnóstico histológico y radiológico de enfermedad de Erdheim-Chester multisistémica y mutación en el gen BRAF, que requirió tratamiento con dabrafenib.
Hasta el momento, se han reportado 22 casos pediátricos en el mundo y este es el segundo en Latinoamérica. Se observó el hallazgo radiológico denominado signo oscuro paraselar, descrito hasta ahora en pacientes con hipofisitis autoinmunitaria para diferenciarlos de aquellos con adenomas hipofisarios.
Este reporte contribuye a la literatura médica en dos aspectos fundamentales: las manifestaciones clínicas de la enfermedad y su diagnóstico en la población pediátrica.

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  • Luis Carlos Salazar Departamento de Radiología e Imágenes Diagnósticas, Facultad de Medicina, Universidad Nacional de Colombia, Bogotá, D.C., Colombia https://orcid.org/0000-0003-4762-8228
  • Luz Ángela Moreno Departamento de Radiología e Imágenes Diagnósticas, Facultad de Medicina, Universidad Nacional de Colombia, Bogotá, D.C., Colombia; Unidad Funcional de Imágenes Diagnósticas, Fundación Hospital de La Misericordia, Bogotá, D.C., Colombia https://orcid.org/0000-0003-0559-842X
  • Lina Eugenia Jaramillo Departamento de Patología, Facultad de Medicina, Universidad Nacional de Colombia, Bogotá, D.C., Colombia; Laboratorio de Patología, Fundación Hospital de La Misericordia, Bogotá, D.C., Colombia https://orcid.org/0000-0002-8496-0687
  • Edgar Vladimir Cabrera Servicio de Oncohematología Pediátrica, Fundación Hospital de La Misericordia, Bogotá, D.C., Colombia https://orcid.org/0000-0001-9494-1263

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Cómo citar
1.
Salazar LC, Moreno L Ángela, Jaramillo LE, Cabrera EV. Enfermedad de Erdheim-Chester: primer caso pediátrico reportado en Colombia. biomedica [Internet]. 15 de diciembre de 2021 [citado 22 de mayo de 2022];41(4):615-24. Disponible en: https://revistabiomedica.org/index.php/biomedica/article/view/5651

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Publicado
2021-12-15
Sección
Presentación de caso
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