Síndrome de paraganglioma mediastinal tipo 4 asociado a una variante en el complejo succinato deshidrogenasa tipo B (SDHB)

  1. Sarai Elena Araque 1
  2. Raquel Amira Cano 2
  3. Yohana Sofia Mantilla 1
  4. Henry Leonardo Gaona 1
  5. Waeel Yamil Ali 1
  6. Jesús Antonio Pérez 3
  7. Juan Pablo Ovalle 4
  1. 1 Programa de especialización en Medicina Interna, Universidad Libre, Barranquilla, Colombia
  2. 2 Programa de especialización en Medicina Interna, Universidad Libre, Barranquilla, Colombia; Departamento de Endocrinología, Clínica General del Norte, Barranquilla, Colombia
  3. 3 Centro de Diagnóstico de Patología, Clínica General del Norte, Barranquilla, Colombia
  4. 4 Departamento de Cirugía de Tórax, Clínica General del Norte, Barranquilla, Colombia
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Journal:
Revista Colombiana de Endocrinología, Diabetes y Metabolismo

ISSN: 2389-9786

Year of publication: 2024

Volume: 11

Issue: 1

Type: Article

DOI: 10.53853/ENCR.11.1.833 DIALNET GOOGLE SCHOLAR lock_openOpen access editor

More publications in: Revista Colombiana de Endocrinología, Diabetes y Metabolismo

Abstract

Introduction: Catecholamine-producing tumors are the most heritable (40%) solid neoplasms, rare, with a prevalence of less than 0.05% in the general population. They are clinically heterogeneous, mostly asymptomatic and studied as incidentalomas or during the follow-up of other pathologies. Objective: There are few reported cases of symptomatic catecholamine-producing tumors in our region, mainly hereditary paragangliomas. Therefore, the objective of this case report is to describe the diagnostic and therapeutic approach conducted at a tertiary center in the city of Barranquilla. Case presentation: We describe the case of a woman in her third decade of life with secondary arterial hypertension related to a functional posterior mediastinal paraganglioma. Successful surgical resection was performed, and pathology examination confirmed origin from chromaffin cells of the sympathetic ganglion. Genetic analysis identified a heterozygous mutation in the Succinate Dehydrogenase Subunit B gene, variant c166_170del, with pathogenic significance, leading to the conclusion of familial paraganglioma type 4. Discussion and conclusion: This article discusses the definition, clinical presentation, diagnosis, treatment, and prognosis of catecholamine-secreting tumors. It presents a clinical case of type 4 paraganglioma, diagnostic tests, imaging, and clinical approach.

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Data source: Dialnet