Mediastinal paraganglioma type 4 syndrome associated with a Variant in the Succinate dehydrogenase Type B complex (SDHB)
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Keywords

Paraganglioma
Pheochromocytoma
Neuroendocrine tumor
Catecholamines
Endocrine hypertension
Succinate dehydrogenase

How to Cite

Araque, S. E. ., Cano, R. A. ., Mantilla, Y. S., Gaona , H. L. ., Ali , W. Y. ., Pérez , J. A., & Ovalle , J. P. . (2024). Mediastinal paraganglioma type 4 syndrome associated with a Variant in the Succinate dehydrogenase Type B complex (SDHB). Revista Colombiana De Endocrinología, Diabetes &Amp; Metabolismo, 11(1). https://doi.org/10.53853/encr.11.1.833

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.

https://doi.org/10.53853/encr.11.1.833
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