Young woman diagnosed with paraganglioma in primary care

BMJ Case Rep. 2021 Jul 21;14(7):e242448. doi: 10.1136/bcr-2021-242448.

Abstract

A 15-year-old young woman was referred to the emergency room for admission by her general practitioner after receiving the results of urinary metanephrines and catecholamines requested to study the tachycardia, sweating and headaches that she had been presenting progressively last year. Imaging tests showed a large right supraumbilical para-aortic paraganglioma that was successfully removed with surgery after previous medical preparation with adrenergic blockers. Genetic testing showed a heterozygous mutation of the gene succinate dehydrogenase-B. The classic triad of symptoms in these disorders consists of headaches, sweating and tachycardia, usually accompanied by hypertension. We wanted to present this case, a challenging diagnosis of paraganglioma in primary care.

Keywords: cancer intervention; endocrine cancer; general practice / family medicine; genetics.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Catecholamines
  • Female
  • Genetic Testing
  • Humans
  • Mutation
  • Paraganglioma* / diagnostic imaging
  • Paraganglioma* / surgery
  • Primary Health Care

Substances

  • Catecholamines