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Case Reports: Reminder of important clinical lesson
PGL4 syndrome in a patient with synchronous paraganglioma-pheochromocytoma
  1. João José Nunes Roque1,
  2. Carlos Martins2 and
  3. Maria João Guerreiro Martins Bugalho1,3
  1. 1Endocrinology Department, Hospital de Santa Maria, Lisboa, Portugal
  2. 2Vascular Surgery Department, Hospital de Santa Maria, Lisboa, Portugal
  3. 3Faculty of Medicine - Universidade de Lisboa, Lisboa, Portugal
  1. Correspondence to Professor Maria João Guerreiro Martins Bugalho; maria.bugalho{at}chln.min-saude.pt

Abstract

Pheochromocytoma and paraganglioma (PGL) are rare neuroendocrine tumours, frequently associated with genetic syndromes. We report the case of a man in his 40s with a left anterior neck mass and a history of hypertensive crisis, heavy sweating and constipation. Biochemical tests showed increased plasma and urine normetanephrines. Neck ultrasound suggested left carotid body PGL, but it was mandatory to search for other lesions. Whole-body MIBG failed to show abnormal uptake. Abdominal MRI was suggestive of another PGL, anterior to the right adrenal gland. Abdominal surgery was performed uneventfully under alpha and beta blockers. This intervention proved to be effective, as normetanephrines levels became completely normal after 1 month. Carotid body PGL was successfully excised 4-months later. Genetic study identified a large deletion in exon 1 of the SDHB gene allowing the diagnosis of paraganglioma syndrome type 4 (PGL4). After 19 months of follow-up, he is still on clinical and biochemical remission and will continue life-long surveillance.

  • Adrenal disorders
  • Endocrine cancer
  • Radiology
  • Head and neck surgery
  • Vascular surgery

https://doi.org/10.1136/bcr-2021-247023

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    Footnotes

    • Contributors JJNR was responsible for patient's follow-up and manuscript writing. CM was responsible for both surgeries. MJGMB was responsible for clinical counseling and decisions and also for manuscript revision.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.