An Uncommon Presentation of Pheochromocytoma in Neurofibromatosis Type 1 and the Importance of Long-Term Follow-Up

Authors

  • Inês Henriques Vieira Endocrinology Department. Coimbra Hospital and University Centre. Coimbra. https://orcid.org/0000-0003-3360-0486
  • Vânia Almeida Anatomical Pathology Unit. Coimbra Hospital and University Centre. Coimbra. Medical School. University of Coimbra. Coimbra.
  • Carolina Moreno Endocrinology Department. Coimbra Hospital and University Centre. Coimbra. Medical School. University of Coimbra. Coimbra.
  • Isabel Paiva Endocrinology Department. Coimbra Hospital and University Centre. Coimbra.

DOI:

https://doi.org/10.20344/amp.16604

Keywords:

Neurofibromatosis 1, Pheochromocytoma

Abstract

Neurofibromatosis type 1 (NFT1) is a disease caused by mutations in the tumor suppressor gene NF1. It is associated with a higher incidence of chromaffin cell tumors which are usually adrenal, unilateral and benign. The presence of these tumors during pregnancy is extremely rare and frequently associated with fatal outcomes. We report the case of a female patient with NFT1, who presented with paroxysmal spells of headache, palpitations, dizziness and pre-cordial discomfort, starting immediately after the delivery of her third child. Diagnostic work-up came to reveal a bilateral pheochromocytoma and the patient underwent bilateral adrenalectomy. Over 12 years after the initial surgery, metastatic disease was diagnosed, and a reintervention was performed. This is a rare presentation of bilateral malignant pheochromocytoma in a patient with NFT1, with postpartum occurrence of the first symptoms. This text focuses the important details and challenges found at each stage of diagnosis and follow-up.

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Author Biography

Inês Henriques Vieira, Endocrinology Department. Coimbra Hospital and University Centre. Coimbra.

Endocrinology resident at Centro Hospitalar e Universitário de Coimbra

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Published

2022-04-08

How to Cite

1.
Henriques Vieira I, Almeida V, Moreno C, Paiva I. An Uncommon Presentation of Pheochromocytoma in Neurofibromatosis Type 1 and the Importance of Long-Term Follow-Up. Acta Med Port [Internet]. 2022 Apr. 8 [cited 2023 Feb. 7];36(1):55-8. Available from: https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/16604

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Section

Case Report