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Association between pheochromocytoma and neurofibromatosis type I: a rare entity in the African population
  1. Brandon S Jackson1,
  2. Maryke De Villiers2 and
  3. Daniel Montwedi1
  1. 1Surgery, Kalafong Provincial Tertiary Hospital, University of Pretoria, Pretoria, South Africa
  2. 2Internal Medicine, Kalafong Provincial Tertiary Hospital, University of Pretoria, Pretoria, South Africa
  1. Correspondence to Professor Daniel Montwedi; daniel.montwedi{at}up.ac.za

Abstract

The association of pheochromocytoma in patients with neurofibromatosis type I has rarely been reported in low-income countries, especially on the African continent. A 43-year-old woman with neurofibromatosis type I was diagnosed with a right adrenal pheochromocytoma in Pretoria, South Africa. To our knowledge, this report is the first case to be published of a patient with neurofibromatosis type I diagnosed with a pheochromocytoma in Pretoria, and one of three cases on the African continent. The rarity may be due to the two associated conditions being under-reported, undiagnosed, misdiagnosed or possibly the association is rare on the African continent. The clinician dealing with these two conditions should be aware of the association.

  • adrenal disorders
  • genetic screening / counselling
  • neuroendocrinology
  • general surgery

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Footnotes

  • Contributors BSJ and MDV wrote the paper; BSJ, MDV and DM reviewed and edited the manuscript.

  • 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.

  • Disclaimer 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.

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