Pediatric malignant pheochromocytoma with atypical presentation as vision changes, lung metastasis, and recurrence: a case report

J Med Case Rep. 2024 Mar 5;18(1):134. doi: 10.1186/s13256-023-04329-7.

Abstract

Background: This case report documents a case of malignant pheochromocytoma manifested as vision changes with lung metastasis and recurrence.

Case presentation: A 10-year-old Han Chinese girl presented with vision changes and was eventually diagnosed with pheochromocytoma by contrast-enhanced computed tomography, urine vanillylmandelic acid. After medication for hypertension and surgery, clinical symptoms disappeared. Malignant pheochromocytoma with lung metastasis was confirmed histologically using the Pheochromocytoma of the Adrenal Gland Scaled Score scoring system and genetically with succinate dehydrogenase complex iron sulfur subunit B mutation, and 3 months later, unplanned surgery was performed because of the high risks and signs of recurrence. She is asymptomatic as of the writing of this case report. Our patient's case highlights the importance of considering a diagnosis of malignant pheochromocytoma, and long-term follow-up for possible recurrence.

Conclusion: Although there are well-recognized classic clinical manifestations associated with pheochromocytoma, atypical presentation, such as vision changes in children, should be considered. In addition, malignant pheochromocytoma children with a high Pheochromocytoma of the Adrenal Gland Scaled Score and succinate dehydrogenase complex iron sulfur subunit B mutation require a long-term follow-up or even unplanned surgery because of the higher risk of recurrence.

Keywords: SDHB mutation; Case report; Malignant pheochromocytoma; Vision changes.

Publication types

  • Case Reports

MeSH terms

  • Adrenal Gland Neoplasms*
  • Child
  • Female
  • Humans
  • Iron
  • Lung Neoplasms*
  • Pheochromocytoma* / diagnosis
  • Pheochromocytoma* / surgery
  • Succinate Dehydrogenase / genetics
  • Sulfur

Substances

  • Succinate Dehydrogenase
  • Sulfur
  • Iron