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

TL;DR

A 10-year-old girl with malignant pheochromocytoma showed unusual symptoms like vision changes and lung metastasis, highlighting the need for long-term monitoring.

Contribution

This case report presents an atypical pediatric case of malignant pheochromocytoma with vision changes and genetic mutation confirmation.

Findings

Malignant pheochromocytoma was confirmed histologically and genetically with a SDHB mutation.

The patient showed atypical symptoms like vision changes and lung metastasis.

Unplanned surgery was performed due to high recurrence risk and Pheochromocytoma of the Adrenal Gland Scaled Score.

Abstract

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

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.

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.

The online version contains supplementary material available at 10.1186/s13256-023-04329-7.

Figures