# Bilateral Pheochromocytoma in a Child Revealing Von Hippel-Lindau Disease

## TL;DR

A 14-year-old boy with high blood pressure and seizures was found to have a rare tumor linked to a genetic disorder, highlighting the need for early genetic testing in children.

## Contribution

This case emphasizes the importance of genetic screening in pediatric bilateral pheochromocytoma for diagnosing von Hippel-Lindau disease.

## Key findings

- Bilateral pheochromocytoma in a child was linked to a pathogenic variant in the VHL gene.
- Post-surgery, the patient's blood pressure and catecholamine levels normalized with no recurrence after 14 months.
- Systematic screening confirmed no additional tumors during follow-up.

## Abstract

We report the case of a 14-year-old boy admitted with malignant hypertension, headaches, vomiting, and generalized seizures. Clinical, biochemical, and imaging evaluations revealed bilateral adrenal masses with elevated plasma metanephrines, consistent with bilateral pheochromocytoma. After preoperative preparation with an alpha-blocker, the patient underwent right adrenalectomy, and histopathological analysis confirmed a low-aggressive pheochromocytoma. Postoperatively, his blood pressure normalized, catecholamine levels returned to normal, and cardiac function improved. Genetic testing identified a pathogenic variant in the von Hippel-Lindau (VHL) gene, confirming the diagnosis of VHL disease. A 14-month follow-up showed clinical stability, no recurrence, and no additional tumors during systematic screening. This case highlights the importance of early diagnosis and genetic screening in pediatric pheochromocytoma, especially in bilateral cases, to guide treatment and long-term surveillance.