Paediatric Paraganglioma with Variant of Unknown Significance on Genetic Testing.

INTRODUCTION: Sympathetic paragangliomas (PGLs) are rare neuroendocrine tumours originating from chromaffin cells, primarily in the thorax, abdomen, and pelvis. Paediatric PGLs are particularly uncommon, but they represent a notable cause of secondary hypertension in children. These tumours frequently have a genetic basis, with up to 40% of patients carrying germline mutations, including variants of unknown significance (VUS), which present diagnostic and management challenges.

CASE PRESENTATION: In this case report, we describe a 10-year-old male who presented with seizures and hypertensive crisis, later diagnosed with a functional PGL. Biochemical tests confirmed elevated catecholamines, and imaging revealed a 3 cm para-aortic tumour. Genetic testing identified a heterozygous mutation in the FH gene classified as VUS. Surgical resection of the tumour was curative, with no recurrence after 2 years of follow-up.

CONCLUSION: This case underscores the complexities of interpreting VUS in paediatric PGL and highlights the need for long-term follow-up and further research into the clinical significance of these genetic findings.