Paediatric Paraganglioma with Variant of Unknown Significance on Genetic Testing.

ABSTRACT:

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 heterozygou

SUBMITTER: Ong JL 

PROVIDER: S-EPMC11850024 | biostudies-literature | 2025 Jan-Dec

REPOSITORIES: biostudies-literature