Pheochromocytoma as a manifestation of Neurofibromatosis type 1: Clinical presentation, diagnosis, and genetic analysis.

Objectives

Neurofibromatosis type 1 (NF1) is a genetic multisystem disorder characterized by café-au-lait macules, neurofibromas, and other clinical features. Patients with NF1 have an increased risk of developing various tumours, including pheochromocytomas and paragangliomas (PPGLs), rare neuroendocrine tumours that secrete catecholamines. The prevalence of PPGL in NF1 patients varies, with some studies reporting rates up to 7.7%. Diagnosis relies on clinical symptoms such as hypertension, headaches, and palpitations, alongside biochemical and imaging studies. CASE PRESENTATION This report presents a 50-year-old woman with a clinical diagnosis of NF1, based on family history and multiple diagnostic criteria, who presented with episodic abdominal pain and symptoms suggestive of pheochromocytoma. Imaging revealed a left adrenal mass, and biochemical urine analysis showed markedly elevated catecholamine metabolites. After appropriate medical management, she underwent surgical resection of the tumour. Genetic testing identified a pathogenic germline splice-site variant in the NF1 gene, confirming the hereditary nature of her condition.

Conclusions

The case highlights the importance of genetic testing in patients with PPGL, particularly those with NF1, as it influences management, prognosis, and family counseling. Early identification of pathogenic variants allows for tailored surveillance strategies and informs at-risk relatives. Current guidelines recommend routine biochemical screening in NF1 patients for PPGLs, though optimal imaging intervals remain debated. This case underlines the necessity of integrating clinical, biochemical, radiological, and genetic data for comprehensive care in NF1-associated pheochromocytoma.