Pheochromocytoma as a manifestation of Neurofibromatosis type 1: Clinical presentation, diagnosis, and genetic analysis.
Neus Baena-Díez, Ruth Cano-Corres, Elisabet Castellanos et al.
✦ AI-curated · Sources linked
Case in brief
A 50-year-old woman with a clinical diagnosis of neurofibromatosis type 1 (NF1), based on family history and multiple diagnostic criteria, presented with episodic abdominal pain and symptoms suggestive of pheochromocytoma. Imaging showed a left adrenal mass, and urine testing found markedly elevated catecholamine metabolites. Following medical management, she underwent tumour resection. Genetic testing identified a pathogenic germline splice-site variant in NF1, confirming the hereditary basis of her condition.
What made this case unusual
The report links a pheochromocytoma presentation in a patient with clinically diagnosed NF1 to confirmation of a pathogenic germline NF1 splice-site variant.
Diagnostic / clinical pearl
In a patient with NF1 and symptoms suggestive of pheochromocytoma, integrate clinical assessment with biochemical testing and imaging; genetic testing can confirm a pathogenic NF1 variant and inform care.
Why it matters
Identifying a pathogenic variant can guide tailored surveillance and support counseling of at-risk relatives.