Endocrine Abstracts

Introduction: Neurofibromatosis 1 (NF1) or von Recklighausen disease is an autosomal condition caused by heterozygous mutations of the NF1 gene. Patients with NF-1 are at an approximately fourfold higher risk of developing tumors than the general population. Pheochromocytoma may occur in about 1% of these patients.

Case report: A 24-year-old woman was admitted to our hospital for further examinations of a 6-cm right adrenal mass, that was incidentally discovered by abdominal ultrasonography during examinations for asthenia and weight-loss and confirmed by abdominal computed tomographic scans and magnetic resonance imaging. Family medical history revealed that the father had a NF-1. In her past medical history, the patient had many episodes of palpitation, sweating and headache one year before and she was diagnosed to have hypertension one month back. Physical examination revealed signs of NF1. She had multiple café-au-lait spots on the trunk and extremities and skinfold freckling. Bilateral opthalmic examination revealed no Lisch nodules. Urinary catecholamines were markedly increased. The treatment with β-blockers and alpha-blockers kept the patient asymptomatic. Right suprarenalectomy was successfully preformed and the anatomopathological examination of the surgical sample confirmed the diagnosis of pheochromocytoma.

Conclusion: Our case highlights the role of screening for pheochromocytoma in all patients of neurofibromatosis wich deserves attention especially with the presence of hypertension.