Endocrine Abstracts

Introduction: Compared to normal population, patients with neurofibromatosis are at higher risk for the development of benign and malignant tumors. Pheochromocytomas are relatively rare in neurofibromatosis type 1 (NF1), and malignant ones are even rarer.

Aim of the presentation: Our aim was to report a malignant pheochromocytoma with multiple metastases in a patient with NF1.

Case report: A male patient aged 23 years old, with laparoscopically resected pheochromocytoma. He was investigated for headaches, flushing and palpitations. The diagnosis of pheochromocytoma was confirmed by elevated 24-hour urine levels of metanephrines and catecholamines. Computed Tomography Scan revealed a mass measuring 10 x 8, 2x 9,4 cm in the left adrenal gland and pulmonary metastases. The patient presented with classic clinical features of NF-1, café-au-lait spots and skin nodules. He was operated on and histological examination confirmed the diagnosis of pheochromocytoma with a Pass score of 9. After surgery, urinary catecholamines were high and there were diffuse pulmonary and liver metastases with Octreotide scan uptake. Somatostatin analogues and MIBG therapy are being considered.

Conclusion: The association of a malignant pheochromocytoma with neurofibromatosis type 1 although very rare should be known as pheochromocytoma and its metastases may be totally asymptomatic as in the presented case.

Key-Words: Pheochromocytoma-neurofibromatosis-malignant-catecholamines