Endocrine Abstracts

Neurofibromatosis type 1 (NF1) is a rare autosomal dominant disorder characterized by the development of multiple benign tumors of the nerves and the skin (neurofibromas) and areas of abnormal increased and decreased coloration of the skin. Pheochromocytoma develops in 0.1–5.7% of NF1 patients and plexiform neurofibroma in 30% of NF1 patients. We present a case of a 38-year-old female, without relevant personal, with a familial phenotype suggestive for NF1, evaluated for a two years history of tachycardia and hypertension. The clinical examination meet the criteria for NF-1 (skin tags with cutaneous and subcutaneous neurofibromas, café-au-lait spots and axillary freckling and Lisch nodules revealed in the ophthalmologic examination). She is the mother of two daughters, one of them with severe scoliosis. Laboratory testing showed pure autonomous adrenergic secretion with more than three times plasma metanephrine and normal normetanephrine. The abdominal MRI described a left adrenal mass of 22/21 mm and an inhomogeneous hypointense mass 62/42/49 mm that rises from the neural plexus situated between the right kidney psoas muscle and the posterior abdominal wall with central contrast enhancement suggestive of a plexiform neurofibroma. We performed removal of the left adrenal pheochromocytoma after alpha-adrenergic blockade. Following surgery, the patient had normalized the blood pressure and had normal range plasma metanephrine. Elective surgery for the abdominal plexiform neurofibroma is planned because of his malignant potential.