Endocrine Abstracts

Introduction: The pheochromocytomas are rare neuroendocrine tumors that can occur sporadically or, in about 30% of cases, in the context of family syndromes. Ten percent are malignant. Neurofibromatosis type 1 is an autosomal dominant disease that is associated with the occurrence of these tumors. Pheochromocytoma appears at 0.1– 5.7% of patients with neurofibromatosis type 1, and are usually solitary and benign lesions.

Clinical case: A 50-year-old female, with history of neurofibromatosis type 1, hypertension, depressive syndrome, divergent strabismus and smoker. Medicated with irbesartan 300 mg, sertraline and alprazolam.

She was referenced to our service of Endocrinology due to a 6 cm nodular lesion in the right adrenal, detected in renal CT.

On physical examination, the patient presented high blood pressure, cafe-au-lait spots and cutaneous neurofibromas. The adrenal functional study revealed high levels of plasma metanephrines, vanillylmandelic acid, urinary fractionated catecholamines and metanephrines. The MRI showed a massive heterogeneous right adrenal gland mass with 48×48×63 mm, with hyperintense signal on T2-weighted, internal cystic areas and areas of hyperintensity on T1-weighted that may correspond to areas of hemorrhage. The mass presents frank capture of contrast and marked restriction in diffusion weighting. This findings favour the diagnosis of pheochromocytoma. The I131-MIBG showed an image compatible with right adrenal pheochromocytoma. After appropriate preoperative therapy, laparoscopic right adrenalectomy was performed. Patological examination revealed a pheochromocytoma with invasion of capsule and adjacent adipose tissue, without vascular invasion. After surgery, levels of plasma metanephrines, vanillylmandelic acid, urinary fractionated catecholamines and metanephrines normalized. Currently, she has good blood pressure control without medication.

Conclusions: We consider important to present this case due to the rarity of the case, the possibility of malignancy, a hypothesis strengthened by tumor size, and the challenge of long-term follow-up of these tumors.