Pheochromocytoma and Neurofibromatosis Type 1 - description of case

Monteiro, AM; Alves, M; Souto, S; Manso, F; Cruz, M; Marques, O

http://hdl.handle.net/10400.23/668

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Introduction: 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. Type 1 neurofibromatosis is an autosomal dominant disease that is associated with the occurrence of these tumors. Pheochromocytomas appears in 0.1 to 5.7 % of patients with type 1 neurofibromatosis, and are usually solitary and benign lesions. Clinical case: We present the case of a 50-years-old female, with a past history of type 1 neurofibromatosis, arterial hypertension, depressive syndrome, divergent strabismus and tabagism, medicated with irbesartan 300mg, sertraline and alprazolam. She was referenced to our service of Endocrinology due to a 6 cm nodular lesion in the right adrenal gland, detected in a renal CT. On physical examination, she presented high blood pressure, cafe-au-lait spots and cutaneous neurofibromas. Adrenal functional study revealed high levels of plasma metanephrines, and urinary fractionated catecholamines and metanephrines. The MRI showed a massive heterogeneous right adrenal gland mass with 48x48x63 mm, with hyperintense signal on T2-weighted images, internal cystic areas and hyperintensity on T1-weighted images that may correspond to hemorrhagic areas. This mass presents frank capture of contrast and marked restriction in diffusion weighting. These 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. Histological examination revealed a pheochromocytoma with capsule invasion, adjacent adipose tissue invasion, but without vascular invasion. After surgery, levels of plasma metanephrines, and urinary fractionated catecholamines and metanephrines became normal. Currently, she has her arterial blood pressure controlled 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.