RESUMO
Paragangliomas are tumors arising from sympathetic and parasympathetic tissues. The classic associated syndromes are neurofibromatosis type 1, multiple endocrine neoplasia type 2 and von Hippel-Lindau. Germline mutations of succinate dehydroge-nase subunits genes, are associated with familial paraganglioma syndromes 1,2,3 and 4. We report a 29-year-old woman with a family background of pheochromocytoma and history of paroxysmal headache, nausea, sweating, palpitations, associated with severe hypertension. The patient had elevated plasma noradrenalin and urinary normetanephrines. Imaging studies revealed three retroperitoneal extra-adrenal masses. The clinical and laboratory study of classic syndromes associated with para-ganglioma was negative. The patient was operated and the pathological study of the surgical specimen was consistent with paragangliomas. The genetic study showed a mutation in the SDHB succinate dehydrogenase gen, Exon 2 of CCTCA c.300_304 (p.P56delYfsX5).
Assuntos
Adulto , Feminino , Humanos , Neoplasias das Glândulas Suprarrenais/genética , Mutação/genética , Paraganglioma/genética , Succinato Desidrogenase/genética , LinhagemRESUMO
Addisonian crisis as a first manifestation of metastatic disease secondary to cancer is uncommon. We report a 63-year-old man with a history of one year of fatigue, weakness, weight loss and repeated symptomatic hypoglycemia. The cortisol stimulation test with ACTH confirmed primary adrenal insufficiency. While receiving adequate treatment with oral hydrocortisone, he presented an adrenal crisis that was treated properly. A CT scan of the lung demonstrated a nodule in the upper right lobe and bilateral adrenal tumors. The biopsy of the lesion revealed a lung adenocarcinoma. The staging with positron emission tomography using 18 fluoroglucose (PET/CT18F- FDG) showed hypermetabolic uptake in the primary lung tumor and in both adrenal glands, suggesting metastatic implants.