Pheochromocytomas might be sporadic or genetic. Genetic pheochromocytoma is associated with multiple endocrine neoplasia (MEN) type 2A, MEN type 2B, and von Hippel-Lindau (VHL) disease. RET mutations are identified in more than 90% of index cases of MEN2 and familial medullary thyroid cancer and in about 4–12% of apparent sporadic cases. Here, we report a 54-year-old man presenting with pheochromocytoma and renal cell carcinoma, who was identified as having a novel missense RET mutation.
An incidentaloma is a tumor found incidentally without clinical symptoms or suspicion; the lesion may be adrenal, pituitary, or thyroidal. We report the case of an asymptomatic individual with preoperatively undiagnosed pheochromocytoma (size: 4.86 cm) that was revealed using elective nonadrenal surgical procedures. The patient demonstrated peri- and post-operative hypertensive crisis and tachycardia. Three days after the dramatic onset of symptoms, the patient expired due to pulmonary edema, multiple organ failure, and terminal sepsis, despite administration of extracorporeal membrane oxygenation-assisted cardiopulmonary resuscitation. A left medial kidney mass obtained at autopsy confirmed pheochromocytoma.
Pheochromocytoma is a catecholamine-producing tumor characterized by hypertension, headache, tachycardia, excessive diaphoresis, and angina pectoris. The thunderclap headache is so named because the pain strikes suddenly and severely. Although the symptoms of bladder pheochromocytoma are rather evident, the diagnosis of this rare neuroendocrine tumor can be missed. This study reports the case of a woman diagnosed with bladder pheochromocytoma who experienced thunderclap headache triggered by urination and angina pectoris as an initial manifestation. This case study suggests that thunderclap headache and angina pectoris occurring concurrently with sudden blood pressure elevation during or immediately after urination are important diagnostic clues of bladder pheochromocytoma.
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