Introduction: Catecholamine secreting tumors are rare neoplasias. About 15% are paragangliomas. If untreated, they are almost invariably lethal. Surgery is the only curative therapy.
Case report: A female caucasian patient aged 32 was evaluated in the endocrine department. She had a dramatic medical history: Fallots Tetralogy was diagnosed soon after birth but was not corrected. Only a Blalock-Taussing shunt was performed after three isquemic strokes due to endocarditis, when patient was 22. She suffered from sequelar right-side hemiparesis and epilepsy. She had also glucose-6-phosphate desidrogenase deficiency. At 32 she was assisted at the emergency department because of recent vomiting, headache and arterial hypertension. She had a recent weight loss with a BMI of 16 kg/m2. Examination revealed depressed mood, orthostatic hypotension, holosystolic aortic bruit and chronic hypoxia signs. Several hypertensive paroxysms (maximum value: 240/140 mmHg) with diaphoresis were documented. Urinary normetanephrine and metanephrine were very high (227 and 58 times higher than the upper limit of the reference range) with a paradoxal increase in clonidine test. The CT scan revealed a solid hypervascular right paramedian retroperitoneal tumor with 49 mm of diameter at the level of the superior mesenteric artery with strong uptake in I123-MIBG scintigraphy. Surgery was uneventful after careful pre-operatory preparation with α- and β-blockers and volume expansion. Five months later the patient recovered weight and was normotensive without antihypertensive drugs. Succinate dehydrogenase mutations (SDHA, SDHB and SDHC) were not found.
Conclusion: We report a challenging situation, life-threatening without surgical treatment, but with a high surgical risk due to the severe comorbidities. A positive outcome was strongly dependent on the multidisciplinary collaboration of different departments.
20 - 23 May 2017
European Society of Endocrinology