Endocrine Abstracts (2017) 49 EP96 | DOI: 10.1530/endoabs.49.EP96

Paraganglioma and Fallot Tetralogy: case report

Ana Filipa Martins1, João Martin Martins1,2 & Sónia do Vale1,2


1Hospital de Santa Maria – CHLN, Lisboa, Portugal; 2Faculdade de Medicina de Lisboa, Lisboa, Portugal.


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: Fallot’s 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.

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