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Catecholamine crisis as a first manifestation of familial bilateral pheochromocytoma caused by RET proto-oncogene mutation in codon C 634R.

INTRODUCTION
Multiple endocrine neoplasia type 2 (MEN 2) is a genetic disorder caused by mutation in the RET proto-oncogene. MEN 2A includes medullary carcinoma of the thyroid, pheochromocytoma, and primary hyperparathyroidism. The authors present a case study of three family members with bilateral pheochromocytoma in the course of MEN 2A, a catecholamine crisis being the first manifestation of the syndrome in one of them. Case 1: A 30-year-old man without a history of hypertension or any other chronic medical problems was admitted to the Emergency Department because of a hypertensive crisis that was followed by cardiac arrest. A later diagnosis revealed bilateral pheochromocytoma and RET proto-oncogene mutation in codon 634. The patient underwent bilateral adrenalectomy and total thyroidectomy; the latter confirmed the presence of medullary carcinoma. Case 2: The patient underwent right adrenalectomy with the removal of a pheochromocytoma at the age of sixteen. Ten years later, a suspicion of pheochromocytoma in the remaining left adrenal was raised. Mutation in the RET proto-oncogene was confirmed as well. The patient first underwent left adrenalectomy and then she had total thyroidectomy. Postoperative histopathological examinations revealed pheochromocytoma and medullary carcinoma. Case 3: Radiological and biochemical examination confirmed pheochromocytoma. Therefore, the two adrenals were removed. As mutation in codon 634 was detected, the patient underwent total thyroidectomy as well. The presence of medullary carcinoma was confirmed.


CONCLUSIONS
Pheochromocytoma is a rare and potentially lethal disease if a catecholamine crisis develops. Its recognition requires further investigation towards genetic syndromes, particularly MEN 2A.