Multiple endocrine neoplasia type 2B (MEN 2B) is a rare autosomal dominant hereditary cancer syndrome which is characterized by the appearance of medullary thyroid carcinoma (MTC), pheochromocytoma, parathyroid adenomas, ganglioneuromas of the digestive tract, and musculoskeletal abnormalities. The case is presented of a 31-year-old male patient with numerous polyps in the colon described as ganglioneuromas which are ectodermal neoplasms emerging from a proliferation of ganglionic cells of the sympathetic nervous system. The results show elevated levels of normetanephrine, which is an endogenous catecholamine metabolite, and has high diagnostic sensitivity as well as specificity in pheochromocytoma detection. The patient underwent partial thyreoidectomy due to a nodular goiter. He was admitted to the Department of Gastroenterology to lead a diagnostic pathway towards MEN 2B.
MEN 2A – multiple endocrine neoplasia type 2A, MEN 2B – multiple endocrine neoplasia type 2B, MTC – medullary thyroid carcinoma, CLA – cutaneous lichen amyloidosis, HD – Hirschsprung’s disease, CT – computed tomography, MRI – magnetic resonance imaginig, PET-CT – positron emission tomography-computed tomography, GP – ganglioneuromatous polyposis, DG – diffuse ganglioneuromatosis, NF1 – neurofibromatosis 1, CS – Cowden syndrome, GI – gastrointestinal
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