AI Article Synopsis
- Multiple endocrine neoplasia type 2B (MEN 2B) is a hereditary cancer syndrome involving medullary thyroid carcinoma, pheochromocytoma, parathyroid adenomas, ganglioneuromas, and musculoskeletal issues.
- A 31-year-old male with MEN 2B presented with ganglioneuromas in his colon and elevated normetanephrine levels, which help diagnose pheochromocytoma.
- He underwent partial thyroid surgery for a goiter and was admitted to Gastroenterology for further evaluation of his condition.
Article Abstract
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.
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| http://dx.doi.org/10.26444/aaem/171736 | DOI Listing |
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