CASE REPORT
Ganglioneuromatous polyposis associated with type 2 B multiple endocrine neoplasia (MEN 2B) – case report
1
Department of Gastroenterology with Endoscopy Unit, Medical University, Lublin, Poland
2
Military Medical Institute, Warsaw, Poland
Corresponding author
Anna Rycyk-Bojarzyńska
Department of Gastroenterology with Endoscopy Unit, Medical University, Lublin, Poland
Department of Gastroenterology with Endoscopy Unit, Medical University, Lublin, Poland
KEYWORDS
multiple endocrine neoplasia type 2 (MEN2)ganglioneuromatous polyposisganglioneuromapheochromocytomamultiple endocrine neoplasia type 2B (MEN2B)
TOPICS
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.
ABBREVIATIONS
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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