title: Multiple endocrine neoplasia type 2 syndrome presenting with bowel obstruction caused by intestinal neuroma: case report.
abstract: We present the case of a 23-year-old male with a history since early childhood of lip and tongue mucosal neuromas. At the age of 19, he was diagnosed with both medullary thyroid carcinoma and pheochromocytoma within 1 year. These findings, with his marfanoid habitus, led to the diagnosis of multiple endocrine neoplasia type 2 (MEN 2B) syndrome. This was confirmed by a positive RET proto-oncogene. On this admission, he presented with an intestinal obstruction. Abdominal exploration revealed an obstructing tumor mass requiring colectomy, which proved by biopsy to be an intestinal neuroma. This report presents a unique case of a colonic mucosal neuroma causing obstruction in MEN 2B syndrome after the diagnosis of medullary thyroid carcinoma.
authors.affiliation: Tucson Hospitals Medical Education Program, University of Arizona, Tucson, AZ, USA.
authors.forename: Maitreyi
authors.initials: M
authors.lastname: Prabhu
authors.forename: Rami N
authors.initials: RN
authors.lastname: Khouzam
authors.forename: Jonathan
authors.initials: J
authors.lastname: Insel
mesh_terms: D000328:Adult; D018276:Carcinoma, Medullary / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D007414:Intestinal Neoplasms / Q000150:complications* / Q000473:pathology / Q000601:surgery; D007415:Intestinal Obstruction / Q000209:etiology*; D008297:Male; D018814:Multiple Endocrine Neoplasia Type 2b / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D009463:Neuroma / Q000150:complications* / Q000473:pathology / Q000601:surgery; D010673:Pheochromocytoma / Q000150:complications*; D000090063:Proto-Oncogene Mas; D013964:Thyroid Neoplasms / Q000150:complications / Q000175:diagnosis*