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.
* Multiple endocrine neoplasia type 2B syndrome is distinguished from type 2A by the presence of mucosal neuromas.
* Intestinal neuromas causing obstruction are rare, and usually precede the diagnosis of extra-intestinal endocrine manifestations.