Multiple endocrine neoplasia type 2 syndrome presenting with

Southern medical journal · Nov 2004

Case Reports

Multiple endocrine neoplasia type 2 syndrome presenting with bowel obstruction caused by intestinal neuroma: case report.

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. ⋯ 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.

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- Maitreyi Prabhu, Rami N Khouzam, and Jonathan Insel.
- Tucson Hospitals Medical Education Program, University of Arizona, Tucson, AZ, USA.
- South. Med. J. 2004 Nov 1; 97 (11): 1130-2.
AbstractWe 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.

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Multiple endocrine neoplasia type 2 syndrome presenting with bowel obstruction caused by intestinal neuroma: case report.

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