Case Report

Multiple Endocrine Neoplasia Type 2 Syndrome Presenting With Bowel Obstruction Caused by Intestinal Neuroma: Case Report

Authors: Maitreyi Prabhu, MD, Rami N. Khouzam, MD, Jonathan Insel, MD

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.


Key Points


* 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.

This content is limited to qualifying members.

Existing members, please login first

If you have an existing account please login now to access this article or view purchase options.

Purchase only this article ($25)

Create a free account, then purchase this article to download or access it online for 24 hours.

Purchase an SMJ online subscription ($75)

Create a free account, then purchase a subscription to get complete access to all articles for a full year.

Purchase a membership plan (fees vary)

Premium members can access all articles plus recieve many more benefits. View all membership plans and benefit packages.

References

1. Multiple Endocrine Neoplasia, Type 2. eMedicine web site article available athttp://www.emedicine.com/med/topic1520.htm.
 
2. Williams ED, Pollock DJ. Multiple mucosal neuromata with endocrine tumors: a syndrome allied to Von Recklinghausen’s disease. J Pathol Bacteriol 1966;91:71–80.
 
3. Rashid M, Khairi MR, Dexter RN, et al. Mucosal neuroma, pheochromocytoma and medullary thyroid carcinoma: multiple endocrine neoplasia type 3. Medicine (Baltimore) 1975;54:89–112.
 
4. Carney JA, Sizemore GW, Hayles AB. C-cell disease of the thyroid gland in multiple endocrine neoplasia, type 2b. Cancer 1979;44:2173–2183.
 
5. Morrison PJ, Nevin NC. Multiple endocrine neoplasia type 2 B (mucosal neuroma syndrome, Wagenmann-Froboese syndrome). J Med Genet 1996;33:779–782.
 
6. Mahaffey SM, Martin LW, McAdams J, et al. MEN 2 B with symptoms suggesting Hirschsprung’s disease: case report. J Paediatr Surg 1990;25:101–103.
 
7. Carney JA, Go VL, Sizemore GW, et al. Alimentary tract ganglion neuromatosis: a major component of the syndrome of MEN type 2B. N Engl J Med 1976;295:1287–1291.
 
8. Demos TC, Blonder J, Schey WL, et al. Multiple endocrine neoplasia (MEN) syndrome type 2B: gastrointestinal manifestations. Am J Roentgenol 1983;140:73–78.
 
9. Cohen MS, Phay JE, Albinson C. Gastrointestinal manifestations of multiple endocrine neoplasia type 2. Ann Surg 2002;235:648–55.
 
10. Miller RL, Burzynski NJ, Giammara BL. The ultrastructure of oral neuromas in multiple mucosal neuromas, pheochromocytoma, medullary thyroid carcinoma syndrome. J Oral Pathol 1977;6:253–263.
 
11. Smith VV, Eng C, Milla PJ. Intestinal ganglioneuromatosis and multiple endocrine neoplasia type 2B: implications for treatment. Gut 1999;45:143–146.