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

Southern Medical Journal
Maitreyi PrabhuJonathan Insel

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.

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Citations

Jul 18, 2006·Journal of the American Academy of Dermatology·Rodrigo Pereira DuquiaHeitor Alberto Jannke
Dec 20, 2007·Oral and Maxillofacial Surgery Clinics of North America·Dolphine Oda
Jan 27, 2009·Arquivos brasileiros de endocrinologia e metabologia·Cleber P CamachoRui M B Maciel

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