Literature DB >> 15586612

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

Maitreyi Prabhu1, Rami N Khouzam, Jonathan 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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Year:  2004        PMID: 15586612     DOI: 10.1097/01.SMJ.0000140873.29381.12

Source DB:  PubMed          Journal:  South Med J        ISSN: 0038-4348            Impact factor:   0.954


  1 in total

1.  Orolabial signs are important clues for diagnosis of the rare endocrine syndrome MEN 2B. Presentation of two unrelated cases.

Authors:  Agnes Sallai; Eva Hosszú; Péter Gergics; Károly Rácz; György Fekete
Journal:  Eur J Pediatr       Date:  2007-06-19       Impact factor: 3.183

  1 in total

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