A Case of Multiple Endocrine Neoplasia Type 2B and Gangliomatosis of Gastrointestinal Tract. (8th October 2012)

• Record Type: Journal Article
• Authors: Shahnazari, Banafshe; Aghamaleki, Aria; Larijani, Bagher; Mohajeri Tehrani, Mohammad Reza; Rafati, Hasan; Babamahmoodi, Abdolreza
• Other Names: Koch Christian Academic Editor.
• Is Part Of: Case reports in medicine. Volume 2012(2012)
• Publication Date: 2012-10-08
• Subjects: Medicine -- Periodicals; Medicine -- Periodicals; Medicine; Case Reports; Periodicals; 610
• DOI: 10.1155/2012/491054
• Languages: English
• ISSNs: 1687-9627

Abstract

Abstract : Multiple endocrine neoplasia type 2 (MEN2) is a rare familial syndrome caused by mutations in the RET protooncogene and it is transmitted as an autosomal dominant trait. The underlying problem for all the MEN syndromes is failure of a tumour suppressor gene. The genetic defect in MEN2 is on chromosome 10 (10q11.2) and has also been identified both for MEN2A and MEN2B. The reported patient is an 18-year-old girl presented with long-term diarrhea and enterocutaneous fistula. Her thyroid nodules, marfanoid habitus and bumpy lips, were also highly suggestive for MEN2B.