A Case of Multiple Endocrine Neoplasia Type 2B and Gangliomatosis of Gastrointestinal Tract

A Case of Multiple Endocrine Neoplasia Type 2B and Gangliomatosis of Gastrointestinal Tract

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 chromoso...

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Main Authors: Banafshe Shahnazari, Aria Aghamaleki, Bagher Larijani, Mohammad Reza Mohajeri Tehrani, Hasan Rafati, Abdolreza Babamahmoodi
Format: Article
Language:English
Published: Hindawi Limited 2012-01-01
Series:Case Reports in Medicine
Online Access:http://dx.doi.org/10.1155/2012/491054
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spelling doaj-5f32f4432a6e4668bf7e6ecea60f1a192020-11-24T23:05:49ZengHindawi LimitedCase Reports in Medicine1687-96271687-96352012-01-01201210.1155/2012/491054491054A Case of Multiple Endocrine Neoplasia Type 2B and Gangliomatosis of Gastrointestinal TractBanafshe Shahnazari0Aria Aghamaleki1Bagher Larijani2Mohammad Reza Mohajeri Tehrani3Hasan Rafati4Abdolreza Babamahmoodi5Endocrinology and Metabolism Research Institute, Tehran University of Medical Sciences, Tehran, IranEndocrinology and Metabolism Research Institute, Tehran University of Medical Sciences, Tehran, IranEndocrinology and Metabolism Research Institute, Tehran University of Medical Sciences, Tehran, IranEndocrinology and Metabolism Research Institute, Tehran University of Medical Sciences, Tehran, IranHealth Management Research Center, Baqiyatallah University of Medical Sciences, Tehran, IranHealth Management Research Center, Baqiyatallah University of Medical Sciences, Tehran, IranMultiple 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.http://dx.doi.org/10.1155/2012/491054
collection DOAJ
language English
format Article
sources DOAJ
author Banafshe Shahnazari
Aria Aghamaleki
Bagher Larijani
Mohammad Reza Mohajeri Tehrani
Hasan Rafati
Abdolreza Babamahmoodi
spellingShingle Banafshe Shahnazari
Aria Aghamaleki
Bagher Larijani
Mohammad Reza Mohajeri Tehrani
Hasan Rafati
Abdolreza Babamahmoodi
A Case of Multiple Endocrine Neoplasia Type 2B and Gangliomatosis of Gastrointestinal Tract
Case Reports in Medicine
author_facet Banafshe Shahnazari
Aria Aghamaleki
Bagher Larijani
Mohammad Reza Mohajeri Tehrani
Hasan Rafati
Abdolreza Babamahmoodi
author_sort Banafshe Shahnazari
title A Case of Multiple Endocrine Neoplasia Type 2B and Gangliomatosis of Gastrointestinal Tract
title_short A Case of Multiple Endocrine Neoplasia Type 2B and Gangliomatosis of Gastrointestinal Tract
title_full A Case of Multiple Endocrine Neoplasia Type 2B and Gangliomatosis of Gastrointestinal Tract
title_fullStr A Case of Multiple Endocrine Neoplasia Type 2B and Gangliomatosis of Gastrointestinal Tract
title_full_unstemmed A Case of Multiple Endocrine Neoplasia Type 2B and Gangliomatosis of Gastrointestinal Tract
title_sort case of multiple endocrine neoplasia type 2b and gangliomatosis of gastrointestinal tract
publisher Hindawi Limited
series Case Reports in Medicine
issn 1687-9627
1687-9635
publishDate 2012-01-01
description 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.
url http://dx.doi.org/10.1155/2012/491054
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