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

Banafshe Shahnazari | Zendy; Aria Aghamaleki | Zendy; Bagher Larijani | Zendy; Mohammad Reza Mohajeri Tehrani | Zendy; Hasan Rafati | Zendy; Abdolreza Babamahmoodi | Zendy

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

Author(s) -

Banafshe Shahnazari,

Aria Aghamaleki,

Bagher Larijani,

Mohammad Reza Mohajeri Tehrani,

Hasan Rafati,

Abdolreza Babamahmoodi

Publication year - 2012

Publication title -

case reports in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.2

H-Index - 20

eISSN - 1687-9627

pISSN - 1687-9635

DOI - 10.1155/2012/491054

Subject(s) - medicine , multiple endocrine neoplasia , endocrine system , multiple endocrine neoplasia type 2 , gastrointestinal tract , gastroenterology , mutation , genetics , gene , germline mutation , hormone , biology

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.

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