title: A Case of Multiple Endocrine Neoplasia Type 2B and Gangliomatosis of Gastrointestinal Tract.
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.
authors.affiliation: Endocrinology and Metabolism Research Institute, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Banafshe
authors.initials: B
authors.lastname: Shahnazari
authors.forename: Aria
authors.initials: A
authors.lastname: Aghamaleki
authors.forename: Bagher
authors.initials: B
authors.lastname: Larijani
authors.forename: Mohammad Reza
authors.initials: MR
authors.lastname: Mohajeri Tehrani
authors.forename: Hasan
authors.initials: H
authors.lastname: Rafati
authors.forename: Abdolreza
authors.initials: A
authors.lastname: Babamahmoodi