Egyszerű nézet

dc.contributor.author Sallai, Ágnes
dc.contributor.author Hosszú, Éva
dc.contributor.author Gergics, Péter
dc.contributor.author Rácz, Károly
dc.contributor.author Fekete, György
dc.date.accessioned 2017-01-05T10:55:41Z
dc.date.available 2017-01-05T10:55:41Z
dc.date.issued 2008
dc.identifier 40049109731
dc.identifier.citation pagination=441-446; journalVolume=167; journalIssueNumber=4; journalTitle=EUROPEAN JOURNAL OF PEDIATRICS;
dc.identifier.uri http://repo.lib.semmelweis.hu//handle/123456789/3950
dc.identifier.uri doi:10.1007/s00431-007-0532-x
dc.description.abstract Multiple endocrine neoplasia syndromes (MEN) are genetic disorders with glandular hyperplasia and consecutive malignant neoplasia. MEN type 2B is the least common form of these tumor syndromes. It presents with typical dysmorphic features, mucosal neuromas, ganglioneuromatosis, medullary thyroid carcinoma (MTC) and phaeochromocytoma. The prognosis depends on the presence of MTC. We have surprisingly found two unrelated patients with this syndrome at our department within two weeks. In the medical history of a 17-year-old boy, Crohn's disease had been considered because of abdominal pain and distention. He had marfanoid appearance and previously undergone minor surgeries for a large tongue with neuromas and hypertrophic gums. Two weeks later, a 10-year-old girl presented with a hard palpable mass on her neck. She had thickened lips, neuromas on the tongue and a solitary thyroid nodule. Genetic analysis was carried out in both patients and a heterozygous M918T mutation of the RET proto-oncogene was found. Laboratory tests and imaging studies were consistent with MTC. Phaeochromocytoma was not present. Both patients underwent total thyroidectomy and lymph node dissection. Histological examination confirmed the diagnosis of MTC. In conclusion, the initial diagnosis of MEN 2B should be suspected on the presence of typical facial/oral signs and gastrointestinal symptoms. Hormonal tests and imaging techniques of the thyroid and the adrenals can confirm the clinical diagnosis of MEN 2B and genetic analysis can prove its germline origin.
dc.relation.ispartof urn:issn:0340-6199
dc.title Orolabial signs are important clues for diagnosis of the rare endocrine syndrome MEN 2B. Presentation of two unrelated cases
dc.type Journal Article
dc.date.updated 2016-12-16T12:28:10Z
dc.language.rfc3066 en
dc.identifier.mtmt 1367658
dc.identifier.wos 000253573400013
dc.identifier.pubmed 17576593
dc.contributor.department SE/AOK/K/II. Sz. Gyermekgyógyászati Klinika
dc.contributor.department SE/AOK/K/II. Sz. Belgyógyászati Klinika
dc.contributor.institution Semmelweis Egyetem


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