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Case Reports in Endocrinology
Volume 2012, Article ID 360328, 4 pages
http://dx.doi.org/10.1155/2012/360328
Case Report

Coexistence of Multiple Endocrine Neoplasia Type 2B and Chilaiditi Sign: A Case Report

1Department of Internal Medicine, Adnan Menderes University Faculty of Medicine, 09100 Aydin, Turkey
2Division of Endocrinology and Metabolism, Adnan Menderes University Faculty of Medicine, 09100 Aydin, Turkey
3Department of General Surgery, Adnan Menderes University Faculty of Medicine, 09100 Aydin, Turkey
4Division of Gastroenterology, Adnan Menderes University Faculty of Medicine, 09100 Aydin, Turkey
5Department of Radiology, Adnan Menderes University Faculty of Medicine, 09100 Aydin, Turkey
6Department of Pathology, Adnan Menderes University Faculty of Medicine, 09100 Aydin, Turkey

Received 8 September 2012; Accepted 26 September 2012

Academic Editors: M. K. Shakir and R. Swaminathan

Copyright © 2012 Deniz Çetin et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

We present a 15-year-old female patient with medullary thyroid carcinoma, marfanoid habitus, and mucosal ganglioneuromatosis. Our case had a RET protooncogene mutation ser836 polymorphism in exon 14 and ser904 polymorphism in exon 15. Our patient is thought to be atypical MEN2B due to the absence of M918T or A883F mutations. Chilaiditi sign is an incidental radiographic finding of a usually asymptomatic condition in which a part of intestine is located between the liver and diaphragm; however, the term “Chilaiditi syndrome” is used for symptomatic hepatodiaphragmatic interposition. The patient had no symptoms as abdominal pain, constipation, diarrhea, or emesis. Incidentally, Chilaiditi sign was diagnosed with chest radiograph and thoracoabdominal CT. Our case is the first in the literature indicating the coexistence of Chilaiditi sign and MEN2B.