Coexistence of Multiple Endocrine Neoplasia Type 2B and Chilaiditi Sign: A Case Report
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...
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| Format: | Article |
| Language: | English |
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Wiley
2012-01-01
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| Series: | Case Reports in Endocrinology |
| Online Access: | http://dx.doi.org/10.1155/2012/360328 |
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| author | Deniz Çetin Mustafa Ünübol Aykut Soyder Engin Güney Adil Coşkun Serdar Özbaş Alparslan Ünsal Muhan Erkuş |
| author_facet | Deniz Çetin Mustafa Ünübol Aykut Soyder Engin Güney Adil Coşkun Serdar Özbaş Alparslan Ünsal Muhan Erkuş |
| author_sort | Deniz Çetin |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-3dbf81eaf11745e7b8e1c493507aa852 |
| institution | Kabale University |
| issn | 2090-6501 2090-651X |
| language | English |
| publishDate | 2012-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Endocrinology |
| spelling | doaj-art-3dbf81eaf11745e7b8e1c493507aa8522025-02-03T05:54:07ZengWileyCase Reports in Endocrinology2090-65012090-651X2012-01-01201210.1155/2012/360328360328Coexistence of Multiple Endocrine Neoplasia Type 2B and Chilaiditi Sign: A Case ReportDeniz Çetin0Mustafa Ünübol1Aykut Soyder2Engin Güney3Adil Coşkun4Serdar Özbaş5Alparslan Ünsal6Muhan Erkuş7Department of Internal Medicine, Adnan Menderes University Faculty of Medicine, 09100 Aydin, TurkeyDivision of Endocrinology and Metabolism, Adnan Menderes University Faculty of Medicine, 09100 Aydin, TurkeyDepartment of General Surgery, Adnan Menderes University Faculty of Medicine, 09100 Aydin, TurkeyDivision of Endocrinology and Metabolism, Adnan Menderes University Faculty of Medicine, 09100 Aydin, TurkeyDivision of Gastroenterology, Adnan Menderes University Faculty of Medicine, 09100 Aydin, TurkeyDepartment of General Surgery, Adnan Menderes University Faculty of Medicine, 09100 Aydin, TurkeyDepartment of Radiology, Adnan Menderes University Faculty of Medicine, 09100 Aydin, TurkeyDepartment of Pathology, Adnan Menderes University Faculty of Medicine, 09100 Aydin, TurkeyWe 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.http://dx.doi.org/10.1155/2012/360328 |
| spellingShingle | Deniz Çetin Mustafa Ünübol Aykut Soyder Engin Güney Adil Coşkun Serdar Özbaş Alparslan Ünsal Muhan Erkuş Coexistence of Multiple Endocrine Neoplasia Type 2B and Chilaiditi Sign: A Case Report Case Reports in Endocrinology |
| title | Coexistence of Multiple Endocrine Neoplasia Type 2B and
Chilaiditi Sign: A Case Report |
| title_full | Coexistence of Multiple Endocrine Neoplasia Type 2B and
Chilaiditi Sign: A Case Report |
| title_fullStr | Coexistence of Multiple Endocrine Neoplasia Type 2B and
Chilaiditi Sign: A Case Report |
| title_full_unstemmed | Coexistence of Multiple Endocrine Neoplasia Type 2B and
Chilaiditi Sign: A Case Report |
| title_short | Coexistence of Multiple Endocrine Neoplasia Type 2B and
Chilaiditi Sign: A Case Report |
| title_sort | coexistence of multiple endocrine neoplasia type 2b and chilaiditi sign a case report |
| url | http://dx.doi.org/10.1155/2012/360328 |
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