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

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.

Chilaiditi Syndrome

“…Colonic interposition is often asymptomatic despite relative higher incidence of radiological evidence [8].…”

Chilaiditi Syndrome in Two Cases Presented with Respiratory Distress Symptoms

“…Its frequency changes between 0.25% and 0.28% and increases with age [1][2][3]. Most of the cases are asymptomatic and detected incidentally, whereas some may have respiratory system symptoms such as respiratory distress and chest pain, some have gastrointestinal system symptoms such as vomiting, abdominal pain, constipation, abdominal distension, and loss of appetite, and some have cardiovascular system symptoms such as tachycardia, arrhythmia, and angina-like chest pain [1][2][3][4][5][6][7]. As a matter of fact, whilst there were only respiratory system symptoms in the first case, both gastrointestinal and respiratory system symptoms were observed in the second case.…”

“…As a matter of fact, whilst there were only respiratory system symptoms in the first case, both gastrointestinal and respiratory system symptoms were observed in the second case. There might be rare cases with multiorgan symptoms [1][2][3][4][5][6][7].…”

“…Our second case was suffering from abdominal distension for the last one year. It may sometimes cause clinical pictures such as volvulus (in cecum, splenic flexure, transverse colon), incarceration, and perforation, which might require emergent intervention [1,[4][5][6][7]. Pseudoobstruction may be encountered in colon (Ogilvie's Syndrome).…”

“…Pseudoobstruction may be encountered in colon (Ogilvie's Syndrome). In addition, coexistence with pulmonary and gastrointestinal malignancies (colon, rectum, gastric) has been reported [1,7]. In the literature, Chilaiditi sign was reported in a 15-year-old girl diagnosed with multiple endocrine neoplasia type 2B [7].…”