PC2163: Chilaiditi Syndrome - A Difficult to Diagnose Case in a Military Basic Trainee

Introduction: We present a case of an 18-year-old military basic trainee who after multiple inpatient admissions and exhaustive work-up was diagnosed with Chilaiditi Syndrome, a rare disorder characterized by air-filled loops of colon transposed between the liver and anterior chest wall/diaphragm.

Case Description: An 18-year-old previously healthy male in week two of Air Force Basic Training initially presented to the Emergency Department with complaints of severe generalized abdominal discomfort, bloating sensation, and nausea, who was found to have a markedly distended and tympanitic abdomen on exam. CT Abdomen/Pelvis obtained showed significant colonic distention (Image 1). The bowel was decompressed with subsequent improvement in symptoms. Days after discharge, symptoms returned with persistent severe abdominal pain, bloating, nausea, and inability to pass flatus. He was re-admitted for 12 days – a rectal tube was utilized for decompression and he was started on Erythromycin for presumed chronic intestinal pseudo-obstruction. He was discharged back to the barracks on Rifaximin. He was re-admitted the day after discharge following abrupt return of symptoms and was switched from Rifaximin to Prucalopride. Extensive work-up over the course of the four admissions, spanning approximately 45 days, included: anorectal manometry, colonoscopy, esophagogastroduodenoscopy, rectal biopsy testing for Chagas disease vs. Hirschsprung, Cystic Fibrosis gene mutation testing, autoimmune antibody work-up and a broad viral panel (TORCH, EBV, ESV, HSV) – with no indication as to the cause of his presentation and radiographic findings. On his fourth readmission, an additional repeat CT Abdomen/Pelvis with rectal contrast showed a portion of his colon stuck over the dome of the liver (Image 2). At this time, colorectal surgery recommended right and transverse colectomy of redundant colon that was likely the cause of Chilaiditi Syndrome.

Discussion: This case describes a complex and prolonged presentation of Chilaiditi Syndrome, a rare disorder. Serial imaging (both KUB and CT Abdomen/Pelvis) over the course of his illness did not initially raise concern for Chilaiditi Syndrome, potentially due to the degree of dilation of his redundant colon and transient, or incomplete, colonic interposition. Chilaiditi sign (seen radiographically in asymptomatic patients) is estimated to occur in approximately 0.025% of the general population, with only 30 cases of Chilaiditi Syndrome described in the literature for pediatric patients. Thus, this case highlights the difficulty in diagnosing a rare disorder.

Conclusion: Given the severity of the patient’s presentation, prolonged hospital course and eventual surgical treatment, he was removed from military service due to Chilaiditi Syndrome complicated by redundant colon. Chilaiditi Syndrome in the pediatric population has not been well documented in the literature and should be considered in the differential diagnosis of a child presenting with abdominal pain, nausea, and distention of unknown cause.