Transverse Colon Volvulus in A Pediatric Patient with Underlying 3q Duplication Syndrome: A Case Report

Posted By Chua Yen Sheng
Transverse Colon Volvulus in A Pediatric Patient with Underlying 3q Duplication Syndrome: A Case Report

Gender, Age

Female, 9


Transverse Colon Volvulus


A 9-year-old girl presented to our Emergency Department (ED) for multiple episodes (more than 10 episodes) of vomiting with reduced oral intake in one day. The vomitus is brown in color with no fresh blood. Patient had not passed out stool and flatus since the onset of vomiting. It was noticeable by patient’s mother that patient’s abdomen was distended. Otherwise, patient denied fever, recent history of loose stool or blood in stool. Further history from patient’s mother revealed that patient had history of chronic constipation for past 5 years with multiple visits to General Practitioner (GP) clinic during that period. During every visit to the clinic, rectal enema was performed and constipation resolved subsequently. Patient has underlying 3q duplication syndrome (extra copy of genetic material at long arm of chromosome 3), left pulmonary artery stenosis, short stature and global developmental delay, currently under follow up in our pediatric and genetic clinics. Upon arrival to our ED, patient was dehydrated and lethargic looking. Per abdomen revealed distended abdomen with generalized tenderness, however no guarding or rigidity was present. On auscultation, bowels sounds were hyperactive.


Plain abdominal radiograph demonstrated marked dilatation of colon, which resembles “coffee bean” sign. Absence of rectal gas also noted on plain radiograph [Figures 1a and 1b]. Hence, preliminary diagnosis of sigmoid colon volvulus was made. As sigmoid colon volvulus is a rare condition among pediatric population, plain computed tomography (CT) of abdomen was performed for diagnosis confirmation prior surgical intervention. Low osmolarity contrast media (LOCM) was given through nasogastric tube and rectum to assist in visualization of gastrointestinal tract. CT scan showed marked dilatation of cecum, ascending colon and proximal transverse colon with abrupt narrowing at transverse colon [Figures 2a, 2b, 2c and 2d]. Adjacent to this narrowing, there is presence of twisted transverse mesocolon at level of L1-L3 vertebrae, which demonstrated characteristic “whirlpool” sign, likely to be the cause of bowel obstruction [Figures 2e, 2f and 2g]. Proximal rectum and sigmoid colon are collapsed. The small bowels are not dilated and predominantly located within the pelvis [Figure 2h]. No pneumoperitoneum, abnormal bowel wall thickening or intramural gas identified. Minimal free fluid is visualized in the pelvis [Figure 2i]. Overall CT findings are suggestive of transverse colon obstruction with twisted transverse mesocolon. The diagnosis was revised to transverse colon volvulus (TCV). Subsequently, a fluoroscopic lower gastrointestinal (GI) contrast study was performed, which demonstrated gradual tapering of the transverse colon at the level of L2/L3 vertebrae, giving rise to “bird beak” appearance. No contrast media seen passing beyond that point. Rectum, sigmoid colon and descending colon are well opacified with contrast media [Figure 3]. These findings are consistent with CT diagnosis of TCV. Emergency exploratory laparotomy revealed that transverse colon is dilated and extremely redundant. However, no volvulus was identified intra-operatively. Sigmoid colon was neither dilated nor redundant. Ascending colon and cecum are mobile and not fixed to retroperitoneum. On the other hand, hepatic flexure, splenic flexure, descending colon and sigmoid colon are non-mobile and fixed to retroperitoneum posteriorly. Presence of clear peritoneal fluid noted with no intraperitoneal pus or feculent material. Peritoneal washout was done followed by closure of abdominal wall. Although no volvulus was identified intra-operatively, it is highly probable that TCV underwent hydrostatic reduction following per rectal infusion of LOCM during fluoroscopic lower GI contrast study. This hypothesis was made as diagnosis of TCV was supported by imaging findings of transverse colon obstruction with twisted transverse mesocolon as well as intra-operative findings of dilated and redundant transverse colon. Post-operative abdominal radiograph was performed 1 week after laparotomy showed no dilated bowel with residual contrast media in the bowel loops [Figure 4]


In our case, it is hypothesized that hydrostatic reduction of TCV took place as a consequence of per rectal infusion of LOCM during fluoroscopic procedure which was originally planned for diagnostic purpose. Sources from previously published literature stress that barium, water-soluble contrast media or saline were used in hydrostatic reduction of sigmoid colon volvulus historically, as alternative to surgical intervention. Besides that, hydrostatic reduction is also widely used as management of intussusception in pediatric patients. Although, to the best of our knowledge, no literature has ever described the role of hydrostatic reduction in TCV, the possibility of hydrostatic reduction as a therapeutic option for TCV cannot be excluded. TCV is rare, which constitutes approximately 5% of all causes of bowel obstruction. It is a surgical emergency which is associated with a number of complications, including bowel perforation, peritonitis, bowel ischemia/infarction and death. Prompt diagnosis and immediate intervention are required to prevent morbidity or mortality in these patients. Description of TCV was first made in 1932 by Finnish surgeon Kallio, who collected 18 cases. Kallio also stated that, although uncommon, volvulus of this type was possible in the presence of an extremely redundant transverse colon whose flexures were in unusually close proximity. Colonic volvulus is less frequently encountered among pediatric population compared to adult population, particularly in those who are younger than 10 years old. Furthermore, TCV constitutes only 1.5% of all colonic volvulus in pediatric population. Review of literatures suggests that clinical presentation of TCV is often non-specific, which includes constipation, nausea, vomiting, reduced oral intake, lethargy and abdominal pain. These symptoms are consistent with the clinical presentation of our patient. According to the literature and previously published case reports, the risk of TCV among children is associated with chronic constipation, mental retardation, cerebral palsy, global developmental delay and myotonic dystrophy. Since our patient has underlying 3q duplication syndrome, which is an uncommon chromosomal disorder, question was raised regarding relationship between TCV and 3q duplication syndrome. According to the literatures, patients with 3q duplication syndrome may have wide range of clinical presentation, including distinctive facial features, hirsutism, cleft lip or palate, clinodactyly, failure to thrive, global developmental delay, learning difficulty, microcephaly, congenital heart diseases, seizures, genitourinary abnormalities, vision problems, hearing loss and omphalocele. To the best of our knowledge, there is no published literature or case report which describes association between TCV and 3q duplication syndrome. Consequently, the relationship between these two rare entities cannot be established at this moment.


Non-specific clinical presentation and extreme rarity of TCV makes the diagnosis of this condition difficult and challenging to the clinicians. Therefore, radiologists play a significant role as the diagnosis often rely on imaging findings. Conventional radiography is often performed first to confirm presence of bowel obstruction and identify its cause if possible. Lower GI contrast study and CT scan are essential in cases where the cause of obstruction can not be confirmed on plain radiograph. Familiarity with imaging appearance of this condition is very helpful to the radiologists to reach final diagnosis.

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