Transverse Colonic Volvulus in a Child with Developmental Delays: A Rare Case Study

Abstract

Transverse colonic volvulus is an infrequent, potentially lethal cause of bowel obstruction. It carries a high mortality rate of up to 33%. Of course, this is no rarer in pediatrics or more particularly in children with developmental delay and other rare syndromes that accompany such conditions. This is a case report of presenting and managing the rare condition of TCV in a 7-year-old boy with developmental delay and genetic syndrome. The patient presented with acute abdominal pain and vomiting, accompanied by an abdominal distension. Imaging studies confirmed the diagnosis through the characteristic feature of the "whirl sign." Prompt surgery involving the resection of the twisted colonic segment along with a primary anastomosis resulted in a favorable outcome. This case underscores the importance of maintaining a high index of suspicion for TCV in pediatric patients presenting with bowel obstruction, especially those with developmental delays. Early diagnosis and surgical treatment will be able to prevent complications.

Introduction

Transverse colonic volvulus is a rare cause of intestinal obstruction due to the twisting of the transverse colon around its mesenteric axis. The mortality rate is as high as 33%, and the condition requires prompt diagnosis and treatment to avoid other grave complications that may already be present, such as necrosis or perforation of the bowel. While TCV is a very uncommon event in the general population, it is even rarer in children, and much more so when experienced alongside developmental retardation and similar rare syndromes. The case study outlines this rare medical condition of TCV in a pediatric patient: presentation, challenges in its diagnosis, and successful surgery.

Case Presentation

A 7-year-old male child with a history of developmental delays and unusual genetic syndrome was brought to the emergency department with acute abdominal pain, abdominal distension, and vomiting. He had been experiencing intermittent constipation and loss of appetite over the past few weeks that have worsened for the past 48 hours before admission. Physical examination revealed a distended tender abdomen, tympanitic on percussion. Bowel sounds diminished. The patient was lethargic.

The initial lab work revealed that the white blood count was elevated indicating an inflammatory or infectious process. This patient was mildly dehydrated, and some imbalances of the electrolytes indicated a metabolic derangement. There was an abdominal radiograph that showed a markedly dilated loop of the transverse colon, which was raising concern for bowel obstruction. Given the patient's clinical history and the radiographic findings, further imaging with computed tomography was done, and it showed the classic "whirl sign" which is indicative of volvulus.

Diagnostic Challenges

TCV is one of the most difficult diagnoses to make, especially in pediatric patients due to its rare nature and the nonspecific nature of presenting symptoms. Most cases of TCV in children often are initially wrong and diagnosed because of the common cause of bowel obstruction through misdiagnosis due to intussusception or Hirschsprung disease. The case in question, therefore, complicated the clinical picture further into a much wider differential diagnosis with the child's developmental delays and an underlying genetic syndrome. Other causes of paralytic ileus, abdominal masses, and functional gastrointestinal disorders were excluded, but the whirl sign on CT was regarded as the only diagnostic feature of TCV.

Pathophysiology of TCV

The underlying pathophysiology of TCV is not fully understood, but it is believed to result from abnormal colonic motility, a long and mobile transverse colon, and abnormal mesenteric attachments. In this case, the patient's developmental delays and associated genetic syndrome may have contributed to abnormal gut motility, predisposing the transverse colon to twist upon itself. Additionally, factors such as chronic constipation, which was present in this patient, are thought to exacerbate the risk of volvulus by causing colonic distension and increased intraluminal pressure.

The rarity of TCV in children, particularly in those with developmental delays, underscores the importance of maintaining a high index of suspicion for volvulus in any pediatric patient presenting with signs of bowel obstruction. Early recognition and intervention are essential for preventing the severe complications of TCV, including bowel ischemia, necrosis, and perforation.

Surgical Management

Given the severity of the patient's condition and the risk of bowel ischemia, the surgical team decided to proceed with an emergency exploratory laparotomy. During the procedure, the transverse colon was found to be twisted 360 degrees around its mesentery, with evidence of compromised blood flow but no signs of necrosis or perforation. The volvulus was carefully detorsed, and the bowel was inspected for viability. Due to the high risk of recurrence, a resection of the affected segment of the transverse colon was performed, followed by primary anastomosis.

In pediatric cases of TCV, the decision between performing a primary anastomosis versus a two-stage procedure with a temporary colostomy depends on several factors, including the viability of the bowel and the overall stability of the patient. In this case, the absence of bowel necrosis allowed for a one-stage resection and anastomosis. The postoperative course was uneventful, and the patient was discharged home after a 10-day hospital stay.

Outcomes and Follow-Up

At a follow-up visit one month after surgery, the patient was doing well, with no signs of bowel dysfunction or recurrence of volvulus. The parents reported an improvement in the patient's appetite and resolution of the intermittent constipation that had been present before the surgery. Regular follow-ups were scheduled to monitor for potential complications, such as stricture formation or recurrent volvulus, which are known risks after colonic resection.

This case highlights the importance of timely surgical intervention in the management of TCV, particularly in pediatric patients with underlying developmental or syndromic conditions. While the outcome in this case was favorable, the high mortality rate associated with TCV underscores the need for early recognition and prompt treatment.

Discussion

There is a paucity of literature available in the current literature on TCV in children, as most of the articles reported herein have been published on adult populations. However, pediatric case reports have suggested children with developmental delay, chronic constipation, or syndromic disorders as higher risk for developing TCV. In such a case, abnormal motility of the gut or anatomical variations within the mesentery can predispose the transverse colon to volvulus. Although it is very rare, TCV should be considered in the differential diagnosis of a child presenting with signs of bowel obstruction, especially if there are risk factors such as developmental delay or a history of constipation.

This case also raises important considerations regarding optimal surgical management of TCV in children. Both procedures may be performed-one stage and two stage procedures-but one should be carefully considered depending on the patient's clinical condition. A one-stage resection and primary anastomosis performed in this case will probably be the preferred procedure if the bowel is viable and the patient is stable. However, in cases of bowel necrosis and sepsis, it may be necessary to use a two-stage procedure with temporary colostomy to minimize the chances of anastomotic failure.

Conclusion

Transverse colonic volvulus is a condition that is rare and life-threatening. It needs a high index of suspicion for its diagnosis, especially in a child who has some developmental delays or other rare syndromes. This case study will illustrate the successful management of TCV in a child, emphasizing early identification and timely surgical intervention. Although the case presented above went off well, there needs to be follow-up over some time to detect any complications and restore long-term bowel health.

This case illustrates this rare cause of bowel obstruction with significant mortality; it is hoped that its discussion will raise consciousness about TCV as a possible cause of bowel obstruction in children, especially those with developmental or syndromic conditions. Early recognition and appropriate surgical management may thus improve outcomes in this rare condition.

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