Management of Hernia of Umbilical Cord with Imperforate Anus in a Neonate: A Case Report Volume 62- Issue 1

Hassan Mahmud¹*, Umar Rehman Shad², Bareera Hurmat², Faiza Ashraf², Muhammad Burhan Ayub¹ and Muhammad Bilal Mirza³

• ¹Senior Registrar, Pediatric Surgery, University of Child Health Sciences and Children’s Hospital, Pakistan
• ²Resident pediatric surgery, University of Child Health Sciences and Children’s Hospital, Pakistan
• ³Associate Professor/Head of department, Pediatric Surgery, University of Child Health Sciences and Children’s Hospital, Pakistan

Received: May 15, 2025; Published: May 30, 2025

*Corresponding author: Hassan Mahmud, Senior Registrar, Pediatric Surgery, University of Child Health Sciences and Children’s Hospital, Lahore, Pakistan

DOI: 10.26717/BJSTR.2025.62.009700

Abstract PDF

Introduction: Hernia of the umbilical cord is congenital herniation of the small bowel into the base of the umbilical cord. It is less commonly associated with other congenital anomalies. Herein, we describe a newborn with a hernia of the umbilical cord along with an imperforate anus.
Case Presentation: A 2-day-old male infant presented to us with meconium being passed through a swelling in the umbilical cord. Examination showed an umbilical swelling with an opening through which the meconium was draining. Buttocks were well developed with an imperforate anus. Ultrasound abdomen and echocardiography were normal. The prone cross-table lateral radiograph showed a high-variety anorectal malformation. After resuscitation, umbilical exploration was done, and perforated Meckel was found. Excision and end-to-end anastomosis were done and a descending colostomy was made for the imperforate anus. Postoperative events were unremarkable and the patient was discharged on the 5th postoperative day.
Conclusion: Hernia of the umbilical cord associated with imperforate anus is a rare and complex anomaly, requiring careful planning and decision-making for treatment as both anomalies require different treatment approaches.

Keywords: Case Report; Hernia of Umbilical Cord; Imperforate Anus; Perforated Meckel’s Diverticululm

Congenital herniation of the small bowel and occasionally other viscera into the umbilical cord due to incomplete closure of the umbilical ring or incomplete return of physiologically herniated bowel back to the abdomen is known as a congenital hernia of the umbilical cord. Herniation extent varies from a small part of the small bowel to the entire small bowel as well, and a portion of the colon may herniate into the umbilical cord [1,2]. Although the frequency of associated anomalies is lower in cases with umbilical cord hernia compared to omphalocele, a recent paper from Ohio documented a greater frequency of complex anomalies associated with this anomaly [3]. Its association with imperforate anus is not reported before to the best of our knowledge. Here, we describe the association between umbilical cord hernia and imperforate anus and discuss treatment options for these conditions in the neonatal period.

Patient Information

A 2-day-old term male infant was brought to the neonatal emergency by his parents due to meconium passage through an umbilical swelling since birth and an imperforate anus. The patient was the first child of the family, and no such anomaly was present in the family. Parents belong to the lower middle socioeconomic status. The antenatal scan did not show any abnormality. The baby was born via normal vaginal delivery at term in a tehsil headquarters in Sharakpur. He was meconium stained but, no aspiration was present. The APGAR score was 7 at 1 min and 9 at 5 mins. His birth weight was 2.3 kg.

Clinical Findings

The patient had 2x2 cm swelling in the umbilical cord on examination. The gut was present in the swelling, attached to the left side of the cord, and a pinpoint opening was visible at the site of attachment, from which the meconium was being drained (Figure 1). The rest of the abdominal examination was unremarkable. During the perineal examination, the patient had well-formed buttocks, a sacrum, and a dimple, but no anal opening was present, and the tip of the coccyx was not palpable (Figure 2). There was a ventral chordee in the penile shaft, which showed concealed hypospadias.

Figure 1

Figure 2

Timeline

The patient was born via normal vaginal delivery at a tehsil headquarters in Sharakpur. They were referred to our tertiary care hospital due to swelling in the umbilical cord and an imperforate anus.

Diagnostic Assessment

The patient was kept fasting, and a nasogastric tube was passed to rule out associated esophageal atresia. Laboratory tests, including CBC, LFTs, BUN, and creatinine, were all within normal limits. The chest x-ray and echocardiogram performed were also normal. Ultrasound of the abdomen and swelling showed herniation of the small bowel into the base of the umbilical cord. The prone cross-table lateral radiograph showed a high-variety anorectal malformation.

Intervention

IV lines were inserted, and fluids were administered for resuscitation. Prophylactic antibiotics were given, and blood grouping and cross-matching were performed. The patient was counseled and informed consent was obtained for surgery. After optimization and investigation, the patient underwent operation 24 hours later. Exploration was carried out through the umbilicus. The umbilical cord was opened, and the ileum was separated from the cord. It was discovered that the perforated Meckel was attached to the cord and was draining meconium through a small hole in the wall of the umbilical cord (Figure 3). The Meckel’s diverticulum was resected along with a segment of the bowel. An end-to-end anastomosis was then performed. In addition, for the imperforate anus, a loop colostomy was created at the distal descending colon. After surgery, the patient was transferred to the surgical neonatal ICU for postoperative care. For the first two days, the patient was kept fasting and clear liquids, followed by regular feeding, which was started after 48 hours. The patient’s recovery was uneventful, and he was discharged with instructions for wound care and colostomy care. A follow-up appointment was scheduled for 7 days later.

Figure 3

Outcome

The newborn showed remarkable recovery postoperatively, with no complications observed.

Follow-Up

The patient had a good wound condition during follow-up and was passing stool from the colostomy. The stitches were removed, and colostomy care was discussed again. The next follow-up was advised after one month. Our next plan is to perform a pressure-augmented distal colostogram and definitive surgery before the stoma is reversed.

Hernia of the umbilical cord is a rare congenital anomaly with an incidence of 1 in 5000 live births [4]. It presents as swelling in the umbilical cord, resulting from the congenital herniation of the small bowel into the base of the umbilical cord through a patent umbilical ring. The etiology of this condition is largely unknown but is often associated with a failure of the complete return of the bowel to the abdomen following the physiological herniation of the gut into the umbilical coelom [4]. Hernia of the umbilical cord (HUC) is classified into four categories:

1. Simple HUC,

2. HUC with intestinal obstruction,

3. HUC with mucosal prolapse, and

4. HUC with bowel evisceration [4,5].

Our case, due to its association with anorectal malformation (ARM), falls into type 2. However, the presence of a perforated Meckel diverticulum causes local rupture of the umbilical cord wall, resulting in a defect in the umbilical cord through which meconium drainage occurs. In instances of larger defects, mucosa starts prolapsing through the opening (type 3). It is suggested to revise the name of this type to “HUC with cord defect with/without mucosal prolapse.” Therefore, our index case can also be categorized as type 3 of HUC [4]. Hernia of the umbilical cord is linked to various anomalies, such as cleft lip and palate, G6PD deficiency, congenital glaucoma, tetralogy of Fallot, congenital amputation of the thumb, ear tag, pulmonary stenosis, small and large bowel atresias and stenosis, short bowel syndrome, PVID, and Meckel syndrome [3-7]. Initially, HUC was regarded as an isolated anomaly with infrequent associations. However, recent data indicate associated anomalies in over half of the patients, including complex and chromosomal defects [3]. Consequently, the recommended workup for omphalocele should also be performed for HUC. To the best of our knowledge, no case of HUC has been reported in association with imperforate anus [7]. Our case presented a challenging scenario due to the simultaneous occurrence of a perforated Meckel’s Diverticulum with Hernia of the Umbilical Cord (HUC) and the presence of an imperforate anus. Managing these coexisting anomalies requires careful planning and decision-making, considering their distinct management approaches.

For high-variety imperforate anus cases, the standard initial step involves the creation of a diversion colostomy, typically performed in the neonatal period [8]. On the other hand, the management of HUC with a Meckel’s Diverticulum entails resection and anastomosis with umbilicoplasty [9]. In our case, we successfully performed both procedures simultaneously. While some may argue for creating an ileostomy at the level of Meckel’s diverticulum resection to avoid multiple procedures and associated risks, managing an ileostomy is often more cumbersome compared to a colostomy. Additionally, an ileostomy would hinder the performance of a pressure-augmented distal colostogram, a crucial test for planning definitive surgery. Therefore, our decision to perform colostomy and Meckel’s diverticulum resection simultaneously was based on careful consideration of the unique challenges posed by each anomaly and the necessity of specific diagnostic procedures.

Hernia of the umbilical cord is a rare anomaly, and even rarer is its association with imperforate anus. The simultaneous presence of these conditions introduces unique management challenges that demand meticulous planning and decision-making.

The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this article.

1. Haas J, Achiron R, Barzilay E, Yinon Y, Bilik R, et al. (2011) Umbilical cord hernias: prenatal diagnosis and natural history. J Ultrasound Med 30: 1629-1632.
2. Gajdhar M, Kundal VK, Mathur P, Gajdhar M (2013) Pitfalls in the umbilical pit: giant hernia of the umbilical cord. BMJ Case Rep bcr2013009381.
3. Menchaca AD, Style CC, Chawla M, Diefenbach KA, Kenney BD, et al. (2023) A Review of Covered Abdominal Wall Defects: Cord Hernias Are Associated with Major Anomalies. J Surg Res 284: 230-236.
4. Mirza B, Ali W (2016) Distinct presentations of hernia of umbilical cord. Journal of neonatal surgery 5(4): 53.
5. Tiwari P, Shukla RM, Joleya MK, Jain S, Ladda AK, et al. (2023) Hernia of umbilical cord: An enigma. Journal of Indian Association of Pediatric Surgeons 28(1): 14-17.
6. Singh IK (2015) Hernia of umbilical cord associated with cleft lip and palate, and congenital glaucoma. J Neonat Surg 4(4): 49.
7. Burns CW, Ogryzlo MA (1938) Congenital hernia into the umbilical cord: two cases associated with persistent cloaca. Can Med Assoc J 39: 438-441.
8. Khalid MZ, Yousaf J, Shabbir MH (2023) Algorithm for failure to pass meconium since birth in neonates. J Neonatal Surg 12: 25.
9. Laezza N, Mafra J, Figueiredo AM, Branco M, Cunha C (2022) Umbilical cord hernia with Meckel's diverticulum. Journal of Pediatric Surgery Case Reports 76: 102140.