Prune Belly Syndrome Complicated by Congenital Urinary Fistula in a Neonate: A Case Report from Hargeisa Group Hospital, Hargeisa Somaliland

Abstract

Background

Prune Belly Syndrome (PBS), also known as Eagle–Barrett syndrome, is an uncommon congenital disorder characterized by a combination of abdominal wall hypoplasia, urinary tract malformations, and bilateral cryptorchidism. The condition predominantly affects males and is frequently associated with significant neonatal morbidity and mortality related to renal and pulmonary complications. Congenital urinary fistula formation represents a particularly rare and complex manifestation of this syndrome.

Case Presentation

We report a case of a 2-day-old male neonate presenting to a hospital in a resource-limited setting with respiratory distress and passage of urine via the umbilicus. The patient was born at term via spontaneous vaginal delivery to a mother with no antenatal care. Physical examination revealed a critically ill neonate with a classic “prune-like” abdomen, bilateral cryptorchidism, urine flow from an infected umbilical cord, and associated anomalies including polydactyly and clubfoot. Ultrasonography confirmed bilateral gross hydronephrosis and a urinary fistula communicating with the umbilicus.

Conclusion

This case highlights a classic presentation of PBS, unusually complicated by a congenital urinary fistula. It underscores the profound challenges in managing this complex syndrome in settings with limited resources, where definitive surgical intervention is unavailable. The report emphasizes the critical importance of prenatal diagnosis and the need for a multidisciplinary approach to improve outcomes, which was not feasible in this context. Ultimately, management was restricted to supportive care and antibiotics, illustrating the dire consequences of diagnostic and therapeutic limitations in such environments.The patient was stabilized and referred to a higher center; however, long-term outcome was not available.

Introduction

Prune Belly Syndrome (PBS), alternatively referred to as Eagle–Barrett syndrome, is a rare congenital anomaly defined by a characteristic triad consisting of deficient abdominal wall musculature, bilateral cryptorchidism, and abnormalities of the urinary tract. The condition is believed to originate early in fetal development, most commonly during the first trimester.^1,2

The estimated incidence of PBS is approximately 1 in 30,000 live births, with a marked male predominance accounting for the vast majority of reported cases. Clinically, affected neonates may present with varying degrees of abdominal wall laxity, resulting in the typical “prune-like” appearance, along with urinary tract dilation such as hydronephrosis, hydroureter, and megacystis.^3,4

Management of PBS is complex and often requires surgical correction of urinary tract anomalies, abdominal wall reconstruction, orchiopexy, and long-term supportive care. Outcomes largely depend on the severity of renal and pulmonary involvement.⁵

We report a rare case of PBS in a neonate from a resource-limited setting, uniquely complicated by a congenital urinary fistula, highlighting diagnostic challenges and therapeutic limitations encountered in such environments.

Case Presentation

A 2-day-old male neonate, was brought to Hargeisa Group Hospital with sudden-onset shortness of breath that had been progressive and constant for one day. The respiratory distress was associated with one episode of vomiting and abnormal urine passage via the umbilicus. Other systems were unremarkable. The patient was born at term via spontaneous vaginal delivery with no reported complications during pregnancy or delivery. The mother did not attend antenatal care, take any medications including iron or folic acid, or have any exposure to radiation. There was no history of antepartum bleeding or pre-eclampsia. The neonate cried immediately after birth, passed urine via the umbilicus within the first 24 hours, and passed meconium within 48 hours. There were no episodes of cyanosis, apnea, or jaundice. Feeding was started with mixed feeding, and the neonate had not received any vaccinations. Family history revealed no similar conditions among relatives, and all other siblings were healthy. The mother had a history of khat chewing for over 13 years, and the family resides in Ethiopia. There was no history of chronic skin disease or maternal drug use during pregnancy.

Physical Examination

On general examination, the neonate appeared ill with signs of respiratory distress, tachypnea, and tachycardia. At birth his apgar scores were 4 at 5 minutes and 6 at 10 minutes. Vital signs on admission were Respiratory rate of 72 breaths per minute, with a heart rate of 123 bpm, temperature 37.2°C, O₂ saturation 63%, and rapid blood sugar 94 mg/dL. Head and neck examination revealed head deformity. Abdominal examination showed distension with wrinkling, palpable bilateral kidneys, and urine flow via an infected umbilical cord (Figure 1). Additional findings included polydactyly of the left upper limb, clubfoot of the lower limb, and bilateral cryptorchidism. Chest examination was normal, and heart sounds S1 and S2 were audible without murmurs or added sounds.

Figure 1.

Neonate with prune-like abdominal wall. Bilateral cryptorchidism is visible. The umbilical fistula is noted.

Laboratory investigations revealed leukocytosis with a white blood cell count of approximately 30,000/mm^3,suggestive of sepsis. Hemoglobin level was 11g/dl. Platelets was 320,000/mm^3 other laboratory parameters,including renal function tests and inflammatory markers,were within normal limits. C-reactive protein was not available and serum Creatinine was within normal range for age.

Imaging Findings

Ultrasonography revealed bilateral gross hydro-nephrosis with a fistula via the umbilicus.

Therapeutic Intervention

The patient was started on intravenous antibiotics, including ampicillin (50 mg/kg/dose every 6 hours) and cefotaxime (50 mg/kg/dose every 8hours). Definitive surgical management was not possible in our setting, posing a significant challenge to care, and management was primarily supportive, focused on stabilization and addressing acute complications. The patient was subsequently referred to a higher center (Mahdi Hospital, Hargeisa) for evaluation by pediateric surgical specialist. At the time of referral the patient was alive. However, long-term follow up data and final clinical outcome were not available due to challenges In patient tracking.

Case Discussion

Prune Belly Syndrome (PBS), also known as Eagle–Barrett syndrome, is classically characterized by a triad of urinary tract anomalies, deficient abdominal wall musculature, and bilateral cryptorchidism. The clinical spectrum of PBS is broad, ranging from mild phenotypes to severe forms associated with stillbirth, renal failure, recurrent urinary tract infections, and pulmonary hypoplasia. Although the syndrome predominantly affects males, rare female cases have been reported.^2,4

While these classical features were present in our patient, the additional finding of a congenital urinary fistula draining through the umbilicus represents an exceptionally rare manifestation that has only been sporadically described in the literature.^6,7

Neonates with PBS face a significantly increased risk of early mortality, most commonly due to respiratory failure or overwhelming urosepsis.^8,9 In our case, the presence of respiratory distress at presentation and clinical suspicion of sepsis highlights these well-recognized life-threatening complications, underscoring the importance of early diagnosis and prompt multidisciplinary management to improve outcomes.

Prenatal detection of PBS using obstetric ultrasound plays a crucial role in early diagnosis, parental counseling, and perinatal management planning.¹⁰ In this case, the absence of antenatal care and prenatal ultrasonography contributed to delayed recognition of the condition, limiting opportunities for early intervention and optimized delivery planning, which may have adversely influenced the clinical course.

The etiology of Prune Belly Syndrome remains incompletely understood. Proposed pathogenic mechanisms include abnormal mesodermal development and in-utero urinary tract obstruction, both of which may disrupt normal abdominal wall and genitourinary development.^2,11 The presence of a urinary fistula in this patient may be explained by abnormal persistence of the urachus or defective cloacal partitioning during embryogenesis, resulting in an anomalous communication between the urinary bladder and the umbilicus, a mechanism that has been rarely documented in association with PBS.^6,7,12

Clinically, PBS is often categorized into three groups based on the severity of renal and pulmonary involvement. The most severe form is associated with significant renal dysplasia and pulmonary hypoplasia, frequently resulting in early neonatal death. Intermediate forms present with the classical triad and variable renal impairment, while milder forms demonstrate relatively preserved renal function.^9,10 Based on the presence of respiratory distress and suspected infection, but without confirmed severe renal failure, our patient most closely aligns with an intermediate phenotype, although definitive classification was limited by lack of advanced diagnostic investigations.

Management of PBS is highly individualized and requires a multidisciplinary approach. Standard treatment strategies include surgical correction of urinary tract abnormalities, abdominal wall reconstruction, and early orchiopexy, along with long-term monitoring of renal and pulmonary function.^5,10 In contrast, the management in our setting was limited to supportive care and antibiotic therapy due to lack of access to specialized pediatric surgical services, highlighting the disparity in healthcare resources and its impact on patient outcomes in low-resource environments.

Similar cases reported in the literature emphasize the importance of early surgical intervention in improving urinary drainage and reducing the risk of recurrent infections; however, such interventions remain inaccessible in many low-income settings, contributing to persistently high morbidity and mortality.^7,9 This case therefore underscores a broader public health challenge related to inequitable access to specialized neonatal and surgical care.

The limitations of this report include the lack of advanced imaging modalities, absence of prenatal diagnostic data, and unavailability of long-term follow-up after referral. Additionally, incomplete laboratory evaluation limited full assessment of renal function and sepsis severity. Despite these limitations, this case provides valuable clinical insight into a rare and complex presentation of PBS, particularly highlighting the unusual association with a congenital umbilical urinary fistula and the challenges of management in resource-constrained settings.

Conclusion

This case highlights a rare presentation of prune belly syndrome complicated by congenital urinary fistula in a neonate. It underscores the importance of early recognition of PBS features and the critical role of prenatal screening in improving diagnosis and outcomes. The case also emphasizes the challenges of managing complex congenital anomalies in a resource-limited settings where the access to specialized surgical care is often unavailable. Strengthening prenatal care services and improving access to multidisciplinary management are essential to enhance outcomes in such conditions.

Funding Statement

No funding for this case.

Ethical Approval

In our institute, the ethical approval is not required for publication of case reports, so our hospital is waived for case reports.

Consent for Publication

Written informed consent was obtained from the patient’s parents (Primary Care giver) for publication of this case report and accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal on request.

Informed Consent

Informed consent was obtained from the patient’s parents (Primary Care giver) for the publication of this case report.

Author Contributions

All authors contributed significantly to the work reported, including conception, design, implementation, data collection, analysis, interpretation, editing, proofreading, revising, publishing, agreed on the journal to which the article was submitted, and responsibility for all aspects of the work.

Disclosure

The authors declare no conflicts of interest in this work.