Challenges in umbilical pathology: far beyond the obvious—a case report

Abstract

Background

Umbilical disorders in neonates are frequently benign, with umbilical granulomas, hernias, and transient inflammatory changes representing the majority of presentations. However, persistent or atypical umbilical findings may signal rare congenital anomalies originating from incomplete involution of the urachus or the omphalomesenteric duct. Early recognition of these conditions is crucial to avoid misdiagnosis, unnecessary antibiotic exposure, or delayed referral.

Case Description

We describe a 27-day-old term newborn, previously healthy, who initially presented with a single vesicular scalp lesion in the context of household varicella exposure. During hospitalization, she developed new-onset erythema, edema, and clear umbilical discharge from a pre-existing small reducible umbilical lump. Despite the local inflammatory appearance, she remained clinically well, with normal white blood cell count and a C-reactive protein of 10 mg/L. Urinalysis showed no abnormalities. Abdominal ultrasound (US) demonstrated a tubular hypoechoic structure connecting the bladder dome to the umbilicus, compatible with a patent urachus. Conservative management with topical fusidic acid and antiseptic care led to rapid improvement, with resolution of inflammatory signs within 4 days. The patient was discharged asymptomatic and referred to pediatric surgery, where she remains under outpatient follow-up with elective surgical excision planned.

Conclusions

This case highlights the importance of reassessing neonatal umbilical abnormalities that deviate from typical benign patterns. Early imaging, particularly US, is essential for distinguishing urachal anomalies from more common umbilical conditions and for guiding management. Increased clinical awareness can help prevent underdiagnosis of these rare but clinically relevant lesions.

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Key findings

• This case describes a neonate with persistent umbilical discharge ultimately diagnosed with a patent urachus. It underscores how rare congenital anomalies can mimic benign umbilical conditions and delay appropriate diagnosis.

What is known and what is new?

• Most neonatal umbilical abnormalities are benign and self-limited. Persistent discharge, however, may indicate urachal or omphalomesenteric duct anomalies, with ultrasound (US) being the key diagnostic tool.

• This report highlights an evolving presentation in which initially benign umbilical findings revealed an underlying patent urachus. It demonstrates how careful reassessment and timely imaging change clinical direction. It also shows that conservative management may be effective while awaiting surgical evaluation in stable neonates.

What is the implication, and what should change now?

• Clinicians should promptly reconsider the diagnosis when umbilical symptoms deviate from the expected course. Early US should be incorporated into the evaluation of persistent or atypical lesions to avoid missed urachal anomalies. Increased awareness and structured assessment pathways can prevent underdiagnosis and ensure timely referral for definitive management.

Introduction

Umbilical disorders in neonates are commonly encountered and generally benign, often resolving spontaneously or with minimal intervention. Conditions such as umbilical granulomas and hernias are frequent in primary care or neonatal follow-up consultations. Nevertheless, persistent or unusual umbilical findings—particularly when associated with discharge, erythema, or anatomical abnormalities—may signal congenital remnants from embryologic development of the urachus or the omphalomesenteric duct (1).

This case report presents a newborn with a persistent umbilical lesion initially misattributed to a benign cause. The eventual diagnosis of a patent urachus reinforces the need for vigilance in evaluating neonatal umbilical anomalies. We aim to enhance clinical awareness and discuss diagnostic and management strategies based on current evidence.

Recent reviews also indicate that urachal anomalies may be under-recognised in clinical practice, particularly when umbilical findings are attributed to more common benign conditions. We present this article in accordance with the CARE reporting checklist (available at https://acr.amegroups.com/article/view/10.21037/acr-20251-283/rc).

Case presentation

A 27-day-old newborn, previously healthy, was brought to the emergency department due to a vesicular lesion on the scalp. She was born at 39 weeks +4 days after an uncomplicated pregnancy, spontaneous vaginal delivery, with a birthweight of 3,625 g and Apgar scores of 9/10/10 at 1, 5 and 10 minutes. Neonatal adaptation was normal, with no perinatal complications. She was otherwise asymptomatic, afebrile, and exclusively breastfed. Her sister had recently been diagnosed with chickenpox. Examination revealed a single vesicular lesion on the left temporal region and a small reducible umbilical lump without inflammatory signs, previously known to parents.

During hospitalization for varicella exposure, the patient developed erythema and edema of the umbilical stump with yellowish exudate (Figure 1). Physical examination revealed a 0.5 cm orifice with clear, odorless discharge. There were no systemic signs of infection. Inflammatory markers were reassuring, with a normal white blood cell count and a C-reactive protein of 10 mg/L. Urinalysis was unremarkable.

Figure 1.

Initial presentation of the umbilical stump with erythema, edema, and yellow exudate.

The umbilical discharge was not tested microbiologically, as the infant remained afebrile and clinically stable, without features suggestive of invasive infection. An abdominal ultrasound (US) showed a tubular structure extending from the bladder dome to the umbilicus, with wall thickening and endoluminal air, consistent with a patent urachus. Representative US images have been added (Figure 2) to better illustrate the finding. No additional anomalies were found.

Figure 2.

US image showing a tubular hypoechoic structure extending from the bladder dome to the umbilicus, consistent with a patent urachus. US, ultrasound.

Topical fusidic acid and antiseptic cleaning were initiated. Within 4 days, there was complete resolution of inflammatory signs and exudate, with the orifice of the persistent urachus remaining visible (Figure 3). The patient was referred to pediatric surgery for further evaluation. At follow-up, she remained asymptomatic and is currently under outpatient surveillance, with elective surgical excision planned for the future and no recurrence of umbilical inflammation to date.

Figure 3.

Four days after the application of antiseptic measures and topical fusidic acid.

All procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Declaration of Helsinki and its subsequent amendments. Written informed consent was obtained from the patient’s parents for publication of this case report and the accompanying images. A copy of the written consent is available for review by the editorial office of this journal.

Discussion

Differential diagnosis

Persistent umbilical discharge may indicate several conditions. Umbilical hernia typically presents as a soft, reducible swelling. Umbilical granuloma and polyps, composed of mucosal remnants, can also produce discharge. Failure of urachal involution can result in patent urachus, urachal cyst, sinus, or diverticulum, while persistent omphalomesenteric duct anomalies may manifest with fecal fistulas or Meckel’s diverticulum (1). Omphalitis is another differential, though the absence of fever and purulent discharge makes infection less likely in this case.

Pathophysiology and diagnosis

The urachus, a vestigial structure from the allantois, usually obliterates by the 18^th week of gestation, leaving a fibrous cord. Urachal anomalies are rare, more common in males, and classified as patent urachus (48%), cyst (31%), sinus (18%), or diverticulum (3%) (2-4). Diagnosis requires imaging confirmation. US is the first-line modality due to its accuracy and lack of radiation (5-7).

Recent studies indicate that urachal anomalies may be underdiagnosed, especially in neonates in whom umbilical discharge is attributed to common benign causes. Early imaging significantly increases diagnostic yield (5-7).

Management

Two main strategies exist: conservative management and surgery. Conservative treatment with antibiotics and watchful waiting is appropriate in infants under one year or in cases of infection (3). Surgical resection remains the definitive option for recurrent or symptomatic cases. Laparoscopic approaches are preferred due to better visualization and faster recovery (2,4).

Strengths and limitations

This case report has several strengths. It highlights a rare but clinically relevant neonatal condition, illustrating the importance of considering urachal anomalies when faced with persistent umbilical discharge. The diagnosis was confirmed by imaging and followed through clinical resolution, providing a complete timeline from presentation to outcome. The discussion integrates current literature, supporting evidence-based management in line with recent pediatric surgical recommendations.

However, some limitations must be acknowledged. As an isolated observation, the case does not allow for generalization regarding optimal management or prognosis. Long-term follow-up data were not yet available, and conservative management, though successful here, may not be appropriate for all presentations. Furthermore, the lack of microbiological testing or histopathologic confirmation limits the depth of diagnostic certainty, although the imaging findings were characteristic and clinical presentation supported the diagnosis.

Overall, the case provides valuable clinical insight while underscoring the need for further studies to establish standardized diagnostic and therapeutic protocols for urachal anomalies in neonates.

Conclusions

Persistent umbilical lesions in neonates warrant careful assessment. Recognising that urachal anomalies may be underdiagnosed reinforces the importance of prompt imaging and clinician vigilance. Early recognition of urachal anomalies allows for timely intervention and prevents complications. This case highlights the diagnostic value of imaging and the importance of maintaining a high index of suspicion for rare umbilical pathologies.

Supplementary

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Ethical Statement: The authors are accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved. All procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Declaration of Helsinki and its subsequent amendments. Written informed consent was obtained from the patient’s parents for publication of this case report and the accompanying images. A copy of the written consent is available for review by the editorial office of this journal.