Clinical conundrum in the management of complex urogenital anomaly in a child: A case report

Abstract

BACKGROUND

Urogenital anomalies in female paediatric population are well-recognized but can be challenging to diagnose and manage depending on the complexity. Congenital vesicovaginal fistula is an uncommon entity and can present as isolated anomaly or associated with multiple malformations of wide spectrum. We report a rare complex urogenital anomaly case of 2-year-old female child presenting with pyometrocolpos with distal vaginal atresia, congenital vesicovaginal fistula and solitary functioning kidney.

CASE SUMMARY

A 2-year-old female child presented with a febrile urinary tract infection and abdominal distension in acute renal failure. Clinical evaluation revealed lower midline firm, tense, immobile abdominal lump of size 11 cm × 10 cm. External genitalia examination showed 2 openings in perineum with absent vaginal opening. Initial radiological evaluation showed pyometrocolpos with distal vaginal atresia and left solitary functioning kidney. This patient underwent staged management including treatment for acute renal failure and pyometrocolpos decompression, followed by final surgical treatment with the repair of vesicovaginal fistula and pull through vaginoplasty. Immediate postoperative recovery was uneventful but a follow-up visit at 3 months showed vaginal stenosis which was managed with serial dilations. At 18 months follow up, neovaginal opening remains patent with preserved renal function and no other complications.

CONCLUSION

This case report underscores the importance of diligent clinical vigilance and timely intervention in the patients with complex urogenital anomalies.

Key Words: Complex urogenital anomalies; Pediatric; Congenital vesicovaginal fistula; Multiple anomalies; Case report

Core Tip: Diagnosing congenital urogenital anomalies requires a thorough understanding of embryology to recognize the spectrum of possible defects. This case illustrates the diagnostic complexity and need for coordinated urological and gynecological management in patients with rare congenital urogenital abnormalities. Management should be individualized, requiring a multidisciplinary approach, surgical correction when required, and long-term follow-up to prevent complications like stenosis, recurrent infections, infertility. Detailed counseling with parents and guardians is essential for treatment options and their implications.

INTRODUCTION

Complex urogenital anomalies are rare congenital conditions involving abnormal development of the urinary and genital systems, often resulting from disruptions during embryological formation of the urogenital ridge[1,2]. These developmental disruptions can lead to a wide spectrum of structural abnormalities affecting both the urinary tract and reproductive organs, which can significantly affect urinary function, reproductive health, and overall quality of life[3]. Clinical history with thorough examination, high resolution and cross-sectional imaging techniques play a crucial role in the evaluation and diagnosis of complex urogenital anomalies by providing detailed anatomical visualization of the urinary and reproductive structures[4,5].

Congenital urogenital anomalies encompass a wide spectrum of conditions, including renal agenesis, duplicated collecting systems, ectopic ureters, and disorders of genital tract development. A literature review was conducted using databases such as PubMed, MEDLINE, and Google Scholar to identify similar reported cases. Search terms included “complex urogenital anomaly”, “Vesicovaginal fistula”, “Distal vaginal atresia”, “renal agenesis”. Overview of the previous studies indicate that such combined anomalies are uncommon and to our knowledge, only one similar case has been reported, and that was in a young adult[6,7], underscoring the uniqueness of our pediatric presentation. Anomalies like these often presented and also diagnosed late due to variable clinical presentations, emphasizing the importance of reporting unique cases to expand clinical understanding.

The purpose of this case report is to present an unusual and complex presentation of a congenital urogenital anomaly to highlight diagnostic challenges, multidisciplinary management, and the importance of clinical vigilance in improving patient outcomes.

CASE PRESENTATION

Chief complaints

A 2-year-old female child, one of the twins, delivered at preterm with birth weight of 1.4 kg presented with complaints of high-grade fever, abdomen distension and decreased urine output for 1 day.

History of present illness

The fever was of sudden onset and high grade (40.5 °C). The parents also noticed progressive firm lower abdominal distension simultaneously.

Also, there was a decreased urine output over 24 hours compared to her usual pattern.

History of past illness

Patient had history of 2 episodes of Urinary tract infections over 6 months which required admission and intravenous antibiotics at other facilities prior to presentation at our institute.

Personal and family history

No family history.

Physical examination

On examination, there are no signs of virilization. Per abdomen examination showed a firm, immobile abdominal lump of size 11 cm × 10 cm palpable in central part of lower abdomen. External Genitalia appeared normal but with absent vaginal opening and with normally located urethra, anus. No skeletal or vertebral anomalies.

Laboratory examinations

Laboratory investigations revealed raised leukocyte count and serum creatinine of 2.5 mg/dL indicating acute renal failure.

Imaging examinations

Abdominal ultrasound showed two communicating cystic lesions with echogenic debris and a solitary left kidney. Magnetic resonance imaging of the pelvis revealed a well-defined, thick-walled, bilobed cystic lesion (Figure 1) in rectovesical space and causing mass effect over left distal ureter leading to left hydroureteronephrosis (Figure 2) and non-visualization of right kidney. No evidence of any communication seen between genital and urinary tract.

Figure 1 Magnetic resonance imaging. A: Magnetic resonance imaging T2 W midline sagittal image showing pyometrocolpos (orange arrow); B: Coronal T1 post contrast fat saturated sequence demonstrates enhancing pyometrocolpos (orange arrow).

Figure 2  Coronal thick slab static fluid magnetic resonance urogram utilizing single shot fast spin echo demonstrates pyometrocolpos (yellow arrow) and left hydronephrosis (orange arrow).

MULTIDISCIPLINARY EXPERT CONSULTATION

The Department of Radiology and Department of Critical Care consultations for done operative planning and the intensive care management respectively.

FINAL DIAGNOSIS

Based on clinical and radiological findings, a final diagnosis of distal vaginal atresia complicated by a congenital vesicovaginal fistula and a left solitary functioning kidney was made.

TREATMENT

On initial presentation with fever and acute renal failure, the patient was resuscitated, and supportive therapy with empirical antibiotics was initiated. After optimization, cystoscopy with DJ stenting of the left kidney was done resulting in significant improvement of the clinical condition. Percutaneous drainage (PCD) of the pyometrocolpos was done and PCD kept in situ till definitive surgical management. To evaluate for a fistulous communication, a dye study was performed under aseptic conditions via PCD route and through foleys catheterization of bladder. On fluoroscopy, no evidence of fistula was found. DJ stent was removed in the later period after achieving proper pyometrocolpos decompression

Definitive surgical management consisted of a repeat cystoscopy which showed evidence of fistulous opening in the posterior wall of bladder. Exploratory laparotomy was performed with PCD removal. Careful and meticulous dissection was done to isolate the congenital vesicovaginal fistula (Figure 3). Following adequate exposure, fistulous tract was ligated. The procedure was then completed with a pull-through vaginoplasty. Post operative period was uneventful and patient was discharged on day 6.

Figure 3  Intraoperative image of fistulous communication between bladder and blind ending upper vagina (yellow arrow).

OUTCOME AND FOLLOW-UP

The patient remained asymptomatic at follow-up visits; however, at the 3-month check-up, she showed evidence of neovaginal stenosis, which was managed with serial dilations. At the 18-month follow-up, the patient is thriving with preserved renal function and patent neo vaginal opening.

DISCUSSION

Complex urogenital anomalies represent a heterogeneous spectrum of developmental disorders arising from disruption of the closely related embryological pathways of the urinary and genital systems. Distal vaginal atresia, although rare, poses significant diagnostic and therapeutic challenges, particularly when it occurs in association with additional anomalies. While it may present as an isolated defect, its coexistence with abnormalities such as vesicovaginal fistula suggests a more extensive disturbance in urogenital sinus and paramesonephric duct development, raising important questions regarding its embryology and classification within known spectrum[8-10].

The pathophysiological consequences of distal vaginal atresia extend beyond simple outflow obstruction. Progressive accumulation of secretions, resulting in hydrocolpos or hydrometrocolpos, can exert mass effect on adjacent structures, particularly the bladder and ureters, potentially leading to obstructive uropathy[7]. However, the clinical presentation remains highly variable and often nonspecific in paediatric populations, which contributes to delayed or missed diagnosis. This is further complicated in cases with vesicovaginal fistula, where paradoxical symptoms such as continuous urinary leakage or menouria may obscure the underlying obstructive pathology rather than reveal it[11-13].

Although ultrasonography is typically the first-line imaging modality, its sensitivity in delineating complex fistulous tracts and associated anomalies is limited and operator-dependent[4]. Magnetic resonance imaging provides superior soft tissue resolution and multiplanar capability, yet its availability, cost, and need for sedation in young children may restrict its routine use[5]. Consequently, there remains no standardized imaging algorithm, and diagnosis often relies on a combination of modalities, clinical suspicion, and intraoperative findings. This highlights a critical gap in establishing evidence-based diagnostic pathways for such rare anomalies[14].

Management strategies are similarly nuanced and lack consensus due to the rarity and heterogeneity of these cases. While surgical reconstruction aims to restore anatomical continuity and preserve renal function, the timing, approach, and extent of intervention remain debated. Early intervention may prevent complications such as recurrent infections and renal damage, but must be balanced against technical challenges in small children and the potential need for staged procedures[13,15]. Furthermore, long-term outcomes related to continence, reproductive function, and psychosocial impact are not well documented, underscoring the need for longitudinal studies.

Given these complexities, a multidisciplinary approach is essential particularly in resource-limited settings. Reporting rare combinations such as distal vaginal atresia with vesicovaginal fistula is therefore valuable not only for expanding the clinical spectrum but also for identifying patterns that may inform future diagnostic and management frameworks. There remains a pressing need for standardized classification systems, clearer diagnostic algorithms, and outcome-based treatment guidelines to improve care in these uncommon but challenging conditions.

CONCLUSION

Distal vaginal atresia with vesicovaginal fistula with solitary functioning kidney is a rare and complex urogenital anomaly that can present early life threatening complications. Early diagnosis and timely intervention, including drainage and stenting, is crucial to avoid complications like infections and renal impairment. Multidisciplinary approach is essential for optimal management and long-term functional outcomes. Post operative follow up is essential to manage complications like neovaginal stenosis and to achieve optimal results.