O2214: Rare Variation of Bladder Exstrophy: A Case Report

Introduction: One of the most severe congenital urinary tract defects is the bladder exstrophy-epispadias complex (BEEC). BEEC represents a variable expression of midline defect involving the abdominal wall, pelvis, and genitourinary system. 1 in 46,500 live births are affected in the US, with a higher incidence in males. Less than 40% of patients develop long-term continence and appropriate bladder growth regardless of surgical interventions. Urethral duplication is also a rare congenital anomaly, with less than 200 cases reported in the literature. However, the association between urethral duplication and complete bladder exstrophy is rare, with only five male cases previously reported. This case report explores the rare variation of BEEC, providing insight into its surgical management and potential outcomes.

Case Description: A male infant born at 36 weeks of gestational age via cesarean with a low birth weight was diagnosed with BEEC to a 23-year-old mother carrier of Gaucher disease. In prenatal ultrasound finding concerning omphalocele, thus due to malformation, he was admitted to NICU for close follow-up and subspecialty evaluation. The patient was found to have bladder exstrophy and epispadias on examination. Surgical correction was delayed until 3 months of age due to the patient being too small to tolerate high-risk surgery, at which point the patient weighed 4kg. The procedure showed an unusual finding of a duplicated and obliterated epispadic urethra and a normal orthotopic meatus with entry into the bladder. The surgical intervention involved the primary closure of the bladder exstrophy. After corrective surgery and inpatient monitoring, the patient voided spontaneously without difficulty, reaching continence through the orthotopic meatus.

Discussion: A literature review indicates a history of reported urethral duplication in BEEC cases, though the condition was often undetected during preoperatrive diagnosis and initial surgeries. Patients generally require lifelong clean intermittent catheterization (CIC) to preserve continence. In contrast, the patient in this case required no further surgical intervention after corrective surgery and experienced successful continence, indicating the possibility of improved outcomes in patients with rare variations of BEEC. The findings in this case focus on the importance of recognizing and addressing urethral duplications during an initial surgical procedure to enhance long-term outcomes.

Conclusion: This rare variation of urethral duplication in BEEC may improve the potential for achieving appropriate continence without extensive surgical interventions and enhanced quality of life. The findings may encourage further exploration into the management and outcomes of similar cases, offering hope for better functional outcomes in BEEC patients.