Overview
Definition:
Bladder exstrophy is a rare congenital anomaly where the bladder, urethra, and external genitalia are not completely formed and lie outside the body, exposed on the abdominal wall
Staged reconstruction involves a series of surgical procedures designed to close the abdominal wall, reconstruct the bladder and urethra, and correct associated anomalies like epispadias.
Epidemiology:
The incidence varies globally, approximately 1 in 20,000 to 50,000 live births
It is more common in males than females, with a male-to-female ratio of approximately 2:1
Associated anomalies of the kidneys, ureters, and musculoskeletal system are common.
Clinical Significance:
This condition presents significant challenges for urinary continence, sexual function, and body image
Early and comprehensive surgical management is crucial to optimize functional and cosmetic outcomes, prevent complications like UTIs and renal damage, and improve quality of life.
Clinical Presentation
Symptoms:
Visible defect of the bladder and external genitalia at birth
Absence of a normal anterior abdominal wall and bladder closure
Exposure of the posterior bladder wall and ureteral orifices
Epispadias in males, often with a bifid clitoris and short urethra in females
Undescended testes are common in affected males
Incomplete closure of the pubic symphysis is a hallmark.
Signs:
A red, moist, and everted bladder mucosa protruding from the lower abdomen
Widely separated pubic bones (diastasis of the pubic symphysis)
Ambiguous genitalia or severe epispadias
Absent or malformed umbilicus
Often associated with other congenital anomalies.
Diagnostic Criteria:
Diagnosis is typically made at birth by physical examination
Prenatal diagnosis is possible via ultrasound in the second trimester, though often missed
The hallmark is the anterior abdominal wall defect exposing the bladder and genitalia.
Diagnostic Approach
History Taking:
Detailed family history for similar anomalies
Gestational history, including any prenatal ultrasounds
Assessment for other congenital anomalies in the neonate
History of urinary tract infections or poor weight gain in infants with untreated exstrophy.
Physical Examination:
Thorough assessment of the abdominal wall defect, bladder, urethra, and external genitalia
Palpation of the pubic symphysis to assess diastasis
Examination of the entire genitourinary system for associated anomalies
Complete physical exam to rule out other syndromic associations.
Investigations:
Renal ultrasound to assess for hydronephrosis, renal agenesis, or other upper tract anomalies
Voiding cystourethrogram (VCUG) may be performed after initial closure to assess bladder neck function and rule out reflux
Bone age and skeletal survey may be indicated for pubic symphysis diastasis
Chromosomal analysis in select cases.
Differential Diagnosis:
Prune belly syndrome (though usually associated with absent abdominal musculature)
Cloacal exstrophy (a more complex anomaly involving bladder, intestines, and cloaca)
Gastroschisis and omphalocele (abdominal wall defects without bladder involvement)
These differ significantly in the organs involved and management.
Management
Initial Management:
Immediate protection of the exposed bladder mucosa with sterile, moist dressings
Application of a sterile plastic film or bag to prevent drying and contamination
Administration of prophylactic antibiotics to prevent infection
Nutritional support and fluid management.
Surgical Management:
Staged reconstruction is the standard
Phase 1: Neonatal period (within 48-72 hours of birth) – complete penile (for males) and bladder closure, with bony pelvic osteotomy to bring the pubic bones together and secure them
Phase 2: Typically performed between 6-12 months – bladder neck reconstruction for continence, often with ureteral reimplantation if reflux is present
Phase 3: Further procedures may be needed for functional and cosmetic improvement, including feminizing/masculinizing genitoplasty, and potentially creating a continent diversion if continence is not achieved.
Surgical Indications:
All cases of bladder exstrophy require surgical intervention
The timing and sequence of procedures depend on the severity of the defect and the presence of associated anomalies.
Postoperative Care:
Strict wound care and infection prevention
Pain management
Monitoring of urine output
Nutritional support
Gentle handling to protect the surgical repairs
Gradual mobilization after osteotomy
Long-term urological and orthopedic follow-up.
Complications
Early Complications:
Wound dehiscence or infection
Bladder dehiscence
Persistent pubic diastasis
Hemorrhage
Urinary tract infection
Injury to surrounding structures during surgery
Failure of initial closure.
Late Complications:
Urinary incontinence (stress and urge incontinence)
Recurrent UTIs
Bladder stones
Ureteral obstruction or reflux
Renal insufficiency
Sexual dysfunction (erectile dysfunction, infertility)
Hernias at the incision sites
Staged revisions may be needed for improved function and cosmesis.
Prevention Strategies:
Meticulous surgical technique
Appropriate use of pelvic osteotomy to reduce tension on the repair
Effective wound care and antibiotic prophylaxis
Careful management of the bladder neck and ureteric reimplantation
Close post-operative monitoring.
Prognosis
Factors Affecting Prognosis:
Successful initial closure
Achievement of urinary continence
Prevention of renal damage
Successful management of epispadias and sexual function
Absence of severe associated anomalies
Patient adherence to long-term follow-up.
Outcomes:
With staged reconstruction, many patients can achieve good functional outcomes with improved continence and renal preservation
However, complete continence is a significant challenge and may require further interventions
Sexual function can be significantly impacted, and cosmetic results vary.
Follow Up:
Lifelong follow-up with a multidisciplinary team including urologists, orthopedic surgeons, and potentially pediatricians, psychologists, and gynecologists/andrologists
Regular renal function monitoring, urodynamic studies, and assessment of continence and sexual health are essential.
Key Points
Exam Focus:
The staged approach to bladder exstrophy reconstruction is key: neonatal closure with osteotomy, followed by bladder neck reconstruction and eventual genitoplasty
Understand the anatomical defects and associated anomalies
Recognize common complications like incontinence and UTIs
DNB/NEET SS questions often focus on the surgical steps and management principles.
Clinical Pearls:
Early intervention (within the first 48-72 hours) is crucial for optimal outcomes in bladder exstrophy repair
Aggressive management of UTIs is paramount to protect renal function
In males, preservation of penile erectile tissue during epispadias repair is a major goal
Multidisciplinary care is essential for holistic patient management.
Common Mistakes:
Delaying surgical closure beyond the neonatal period
Underestimating the importance of pelvic osteotomy in reducing tension
Inadequate bladder neck reconstruction leading to persistent incontinence
Neglecting long-term renal function monitoring
Poorly managed epispadias repair leading to significant sexual dysfunction.