BLADDER EXSTROPHY

QUESTIONS AND ANSWERS

Types

The bladder-exstrophy-epispadias-cloacal exstrophy complex shows up in various forms. And the form depends on the severity of the developmental abnormality responsible for it. In the mildest form, there is an opening in the urethra (epispadias). And in the most severe form, there is an opening in the urethra, bladder, and bowel. (cloacal exstrophy).

Classic bladder exstrophy – It is the most common form in which the bladder and the associated structures turn inside out through an opening in the abdominal wall. Classic bladder exstrophy is medium in severity and the bladder is open right from the top of the bladder through the urethra to the tip of the penis.

Epispadias – Boys with this condition have a very short and split urethra. Here the opening is on the upper surface of the penis. On the other hand, girls with epispadias have a urethral opening in between a split clitoris and labia minora.

Cloacal exstrophy – It is a severe congenital defect in which there is generally a membrane-covered area on the abdominal wall. And this area contains all the abdominal contents (omphalocele). The bladder is split into two halves. Males with this have a penis divided into two halves. Females with this condition have a clitoris split in two halves and some may even have two vaginal openings. The opening of the rectum outside of the body is generally missing or small.

Other abnormalities may also include a separation of the pubic bones, a missing lower portion of the bladder which leads to a lack of bladder control (incontinence), etc. Also, there might be an abnormal position of the tubes that carry urine from the kidneys to the bladder (ureters). And it might cause a backup or flux of urine in the kidneys.

Causes

In normal cases, the cloacal membrane temporarily divides the urogenital and anal structures. Then, they break when tissue that will later develop abdominal muscles starts to grow in its place. The bladder exstrophy-epispadias-cloacal exstrophy complex is the result of a developmental abnormality that occurs 4-5 weeks after conception. In this condition, the tissue that will form the abdominal muscles does not replace the cloacal membrane. However, the reason behind this flaw is not known.

The outcomes are an open bladder plate, a low-placed umbilicus, and a separation of the pubic bones. Right above the genital tubercle, the cloacal membrane breaks. It results in a penis that comes with an open dorsal surface which continues with the bladder plate. There are various types of this defect and the type is determined by when the rupture takes place. Thus, it results in different forms of BEEC.

Also, a combination of genetic and environmental factors plays a crucial role in the etiology of the disease. Parental age, male sex, race, certain drugs, and preconception mother exposure to smoking, and alcohol are associated with an increased incidence of BEEC in studies.

Symptoms 

When the bladder gets exposed, babies with bladder exstrophy develop other related problems that affect their urinary system and pelvic bones. These problems have different levels of severity and do not affect every baby. Doctors confirm these by using ultrasound scans and x-rays. Also, these problems may be corrected through a series of operations. The symptoms include:

• Issues with the neck of the bladder and the ring of muscle (sphincter) that squeezes and relaxes to let urine flow from the bladder.
• The bladder has a smaller capacity than normal. That is why it cannot hold much urine.
• The ureters attach to the bladder in a different place than normal
• The middle part of the pelvic bones is split

Other Symptoms.

The doctor will closely examine the child to see what is the condition. Some may need correction with an operation. The more common symptoms are:

• The anus is more forward than usual
• The belly button is lower than usual
• Umbilical and inguinal hernia in which part of the abdominal lining or a part of the intestine comes out through the weak area in the abdominal wall muscles
• Undescended testes, where the testicles are not in their normal place

When the bladder gets exposed, babies with bladder exstrophy develop other related problems that affect their urinary system and pelvic bones. These problems have different levels of severity and do not affect every baby. Doctors confirm these by using ultrasound scans and x-rays. Also, these problems may be corrected through a series of operations. The symptoms include:

• Issues with the neck of the bladder and the ring of muscle (sphincter) that squeezes and relaxes to let urine flow from the bladder
• The bladder has a smaller capacity than normal, which is why it cannot hold much urine
• The ureters attach to the bladder in a different place than normal
• The middle part of the pelvic bones is split

Common Complications:

• Urinary Incontinence: Babies may experience urine leakage due to issues with bladder control.
• Vesicoureteral Reflux: This is the backward flow of urine from the bladder into the ureters, the tubes connecting to the kidneys.
• Repeated Reconstructive Surgery: Some infants may require multiple surgeries to correct or improve bladder function and structure.
• Infertility: In some cases, reproductive health can be affected, leading to challenges in fertility later in life.

Emotional Impact:

In addition to physical complications, bladder exstrophy can significantly impact the emotional well-being of the child and adolescent. Coping with frequent medical visits and the potential for surgeries can be stressful and affect a child’s mental health. Early support and counseling may be beneficial to help navigate these challenges.

By understanding both the physical and emotional aspects of bladder exstrophy, caregivers and medical professionals can better support affected children and their families.

Diagnosis

A prenatal ultrasound examination of a fetus may help discover the low-set umbilical cord, absence of bladder filling, separation of pubic bones, small genitals, and abdominal mass that increases in size with the progression of the pregnancy.

When bladder exstrophy is suspected, specialized evaluations and prenatal care become essential. This involves a referral to a fetal center where a multidisciplinary team conducts a comprehensive assessment. The team typically includes maternal-fetal medicine physicians, fetal imaging experts, pediatric urologists, pediatric surgeons, and neonatologists, all working together to ensure a thorough evaluation and treatment planning.

Advanced Testing and Imaging Techniques:

• High-Resolution Anatomy Ultrasound: Offers detailed views of the fetus to help identify abnormalities.
• Ultra-Fast MRI: Provides additional imaging to assess the condition more accurately.
• Fetal Echocardiogram: Examines the baby’s heart to ensure there are no accompanying cardiac issues.

Using these state-of-the-art imaging technologies, specialists can obtain precise insights into the condition, enabling them to devise a treatment plan tailored to the baby’s unique needs. This approach optimizes outcomes by addressing the complexities of bladder exstrophy early and effectively.

During such an examination, if the fetal bladder is not visible or not functioning normally, it may indicate bladder exstrophy. Additional signs to look for include:

• A bulge in the lower abdomen: This could be a significant indicator of bladder exstrophy.
• An abnormal widening of the iliac crest: This refers to the curved ridge at the top of the pelvic bone.
• In males, a small penis with a displaced scrotum: This is another potential sign to consider.

Detecting bladder exstrophy during pregnancy enables families and healthcare teams to plan ahead for the specialized treatment and surgical intervention required at birth. If not diagnosed prenatally, the condition becomes evident at birth when the bladder is visibly located outside the child’s body. Early diagnosis is crucial for preparing the necessary medical care and ensuring the best possible outcomes for the newborn.

Treatment

The treatment of bladder exstrophy is mostly surgical. It needs a series of corrective surgeries that doctors perform over several years. In the first surgery, surgeons focus on the closure of the bladder so it can hold urine, placement of the bladder inside the pelvis, and closing of the abdominal wall. In certain cases, children with bladder exstrophy may also need a series of surgical procedures to reconstruct the external genitalia.

Doctors usually perform these surgeries before the age of 2 years. Also, they perform the reconstruction of the Bladder neck at approximately 5 years of age. It allows better control of urine and also helps reposition ureters in a better way to prevent urine from backing up into the kidneys.

Thus, after surgical correction and reconstruction, normal kidney function is good. However, some children with this disorder may have to suffer from long-term urinary problems such as kidney infections, kidney stones, and differing levels of urinary incontinence. Other treatments are supportive and symptomatic.

Our surgeons will explain the customized treatment plan before surgery. Before every operation, the surgeon will discuss the operation with you in detail. Also, they will let you know about any worries.

Post Operative Care

After the surgery, urine will drain from the bladder through catheters. Initially, the patient will have an intravenous infusion supplying fluids and medications until the bladder starts to recover. The child will have regular pain relief through an epidural after the operation.

Your Child’s Postnatal Care Team

To ensure comprehensive care, a multidisciplinary team will be involved in your child’s recovery. This team may include:

• Neonatologist: Specializes in the care of newborns.
• Pediatric Urologist: Focuses on urinary tract issues in children.
• Pediatric Anesthesiologist: Manages anesthesia and pain relief.
• Pediatric Orthopedic Surgeon: Addresses any musculoskeletal concerns.
• Social Worker: Provides emotional and logistical support.
• Child Life Specialist: Helps your child cope with the hospital experience.
• Pediatric Psychologist: Assists with any psychological needs.

The child also may have ureteric stents in place. These are thin tubes that drain away urine while the bladder is recovering from surgery.

After the first week, doctors will remove some of the tubes. And they will also remove the drip once the child starts feeding again. Surgeons usually remove the epidural three to five days after the operation. And after seven days, the nurses will remove the ureteric stents (if inserted).

Before removing ureteric stents, we give the child pain relief. However, it may still be uncomfortable. Once your child starts recovering and the doctors review them, he/she will be able to go home. Roughly three months later, the patient will have a cystoscopy to check how the bladder is recovering.

Each member of the care team plays a pivotal role in ensuring your child’s smooth recovery, working together to address both physical and emotional needs.

Patient Stories and Resources for Families Dealing with Bladder Exstrophy

If you’re navigating the challenging journey of bladder exstrophy, you’re not alone. Many families have shared their experiences to offer hope and guidance to others facing similar circumstances. One touching story to explore is Lila’s. Her journey illustrates the strength and beauty found in overcoming adversity.

Patient Stories

• Lila’s Journey: Discover how Lila’s family embraced her condition with courage and resilience. Their story showcases not only the medical hurdles they faced but also the joy and triumphs along the way. It’s a tale of hope, healing, and the power of community support.

Additional Resources

When seeking guidance, consider these crucial resources:

1. Key Considerations for Choosing a Fetal Care Center:
   • Learn about six essential factors that families should evaluate when selecting a fetal center. From expertise in specific conditions to the availability of comprehensive support services, making an informed choice is vital.
2. Educational Videos:
   • Visual resources offer a glimpse into the care and solutions available to families before and after birth. Watching these can provide reassurance and a clearer understanding of the medical journey ahead.

By engaging with these stories and resources, families confronting bladder exstrophy can find important insights and comforting support for their unique journey.

Final Words 

The child will need regular checkups to make sure that everything is alright and that the child is healing without further complications. Even when they grow up, they will still require regular follow-up appointments but maybe less frequently than before.

The Medical City Children’s Orthopedics and Spine Specialists has offices in Arlington, Dallas, Flower Mound, Frisco, and McKinney, TX, and specializes in Children.  As specialists, Doctors Richard Hostin, MD, Shyam Kishan, MD, and Kathryn Wiesman, MD treat children for minor and major medical problems.  We invite new patients to call and make an appointment.  We will see your child quickly and find a solution to get your child back to being the kid he or she is.

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Footnote:

Bladder Exstrophy: National Library of Medicine