Extrophy & Exstrophy

Bladder exstrophy 

When a child is born with the bladder exposed on the outside of the lower abdominal wall—can seem particularly scary. The good news is that, although this is a rare condition, we have treated many national and international children with bladder exstrophy here at Children’s Hospital Boston’s Center for Bladder Exstrophy. Here’s a synopsis of the important aspects of the condition and information on the many support services available to your child and you.

Bladder exstrophy is a complex congenital anomaly, meaning that your child was born with the condition.

Children with the condition are born with the bladder exposed inside-out on the surface of the body.

Bladder exstrophy is very rare: Only about 400 babies are born with bladder exstrophy each year in the United States. It’s more common in male babies than female babies.

Surgery is typically recommended shortly after the baby is born. With treatment, your child should be able to enjoy an active childhood.

Children with bladder exstrophy may need extra treatment with medication or surgery in order to have control over their bladders (urinary continence).

How Children’s approaches exstrophy of the bladder. Although this is a rare condition, we have treated many children with bladder exstrophy from across the country and the world here at Children’s Center for Bladder Exstrophy.

Unique approach to treatment

Some hospitals treat bladder exstrophy using a planned three-stage surgical approach called the Modern Staged Repair of Exstrophy (MSRE). The MSRE approach includes separate stages of initial bladder closure (first stage), epispadias repair (second stage) and a third stage surgical procedure when a child is about 5 years old called Bladder Neck Reconstruction (BNR). This last surgery is a standard operation performed in order to help your child become continent of urine (appropriately dry/without leaking urine).

Instead of this method, at Children’s, we use an approach called the Complete Primary Repair of Exstrophy (CPRE). This involves an advanced single-stage surgical procedure during which the surgeon attempts to bring about all of the benefits of the three stages of the staged MSRE approach. Our single-stage surgical approach is usually performed within the first few days after a baby is born.

Family-based care

Our team is aware of the fact that the family is the most important source of emotional support and comfort for children, so we consider family members a vital component of each child’s health care team. We encourage you to call any time to speak with your child’s nurse or doctor as well as members of our psychosocial support team (a social worker, psychiatric nurse and Child Life specialist).

Bladder / Cloacal Extrophy

By Philip E. Gleason, MD

Bladder and cloacal extrophy are rare conditions in which children are born with an open bladder, and possibly bowel, along the lower abdomen. This section topic will provide introductory information regarding management of these children.

Bladder and cloacal extrophy are rare conditions occurring once per many thousand births. The exact cause of the bladder and possible bowel extrophy is unknown. At early stages of development in-utero, the bladder and bowel are fused together, technically known as a cloacal membrane. As development progresses, the bladder and urinary system separate from the bowel and gastro-intestinal system to form two separate systems by formation a uro-rectal septum. Abdominal tissues also close and form the abdominal wall of muscles and skin covering over the lower abdomen, pelvis, perineum and genitalia. A leading theory of extrophy formation may be an in-uterine bulge, or hernia, of the lower abdominal wall, bladder or cloaca during development. If this hernia then breaks down or ruptures, it may form an extrophy, or open tissue, along the lower abdominal wall. If the hernia forms and breaks down during cloacal formation, a cloacal extrophy in which both the bladder and bowel may be open along the lower abdominal wall may form. If this happens after the bladder and bowel systems have separated, only the bladder and urethra and genitalia may be affected, forming a bladder extrophy . If this happens during the latter stages of bladder closure and urethra and genitalia formation, just the urethra and penis or clitoris may be involved, known as epispadius formation.

The treatment of bladder and cloacal extrophy is complex. Pioneering work has been done by several authors over many years. Much of this pioneering work has been done by Drs Jeffs and Gearhart at Johns Hopkins University . They have pioneered a staged approach to bladder extrophy in which the bladder or cloaca is closed at birth. As the child grows and gets bigger, the epispadius is repaired to prepare the child to be ready to void with toilet training. Finally, as the child progresses with toilet training, further work on the bladder neck to facilitate and help with continence is often performed. Additional work and techniques for epispadius correction have been contributed by Mr. Ransley in England; and Dr. Mike Mitchell from the Children’s Hospital in Seattle, WA, who has also advanced the concept of complete extrophy and epispadius repair in a single operation as a newborn. In this approach, the entire process of closing and re-positioning the bladder within the pelvis, as well as reconstruction of the genitalia with preservation of the urethral plate is performed in one stage as a single operation as a newborn. Currently, operative techniques have improved, and the understandings of epispadius and extrophy have evolved based on the collective work of many Pediatric Urologists.

Bladder and cloacal extrophy are some of the most complex Pediatric Urology diagnoses. Fortunately, as the understanding of extrophy and epispadius progresses, the reconstruction of the urinary tract is improving to provide a good capacity, low pressure bladder. This helps with protection of the kidneys as well as providing a good bladder to hold urine, as well as void, and urinate, spontaneously with good urine control. In addition, although the penis is often small in extrophy boys, genital reconstruction and function is improving.

In children with cloacal extrophy involving the bowels, reconstruction is also improving. Even so, urinary and bowel continence are often challenging as in many respects, we as surgeons are attempting to do anatomically what the body does functionally. These are some of the most complex diagnoses in Pediatric Urology and each child and their management will be individualized in consultation with your Pediatric Urologist.