Bladder Exstrophy
Exstrophy of the bladder is an abnormality of the bladder and urethra, where the bladder is turned "inside out", not formed completely, and is open to the surface. The urethra and genitalia are not formed completely (epispadius), and the anus and vagina may not be placed in their usual places. Additionally, the pelvic bones are widely separated (diastasis) and the baby has a low set umbilicus.
Exstrophy includes a spectrum of urologic abnormalities that range from mild to severe. Epispadias, the milder form, is a condition where the urethra (the tube that carries urine out of the body from the bladder) opens on the top surface of the penis instead of on the tip. In classic bladder exstrophy, the bladder and related structures are open and located outside the body. The pubic bones, which are normally joined to form in the front of the pelvis, are separated. Cloacal exstrophy, the most complex and severe form of bladder exstrophy, also involves the bowel. (health – cares.net)
Q: What causes exstrophy?
A: Obviously, exstrophy is the result of a problem that occurred during the development of the embryo. What exactly that problem was is unclear. One theory says that something went wrong with the separating, dividing and folding of the cells during the development of the embryo. A second theory says that the muscle and connective tissue over the bladder did not form correctly and the thin layer of skin is not able to hold the bladder and pulls apart.
In the first days, after my daughter’s birth it was suggested that perhaps her exstrophy was a result of a twining process that went wrong. During the first trimester of my pregnancy, I experienced spotting. It went on for about four to five weeks. I continually went to my obstetrician and was monitored closely. At first, my obstetrician thought that I was miscarrying and put me on bed rest. The bed rest helped, but it did not go away entirely. My obstetrician could not find any reason for the spotting. Once it was apparent that I was not miscarrying, my obstetrician wrote the spotting off as, “some women just spot during their pregnancy.” Since that episode occurred around the time that the midsection (the areas that exstrophy affects) was forming, and since there was a history of twins in my family some medical personnel theorized that I had actually become pregnant with twins. Around the time I was spotting, it was theorized that I lost one twin. Instead of my body actually “getting rid” of the twin, my daughter’s developing body absorbed the twin into her own. Because of this “disruption” during this particular time in my pregnancy medical personnel felt that the folding, dividing and separation process of cells was interrupted and altered.
This, of course, is just a theory; no one could say for sure what happened in my case or in any exstrophy birth. One thing is clear, exstrophy is not caused by anything the mother did or did not do during pregnancy. The feeling of guilt is common in every mother. I went over and over what I ate, what I drank, what I did. Remember that poor genetics Dr? It took a while for me to accept that my daughter’s exstrophy was not a result of anything I did. With time knowing this did help to put my mind a little more at ease.
Q: What orthopedic aspects are associated with exstrophy?
A: Each area of the body develops together during a certain time before birth. This includes organs, boney structures, etc. Development of one structure affects another. Since the wall of the bladder and abdomen are opened, so are the bones of the pelvis.
The normal pelvis develops as a ring. It is closed in the front and back and protects the lower portions of the intestinal, urinary and reproductive systems. It also contains the muscles of the pelvic floor, which help to stop urination and provides continence. It is composed of three bones, which begin as flexible cartilage in the embryo, and gradually develops into calcified bone as the baby grows. That is why the surgeons wanted to wrap my daughter’s pelvis and legs. They wanted to take advantage of this window of time and hopefully bring together the pelvic bones before calcification The two pubic bones that join in front are joined with a connective tissue to protect the bladder.
This is one of the affected parts in the anatomy in a child with exstrophy. Since the bladder and the muscles of the abdominal wall are open in front, the pelvis is also open in front. Therefore, this whole area needs to be closed either at the same time or in staged reconstructions.
Cloacal Exstrophy
Babies born with cloacal exstrophy have a larger opening in their abdominal wall and bladder, and the lower intestines are exposed. In addition, they may have abnormalities in the back. They may also have weakness in the feet and legs. The pelvises in these babies are more widely open and sometimes unstable. The hips may also be dislocated. Luckily, my daughter did not have any of the abnormalities in the back, feet or legs.
Q: What surgical procedures are associated with Cloacal Exstrophy?
A: Cloacal exstrophy is on the most severe side of the exstrophy spectrum. It includes abnormalities in the bladder, urethra, and genitalia, large intestine, spine, and lower extremities. Babies also present with an “exstrophy hernia” which is a defect in the abdominal wall above the bladder. This is called an omphalocele.
In general, during the first procedure, soon after birth, the omphalocele is closed, the intestine (the hindgut or large bowel) is removed from the two bladder halves, a colostomy is made, and the two bladder halves are sewn together. Every effort is made to save the entire large bowel (hindgut) because this tissue is very important in fluid and electrolyte conservation. This large bowel segment is added onto the end of the small bowel; it usually is not left with the bladder. Sometimes, it is also possible to close the bladder and omphalocele in the first procedure. This depends on the size of the omphalocele.
With my daughter they were able to close the omphalocele, close the bladder, create a colostomy, but not totally remove the large bowel from the bladder. It was still connected through a fistula. In time, their goal was to separate this completely, but they wanted to allow time for her internal organs, as well as, her body in general to grow.
After this operation, my daughter was back in the NICU and on a respirator. She was sedated pretty heavily the first few days as they were trying to limit her movement and allow her body to heal. It was probably a good thing because once she was weaned from sedation she was her feisty self, pulling at any tubes she could get her hands on and trying to squirm out of the traction they placed her in.
This movement was the cause of one of her complications of the surgery. She was so active and constantly rubbing her legs together and trying to pull them out of traction that she developed pressure sores around her knees. They were deep sores where the skin broke down.
The nurses and surgeons tried several things to try and “wait out” her traction period. These things included putting padding between her knees, trying different ointments, cleaning and wrapping her sores. None of this helped and they ended up taking her down out of traction a week early.
It took weeks to heal those sores. They pussed, drained and were very ugly, angry looking sores. We needed to clean them twice a day and I remember my daughter just wailing. That kind of cry that babies cry where they can’t even take a breath. I imagined it hurt her very much by the way they looked and it made my heart hurt.
Even after we came home we continued cleaning and changing the dressings on her sores. They eventually healed but even now, over a decade later, she still has scars around her knees. My daughter always mentions, “Many people don’t know about my exstrophy, but everyone thinks I’ve had surgery on my knees.”
Q: What additional challenges are associated with Cloacal Exstrophy
A: Besides the obvious urinary and genital problems of cloacal exstrophy, there may be skeletal and gastrointestinal abnormalities, as well. The skeletal problems include vertebral, tethered spinal cord, a myelocystocele (a lesion similar with those seen in spina bifida), and limb abnormalities (which may affect overall growth and/or sensation in some limbs). The gastrointestinal problems include: inguinal hernia, ostomy care, and the possibility of short-gut syndrome which affects nutrition.
For more information go to:
Bladder Exstrophy Links
Cloacal Exstrophy Links:
