Cloacal Exstrophy - Diagnosis and Treatment

What Is Cloacal Exstrophy?

Cloacal exstrophy affects the formation of the lower abdominal wall in an unborn baby. Since a disruption occurs in the proper formation of the wall, the baby’s urinary bladder and part of the large intestine (colon) get enclosed in a membrane outside the body. The condition also affects the genitals of the baby.

Cloacal exstrophy is a type of congenital disability or congenital urinary anomaly. This means the condition occurs during the development of the baby in the womb and is seen at birth. Following a series of surgeries that begin shortly after birth to correct the disorder, most children with cloacal exstrophy recover well and lead whole lives.

What Effects Does Cloacal Exstrophy Have on a Child?

Cloacal exstrophy is also known as the abbreviation “OEIS” complex or “OEIS” syndrome because it leads to the following problems:

• Omphalocele: An omphalocele (opening) near the belly button in the abdominal muscles allows the urinary bladder, large intestine, and sometimes a few other organs to protrude outside the body. These organs are usually covered in a membrane.

• Exstrophy: The wall of the urinary bladder turns outward (exstrophy), and instead of being round, it lays flat. It may sometimes be split in half. In addition, the pelvic bones and the abdominal muscles don’t join correctly, resulting in the pelvis splaying open like a book.

• Imperforate Anus: The last part of the digestive tract, which is the opening to the anus, where poop comes out, is either blocked or nonexistent. The large intestine (colon) length is too short and may connect to the urinary bladder.

• Spinal Defects: As many as three out of four babies with cloacal exstrophy also present with spina bifida. This is because of the partial or incomplete closure of the spinal cord, which allows a sac of fluid (and sometimes nerves) to protrude through the opening.

Cloacal exstrophy also affects the genitals of infants.

• The penis in the male child may be short, flat, or split into a right and left half.

• The clitoris in the female child is split into a right and left half. There may also be two vaginal openings.

What Causes Cloacal Exstrophy?

The healthcare providers cannot decipher the exact reason why this condition develops in some babies. However, something happens during the first trimester of pregnancy that leads to the rupture of a tissue known as the cloacal membrane. The cloaca is the area in the body where the digestive, reproductive, and urinary systems come together. The cloacal membrane generally separates the organs in these systems. The abdominal wall does not form completely when a rupture or a tear occurs in the cloacal membrane. As a result, the development of these organs does not happen as it should, or they may connect incorrectly. Some organs protrude through an abdominal opening.

What Are the Signs of Cloacal Exstrophy?

The signs of cloacal exstrophy are clearly visible at birth. The baby may have:

• Organs in a pouch (membrane) protrude through a belly opening.

• A sac protrudes through an opening in the back (spina bifida).

• The penis or vagina split into right and left halves.

How to Diagnose Cloacal Exstrophy?

Cloacal exstrophy is often detected in a prenatal ultrasound during pregnancy. One may also get fetal magnetic resonance imaging (MRI), which offers more detailed images of the organs of an unborn baby. These tests may reveal:

• The bladder may not be emptying correctly.

• Small-sized genitalia.

• Separation in the pubic bones (the bones that form the pelvis).

• The connection of the umbilical cord is too low on the baby’s belly due to the omphalocele.

After birth, the baby may be prescribed to get an abdominal ultrasound, MRI (magnetic resonance imaging), or other imaging scans to assess the functioning of the organs and the severity of the disorder. This information allows the healthcare provider to develop the appropriate treatment plan for the child.

How Is Cloacal Exstrophy Treated?

All infants born with cloacal exstrophy require surgery to put the protruding organs into their proper place and close abdominal and spinal openings. The child will need a number of surgeries over several years. This is termed staged reconstruction.

Treatments that may be done soon after birth include:

• Repairing the urinary bladder, placing the protruding organs back into the abdominal cavity, and closing the abdominal opening.

• Creation of a stoma, an opening in the stomach that allows stools to be emptied through the large intestine into a pouch outside the body. This is called a colostomy pouch and may be temporary until other surgeries are performed.

• Closing the void in the spinal cord.

Treatments that may be done during early childhood include:

• Cutting the bones of the pelvis is called an osteotomy or bone surgery. This helps the pelvis to close more efficiently and provides support to the bladder as the child grows.

• Reconstructing the urinary tract and the reproductive organs.

• Creation of an anal opening. If the length of the large intestine is enough, the surgeon may perform a pull-through surgery, which is a procedure to connect the large intestine to the rectum. The surgeon then closes the stoma. As a result, the child would not require a colostomy pouch.

What Are the Complications of Cloacal Exstrophy?

After all the surgical treatments for cloacal exstrophy, most children live active, whole lives. However, some children require additional surgeries later on in their life as they mature.

Cloacal exstrophy increases the risk of:

• Urinary and bowel incontinence.

• Kidney stones, kidney infections, kidney disease, and kidney failure.

• Sexual dysfunction includes erectile dysfunction.

• Infertility.

Conclusion:

Cloacal exstrophy is an uncommon birth disability that affects the urinary, reproductive, and digestive systems and is evident at birth. It has a serious effect on the daily routine of the child. The only treatment option is surgery. The healthcare team will help one plan several surgeries if the child has cloacal exstrophy, with a few additional surgeries to reconstruct the organs involved. With appropriate treatment, most children recover well and enjoy their whole life. Talk to the healthcare provider about any concerns that one may have.