Pediatric Prune Belly Syndrome

Prune belly syndrome is a rare type of birth defect. The defect can range from mild to severe. It is also known as triad syndrome or Eagle-Barrett syndrome. It includes three main problems:

• Missing muscles or severely weak muscles in the belly (abdomen)
• One or both testicles not in the scrotal sac (undescended testicles)
• Abnormal, large bladder and problems with the kidneys and the tubes that lead from the kidneys to the bladder (ureters)

A child with prune belly syndrome often can't fully empty their bladder. This can cause serious bladder, ureter and kidney problems.

A child with prune belly syndrome may also have other birth defects. Most often, these defects affect the skeletal system, intestines, lungs and heart. Girls may have defects in their external genitals.

Some babies who have prune belly syndrome may die in the uterus at 20 weeks of pregnancy or later (stillborn). Some babies with this condition die a few months after birth.

Experts don't know what causes prune belly syndrome. Some cases have occurred in siblings. This means a gene may be a cause.

It may occur if there is a blockage of the urethra during a baby’s growth in the uterus. The urethra is the tube that drains urine from the bladder to the outside of the body. A blockage prevents urine from flowing through the urinary tract. Urine can reverse flow and cause the bladder to become large.

Prune belly syndrome is not common. It occurs in about 1 in 30,000 to 40,000 births. Most cases occur in boys.

Symptoms can be a bit different for each child. They may be mild to severe. They can include:

• Belly (abdomen) that looks wrinkly with multiple folds of skin
• Bladder causing a bulge in the belly above the pubic bones
• Urinary tract organs easy to feel through the belly
• Outline of the intestines seen through the belly
• No testes in the scrotum (baby boys)
• Trouble sitting upright or walking, because of weak muscles in the belly
• Frequent urinary tract infections (UTIs) if the urinary tract is blocked.

The symptoms of prune belly syndrome can seem like other health conditions. Have your child see their healthcare provider for a diagnosis.

Often prune belly syndrome is diagnosed by ultrasound while a woman is still pregnant. Or a healthcare provider can often make a diagnosis after a newborn baby’s first exam. Children who are diagnosed later often have UTIs. The healthcare provider will ask about your child’s symptoms and health history. The provider will give your child a physical exam. Your child may also have tests such as:

• Intravenous pyelogram (IVP). This is an imaging test that uses an X-ray to see the urinary tract. A contrast dye is given so that the tract can be seen on film. An IVP also shows the rate and path of urine flow through the urinary tract.
• CT scan. This is an imaging test that uses X-rays to see the belly (abdomen) and pelvis. A computer puts the X-ray images together to create pictures of the anatomy.
• Voiding cystourethrogram (VCUG). This is a type of X-ray of the urinary tract. The healthcare provider puts a thin, flexible tube (catheter) into the tube that drains urine from the bladder to the outside of the body (the urethra). The provider fills the bladder with a liquid dye. The provider takes X-ray images as the bladder fills and empties. The images will show if there is any reverse flow of urine into the ureters and kidneys.
• Kidney (renal) ultrasound. This imaging test uses sound waves and a computer to create images of blood vessels, tissues and organs. The test can show internal organs as they function and help assess blood flow through vessels.
• Blood tests. These are done to see how well your child's kidneys work.

Treatment will depend on your child’s symptoms, age and general health. It will also depend on how severe the condition is. Your child may see a urologist. This is a doctor who treats the urinary tract and the male genital tract. 

If your child has mild prune belly syndrome, they may take antibiotics to prevent urinary tract infections.

Some children may need surgery. A vesicostomy is surgery to make a small opening in the bladder through the belly to empty the bladder of urine. Other children may need to have surgery to rebuild the belly wall and urinary tract. In boys, a surgery to advance the testes into the scrotum may be done. This surgery is called orchiopexy.

Talk with your child’s healthcare providers about the risks, benefits and possible side effects of all treatments.

Even with treatment, some children may develop kidney failure.

Call the healthcare provider if your child has:

• Symptoms that don’t get better, or get worse
• New symptoms