Prune Belly Syndrome: What It Is and What to Expect
Medically reviewed by Jonathan B. Jassey, DO
Prune belly syndrome, also known as Eagle-Barrett syndrome or abdominal muscle deficiency syndrome, is a rare condition present at birth. It affects about 1 in every 30,000 to 40,000 children. The name describes the way the skin on children's abdomens (bellies) wrinkles, resembling a prune.
Prune belly syndrome is also known as triad syndrome because three anatomical differences define it, as follows:
Partial or complete absence of the abdominal muscles
Undescended testicles (one or both testicles not in the scrotal sac)
Abnormal, large bladder and urinary tract malformation
Prune belly syndrome affects everyone differently. It can involve mild to severe problems with the bladder, ureter (the tube that connects the bladder and kidneys), and kidneys. Other anatomical variations in the skeletal system, intestines, and heart, among other health problems, can also occur. Treatment can range from medication to surgery, based on the severity of the anomalies.
This article describes prune belly syndrome, its causes, symptoms, and diagnosis. It also explains the treatments and outlook for this problem.
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What Causes Prune Belly Syndrome?
The exact cause of prune belly syndrome is unknown. Research indicates that the condition is congenital (present from birth) with no known environmental causes. In 95% of babies affected with prune belly syndrome, the sex assigned at birth is male.
Prune belly syndrome develops as the fetus grows before birth. One theory is that the condition results from a blockage in the urethra (the tube that drains urine from the bladder to the outside of the body). If a blockage exists, urine builds up in the bladder, causing pressure and swelling.
When the fluid drains after birth, it leaves a wrinkled abdomen that resembles a prune. The shriveled skin is more noticeable since there is also a lack of healthy abdominal muscles.
Some cases of prune belly syndrome have occurred in siblings. While this indicates a possible genetic factor to the disease, the link is not well understood.
There is evidence that some cases of prune belly syndrome are caused by human mutations in known genes that regulate the generation of muscles in the genital and urinary organs in embryos. However, this needs further investigation.
The majority of prune belly syndrome cases remain unexplained. Further research is needed to utilize this knowledge in genetic counseling and early detection.
Learn More: What to Know About Megacystis Microcolon Intestinal Hypoperistalsis Syndrome
Prune Belly Syndrome Symptoms
Prune belly syndrome symptoms can vary by individual. They can range from mild to severe. Common symptoms include:
A wrinkly abdomen, with multiple folds of skin resembling the skin of a prune
Abnormal, expanded bladder that causes a bulge in the belly above the pubic bones
Urinary tract organs that can be easily felt through the abdominal wall
Visible outline of the intestines through the abdomen
Undescended testicles
Poor development of abdominal muscles, making it difficult to sit upright or walk
Elongated, dilated, and tortuous (twisted) megaureter (enlarged ureter, the duct from the kidney to the bladder)
Blood and pus in urine
Frequent urinary tract infections (UTIs) due to blockage of the urinary tract
Prune Belly Syndrome Diagnosis
A prune belly syndrome diagnosis may be achieved before a baby is born as a result of the following evidence on prenatal ultrasound:
The pregnant person with a fetus with prune belly syndrome may not have enough amniotic fluid (the fluid that surrounds the fetus). This can result in the fetus being compressed and lead to lung problems.
Prune belly syndrome diagnosis may be suggested with the appearance of a swollen bladder or enlarged kidney on an ultrasound during pregnancy.
Other problems that may be diagnosed on a prenatal ultrasound include heart, stomach, and intestinal problems, abnormal bones or muscles, and underdeveloped lungs.
Prune belly syndrome is usually obvious from birth, but it takes time to determine the location and extent of abnormalities. A physical exam shows the belly wall's obvious wrinkled appearance and undescended testicles in babies assigned male at birth.
In addition to the physical exam, a prune belly diagnosis is made with a combination of the following tests:
Renal bladder ultrasound: This procedure uses sound waves to show kidney function and assess blood flow through blood vessels.
Cystourethrogram: This procedure uses X-rays to take images of the bladder and kidneys as the bladder is filled. A flexible tube (catheter) is inserted into the tube that drains urine from the bladder to the outside of the body (the urethra) to fill the bladder slowly. Additional images are taken during the urination of the liquid.
Blood tests to determine kidney function: These can test how well the kidneys are working and how quickly they are removing waste from the body.
Intravenous pyelogram: This test involves the injection of X-ray dye into a vein in your arm and X-rays of the kidneys, ureters, and bladder as the dye flows through your urinary tract.
MAG III (mercaptualcetyltriglycine) renal scan: This nuclear medicine procedure examines kidney function and the degree of blockage if it exists. An isotope solution (containing mildly radioactive molecules) is injected into your vein to see the kidneys. A gamma camera detects emissions from the isotope to produce images of the kidneys.
Magnetic resonance imaging (MRI)/magnetic resonance urography (MRU): MRI uses a combination of a large magnet, radio frequencies, and a computer to produce detailed images of the body. MTU uses the same process to produce detailed pictures of the kidneys, ureters, and bladder.
Video urodynamic study: This study uses radiographic contrast agents to evaluate how well the bladder stores urine and contracts to empty it.
Prune Belly Syndrome Treatment
Every case of prune belly syndrome is unique, so treatment depends on a person's symptoms, the severity of their condition, age, and general health. Goals for prune belly syndrome treatment include preserving kidney function and preventing urinary tract infections.
Surgery of the abdominal wall and urinary tract reconstruction are often required. When possible, surgeries are combined to reduce the number of operating room trips. These procedures often include:
Abdominoplasty (tummy tuck) to reconstruct the belly and abdominal wall, usually performed early in life when the baby is 4 to 12 months old
Genital orchiopexy surgery to bring the undescended testicles into the scrotum, usually before the child reaches 1 year old
Urinary tract (bladder and ureter) reconstruction surgery, including ureteral reimplantation reflux surgery
Vesicostomy (the surgical creation of a small opening in the bladder through the abdomen to facilitate voiding of urine)
Cystoplasty (bladder reconstruction)
People with prune belly disease are typically born with poorly formed or dilated kidneys. They produce a lot of urine, which is dilute (mostly water, less concentrated than typical urine).
Most people with prune belly syndrome are unable to fully empty their bladders because they lack strong abdominal muscles. This makes them likely to have frequent urinary tract infections. Children may be placed on prophylactic (preventive) antibiotics to help prevent UTIs.
Treating prune belly syndrome typically requires a large multidisciplinary approach involving various medical specialists. Some specialists that may provide treatment and support for associated conditions include:
Physical therapists can fit prune belly syndrome children for garments that help compress the trunk so a child can sit up and develop fine motor skills.
Pediatric pulmonologists (lung specialists) help prevent recurrent debilitating pneumonia (lung infection) with medications and mechanical airway clearance devices (high-frequency chest wall oscillation).
Pediatric nephrologists (kidney specialists) evaluate and preserve kidney function.
Pediatric gastroenterologists (digestive system specialists) and dietitians facilitate proper nutrition and growth, maximize intestinal motility (muscle contractions that move food through the digestive tract), and reduce the risk of constipation.
Orthopedic surgeons, psychiatrists, and others may be needed to evaluate and treat unique problems of older children as the disease progresses and additional problems develop in these areas.
What's the Outlook for Someone With Prune Belly Syndrome?
There is no cure for prune belly syndrome. The outlook for children and adults with this condition varies significantly based on disease severity and the defects involved. Many people have good physical and mental health through adulthood.
Individualized care and improvements in the evaluation, management, and surgical treatment of common defects of prune belly syndrome have improved the overall outlook for survival and quality of life for those affected. Prenatal diagnosis and pregnancy termination have contributed to a declining incidence of prune belly syndrome in developed countries.
While some newborns with prune belly syndrome survive and continue to normal development, others have numerous medical and developmental problems throughout their lives. In some cases, the results are fatal. Severe lung or kidney problems and other severe anatomical differences can cause stillbirth or death within the first few weeks of life.
A significant factor in long-term survival involves the severity of the urinary tract involvement, especially the failure of the kidney to fully develop in the fetus (kidney dysplasia).
Because of the problems caused by their disease, about 67% of people with prune belly syndrome develop kidney failure. Anyone with prune belly syndrome requires lifelong monitoring because they have a high risk of UTIs and kidney decline over time.
What to Do If You Suspect Prune Belly Syndrome in Your Child
The diagnosis of prune belly syndrome is typically made before or at birth. The condition causes physical changes that are hard to overlook. However, some less-severe cases or cases that do not have the typical outward signs of prune belly syndrome may not be noticeable until later in a child's life, resulting in a delayed diagnosis.
A child with prune belly syndrome is likely to get frequent UTIs. Monitor how frequently your child urinates. Signs of a UTI in children include:
An urge to use the bathroom more frequently than normal
Complaint of burning during urination
Cloudy, dark, or bloody urine
Pain or pressure on the lower belly or back
If you suspect that your child has a UTI or other signs of prune belly syndrome, contact your healthcare provider immediately. When newborns are diagnosed, treatments and surgical intervention begin as early as possible to reduce the risk of kidney failure and other complications.
Summary
Prune belly syndrome is a rare condition present at birth that involves problems that range from mild to severe. Babies born with this ailment have three main anatomical differences. These problems include weak or missing abdominal muscles, one or both undescended testicles, and an abnormally large bladder with kidney problems.
Symptoms vary since prune belly syndrome affects each person uniquely. It is common to have frequent UTIs, which can lead to kidney damage. Other anatomical anomalies can impact the intestines, lungs, and heart.
Prune belly syndrome is most often found in utero or at birth. Early diagnosis can help babies get the right treatment as soon as possible for the best results.
The effects of prune belly syndrome are severe or deadly for some babies. However, many babies have minor defects and remain in good physical and mental health through adulthood. No matter the disease severity, anyone with prune belly syndrome needs lifelong follow-up and assessment due to gradual kidney damage and other health problems that often occur.
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