What is it?
Prune belly syndrome (PBS), also known as Eagle-Barrett syndrome, is a rare disorder characterized by partial or complete absence of the stomach (abdominal) muscles, failure of both testes to descend into the scrotum, and/or urinary tract malformations.
PBS is a rare, genetic birth defect affecting about 1 in 40,000 births. About 97 percent of those affected are male. PBS can present with a spectrum of abnormalities ranging from the stillborn infant with severe urogenital and pulmonary problems to the child with little, if any, urologic abnormalities requiring no therapy other than surgery to move an undescended testicle into the scrotum and permanently fix it there.
What are the symptoms of prune belly syndrome?
PBS symptoms vary in severity and can include a wrinkled abdomen, constipation, delay in sitting and walking, difficulties coughing and difficulty urinating. The condition can be categorized on a scale from I-III.
- Category I patients are the most severe and have poor lung and kidney development. These children usually do not survive more than a few days after birth.
- Category II patients do not have lung problems but have significant problems with the urinary tract. They may develop kidney failure over time.
- Category III patients do not have lung problems and their kidney function is not severely impaired.
How is prune belly syndrome diagnosed?
PBS may be suspected due to the appearance of a dilated urinary tract on prenatal ultrasound. Once the child is born the combination of physical exam (wrinkled appearance of the belly wall and the presence of undescended testicles) and radiographic studies to identify the dilated urinary tract make the diagnosis.
The initial evaluation of the newborn with PBS requires a team consisting of a neonatologist, nephrologist, urologist and in some cases, other specialists as well.
How is prune belly syndrome managed?
The goal for management of prune belly syndrome is to preserve kidney function and prevent urinary tract infection. The prognosis varies depending on several factors including the severity of the underlying tract anomaly, how well the kidneys are developed, and the likelihood of renal failure.
Studies have found that 30 percent of individuals with prune belly syndrome require kidney transplantation in their lifetime.
Sometimes surgical intervention for reconstruction of the urinary tract and the abdominal wall is required. Children may be placed on prophylactic antibiotics to help prevent urinary tract infection. Male children with PBS will also require surgery to place the testicles down in the scrotum. All patients require lifelong surveillance because they are at risk for urinary tract infection and decline in kidney function over time.
Despite these concerns, many individuals with PBS report having good physical and mental health as well as a good overall quality of life.