Prune belly syndrome is a rare urinary tract congenital disease. The disorder is characterized by triad of malformations such as dilatation and other abnormalities of urinary tract, lack of abdominal muscles and undescended testicles. The disorder mainly affects males. Because of lack of abdominal muscles, the skin over abdomen area appears wrinkled or similar to ‘prune’, hence the name prune belly syndrome. This syndrome is also known as Eagle Barret syndrome.
The cause of prune belly syndrome remains unknown. Many children born with this disorder die stillborn. Those who survive may die after few days or weeks due to severe lung malfunction or kidney failure.Those with milder form may survive but need many surgical interventions to remodel several anomalies in the urinary tract, abdominal wall and other anatomical areas.
Causes Of Prune Belly Syndrome
The exact underlying cause of prune belly syndrome remains undetermined. In some cases it has been found in association with trisomy 18 and Down syndrome. A genetic mutation was found in one family having history of prune belly syndrome. There are several theories put forth by scientists for its occurrence.
According to one theory it may develop due to malformation of bladder during the development of fetus.Excessive collection of urine can dilate the bladder, as well as other organs of the urinary system. Enlargement of bladder may lead to wasting of the abdominal muscles.
Other researchers believe it is lack of muscle development of abdomen that is responsible for anomaly in the urinary system. Another school of thought believes a defect in the nervous system of the fetus may be responsible for lack of abdominal muscle formation.
Signs And Symptoms Of Prune Belly Syndrome
Prune belly syndrome is a rare disorder which affects 1 out of 30000 live births. The name of this disorder is due to wrinkle formation in the affected neonate’s belly which resembles like ‘prune’. There is a spectrum of symptoms that may vary in severity. They can be categorized according to their severity into 3 categories.
In category 1 the neonate does not survive as the defect is present in lung and kidney. In category 2, the lungs are less affected but the problem is with urinary system. These cases usually develop chronic kidney failure and die few months after birth. In 3rd category the lungs as well as kidney is not severely impaired. The disorder is commonly seen in males.
Some of the common symptoms include:
- Poorly developed abdominal muscles.
- Anomaly in the urinary tract.
- Undecended testis.
- Unusual large bladder.
- Distended ureters.
- Frequent urinary tract infection.
- The abdominal wall is very thin and the folds of intestine can be seen on the abdomen.
- Abnormally large abdomen.
Other symptoms include:
- Abnormality in cardiovascular system such as ventricular septal defect.
- Club foot.
- Malrotation of the intestine.
- Malformation of spine resulting in scoliosis.
Treatment Of Prune Belly Syndrome
Prune belly syndrome is diagnosed with ultrasound, X-ray and intravenous pyelogram tests. Once the radiological evaluation is done, and certain blood tests are done, doctors can determine the exact severity of the disorder.
The most important management goal of children who have survived is to ensure proper kidney function and prevent urinary tract infection. Often several corrective surgeries are required. For example surgery may be required to correct the abdominal wall to repair undescended testis. Lung and kidney problems may need to be addressed often with surgical intervention.
Although the disorder causes many stillbirths or neonatal deaths, there are instances of people who have survived into adulthood after reconstructive surgery of abdominal wall and urinary system.