Prune belly syndrome is a birth defect that involves three primary symptoms, which include poorly developed muscles of the abdomen, malformation of the urinary tract, and undescended testicles in male infants or malformation of external genitalia in female infants.
The birth defect is classified as a rare disease seen in one of every forty thousand live births. The wrinkled skin over the stomach of the infant resembles a prune, giving the disorder its name. It is often seen in siblings and may have a genetic inheritance pattern, although exact cause for the disease is not yet known.
It is also referred to as Eagle – Barrett Syndrome, Obrinsky Syndrome, Triad Syndrome, deficiency of abdominal musculature, congenital absence of abdominal muscles, Urethral obstruction malformation sequence and abdominal muscle deficiency syndrome.
Diagnosis of prune belly syndrome
The signs of prune belly syndrome are generally apparent at birth to the attending doctor. Some cases where the abnormality of the abdominal muscles is not obvious may require diagnosis via medical tests. A combination of medical history, physical symptoms, clinical examination and pathology tests will be required to make an accurate diagnosis.
This diagnostic tool allows the images of blood vessels, tissues and organs of the renal area to be formed on a computer screen. Alloying the doctor to identify any medical issues with the bladder and kidneys. The test allows the doctor to assess the blood flow through the vessels to check for any abnormalities.
- Voiding Cystourethrogram (VCUG)
This diagnostic test involves x-rays of the urinary tract. A hollow tube, called a catheter, is placed in the urethra. The urethra is the tube that drains urine from the bladder. The bladder is filled with a liquid dye, and a series of x-rays are taken as the bladder fills and empties. The x-ray images can show blockages and reverse flow of the urine into the ureters and kidneys.
- Intravenous Pyelogram (IVP)
Similar to the VCUG, IVP involves the use of a diagnostic imaging technique wherein an intravenous contrast dye is pumped in to study the structure of the urinary tract. An IVP also allows the doctor to see the rate and path of urine flow through the urinary tract. This allows them to check for enlargements as well as blockages in the ureters.
Depending on the severity of the infant’s discomfort a number of blood tests may be conducted to check for infections.
The urine may be tested to check for traces of infection. A kidney functioning test may also be used to check for abnormalities.
As Prune Belly Syndrome tends to affect siblings, special attention is due for pregnancies of mothers who have previously had children with the syndrome, to determine if the second child is affected. A fetal ultrasound is enough to diagnose the condition in this case and the doctor will prepare for the birth of the infant accordingly.
Treatment options for prune belly syndrome
The treatment for prune belly syndrome will depend on the severity of the disorder. The infant is likely to be checked over by a neonatologist who will work along with the obstetrician if the fetal ultrasound has revealed the presence of the birth defect.
A nephrologist may need to be consulted in case there is suspected damage to the kidneys. A pediatric urologist may need to assess the extent of damage there is to the ureters. Treatment will depend on a number of factors including the age of the child, the tolerance for some procedures, and the expected course of the disorder.
For an infant suffering from a mild case of prune belly syndrome, a course of antibiotics may be prescribed to control and prevent urinary tract infections.
In some cases, a surgical procedure may be required to treat the condition. This may involve:
- Vesicostomy: a small opening is made in the bladder through the abdomen to help empty it of urine.
- Orchiopexy: to advance the testes into the scrotum if boys are suffering from cryptorchidism.
- Cystoplasty or reconstructive surgery of the bladder if the bladder is malformed or enlarged.
- Detrusor augmentation: the muscles of the abdomen are strengthened using hip muscles allowing the abdominal muscles to help the bladder function normally.
Other reconstructive surgery could include widening the urethra and remodelling of the abdominal wall in an Abdominoplasty.
In cases of renal failure, kidney transplantation may also be suggested if a donor is readily available. However, child donors are difficult to come by.
In most cases, early surgical intervention is recommended if the severity of the symptoms call for surgery. Statistics collected by the National Institutes of Health, U.S.A., reveal that 30% of infants diagnosed with Prune Belly Syndrome will require a kidney transplant. The high rate of kidney failure is the biggest challenge for infants born with this defect.
References
- https://www.urmc.rochester.edu/encyclopedia/content.aspx?ContentTypeID=90&ContentID=P03105
- https://rarediseases.info.nih.gov/diseases/7479/prune-belly-syndrome
- https://rarediseases.org/rare-diseases/prune-belly-syndrome/
- https://medlineplus.gov/ency/article/001269.htm
Further Reading