What is Prune Belly Syndrome (PBS)?
Prune belly syndrome is characterized by wrinkling of skin over the abdominal area giving it the typical “prune-like” appearance. This is caused by loss of muscle strength over the abdominal area. Let us understand about the symptoms, causes, diagnosis and treatment of prune belly syndrome in detail.
Prune belly syndrome or PBS, (also known as Eagle-Barrett Syndrome or Triad syndrome) is a triad of abnormalities as listed below:
- Weakness of the abdominal muscles (absence of muscles in some cases)
- Failure of testicles to descend, i.e. a condition in new-born where one or both testicles fail to descend into the scrotal sac
- Abnormal expansion of bladder along with issues in the upper urinary tract (may or may not include the bladder, ureter and kidneys).
This condition is more common among males than females and the severity of the symptoms can vary from one person to another. In some cases, Prune belly syndrome can lead to severe kidney and lung issues often resulting in stillbirth. In other cases, Prune belly syndrome may be limited to just urological issues.
Causes of Prune Belly Syndrome
The actual causes of Prune belly syndrome are still unknown. Studies are being conducted to understand the underlying causes of this condition and come up with better treatment plan. At present it is believed that prune belly syndrome is associated with genetic issues. It occurs in close association with trisomy 21 or Down syndrome and trisomy 18. Cases have been reported with mutation in CHRM3 gene.1 Some researchers believe the condition may be caused due to blockage in the urinary tract causing the urine to flow back into the urinary bladder and thus enlarging the bladder. Some theories also suggest that the urinary issues may be caused due to underdevelopment of the bladder.
Symptoms Associated with Prune Belly Syndrome
As mentioned above, the symptoms of Prune belly syndrome vary from one individual to other. The extent of the syndrome varies from mild to severe. The most commonly noted symptoms are as discussed below:
- Wrinkly appearance over the abdomen with multiple skin folds.
- Presence of an abdominal mass over the pubic bone possibly due to expanded bladder.
- The urinary tract and associated organs may be easily felt through the abdominal area.
- Visualization of peristalsis over the abdominal area, i.e. worm like movement of the intestine while shifting food forward.
- In males, the testes might be absent in the scrotum.
- Difficulty in walking and maintaining upright posture due to weakness of abdominal muscles.
- Frequent episodes of urinary tract infections in children.
There may be other symptoms which may resemble other medical conditions. It is very important to consult a specialist to differentiate related symptoms from unrelated symptoms.
Diagnosis of Prune Belly Syndrome
As seen with other rare genetic diseases, the diagnosis of prune belly syndrome can be very challenging. In most of the cases, the diagnosis begins with taking patient’s medical history, existing symptoms, physical examination followed by some laboratory testing. Testing resource known as GTR or Genetic Testing Registry provides us all the necessary information required for genetic testing of this condition. Detecting renal anomalies in the early stages during antenatal check-ups can help to provide timely treatment and reduce complications of PBS.2
A large number of cases are detected through fetal ultrasound when the woman is pregnant. Most of the cases are diagnosed as soon as the child is born based on the presence of the triad symptoms.
Other diagnostic tests that help to confirm the diagnosis of Prune belly syndrome include:
Renal Ultra-Sonography. It is a specialized diagnostic imaging procedure that uses high frequency sound waves to create images of organs, vessels and tissues with the help of a computer.
VCUG (Voiding Cystourethrogram). It is a highly specific X-ray that takes images of the urinary tract. The procedure is carried out by placing a hollow tube into the urethra while filling a dye into the bladder. As the bladder fills up or empties, x-ray images are captured. This technique is used to detect any reverse flow of urine into kidneys or the ureters.
IVP (Intravenous Pyelogram). This is another highly specialized imaging technique that is used to view the urinary tract using X-ray. In this technique, an intravenous contrast dye is injected such that the structure is visualized on a film. This technique also reveals the path and rate of the urine flow through the tract.
Blood Tests. Blood tests are used to assess kidney functions, which give an idea of the existing condition and help to plan appropriate treatment.
Treatment of Prune Belly Syndrome
Treatment of Prune belly syndrome depends on the severity of the symptoms. Other factors that influence the treatment plan are as listed below:
- Patient’s age, past medical history and overall health status of the child
- Patient’s tolerance level to certain medications and procedures
- Expected course of the disease based on the current symptoms.
In mild cases of Prune belly syndrome, the patient is often maintained on precautionary antibiotic therapy to prevent infections. In other cases, the patient may be referred to an urologist. Some cases of Prune belly syndrome may require vesicostomy, where a small opening is made through the abdomen into the bladder. This makes it easy to empty to the bladder. In other severe cases, extensive surgical remodeling of the abdominal wall and urinary tract may be required. Males may need to undergo a procedure called as orchiopexy, where the testes is advanced into the scrotum.
Prognosis of Prune Belly Syndrome
The prognosis of Prune belly syndrome depends on the severity of the symptoms and the extent to which the condition has progressed. Some affected children are still born while some may not live for too long after birth. Children with mild syndrome can grow and lead a fairly normal life, provided they are monitored by a physician on a regular basis. It is not uncommon for these children to have medical problems through-out their life. It has been noted that about 30% of the affected individuals develop kidney failure and may require kidney transplant in future.
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