Prune Belly Syndrome


What is Prune Belly Syndrome?

It is also known as Triad syndrome, Obrinsky syndrome, a congenital absence of the abdominal muscles, abdominal muscle deficiency syndrome, urethral obstruction malformation sequence or Eagle Barrett syndrome. It is a deficiency or absence of the musculature found in the abdominal wall, dilated uropathy and bilateral cryptorchidism which involves the bladder, ureters and urethra, (more on this later). It occurs during the developmental stage of the fetus when it was still inside the mother’s uterus. It is a rare kind of disease that happens in a ratio of 1 out of 29,000 or 1 out of 40,000 newborns. It occurs more frequently in male children.

History

Frohlich was the first one to describe this syndrome during the year 1839. While Osler, during the year 1901, was the one who named this syndrome as Prune –Belly syndrome. The ones who fully described this syndrome were Barret, Obrinsky and Eagle in 1949. All were American urologists who piece by piece brought this syndrome to light.

Symptoms, Signs of Prune Belly Syndrome

Babies diagnosed with Prune Belly syndrome have or manifest the following signs, symptoms and characteristics:

  1. Lungs are underdeveloped
  2. Anomalies or defects of the cardiac system
  3. Wrinkled prune like abdomen
  4. Cryptorchism
  5. Renal collecting structures are dilated
  6. Bladder is dilated
  7. Anomalies in the gastrointestinal system
  8. Talipes or club foot
  9. Abnormal limbs
  10. Constipation
  11. Appearance of a Little Buddha
  12. Delayed walking and sitting
  13. Frequent urinary tract problem
  14. Undescended testicles
  15. Azoospermia

Causes & Risk Factors of PBS

The exact cause of this syndrome has yet to be identified. However, there are theories that explain the pathological reason behind the syndrome. The following are the possible theories linked to this syndrome:


Obstruction and the malformation of the Urethra

This idea suggests that when there is pressure of the baby’s abdominal wall, the muscles atrophy because of the obstruction of the urethra, which yields to distention of the ureters and bladder. It will then result in interference of the baby’s testes descending, which is the main reason why bilateral cryptorchidism occurs.

Abnormal development of the mesoderm

When there is an abnormality in the development of the mesoderm, it will result in defective development of the urinary system, specifically the urinary tract, as well as the severe laxity of the baby’s abdomen.

Genetic defect

A theory suggests that there is an association with Trisomy 21 and 18 and that they possess cardiac defects like ventricular septal defect and tetraloogy of fallot. Also, there is a predominance of case reports of the syndrome occurring in more males than females. It is linked to an autosomal recessive inheritance with a sex-limited expression.

Diagnosis

Diagnosing a baby with Prune-Belly Syndrome is done by doing or undergoing the following examinations:

  1. Physical examination
  2. Ultrasound examination
  3. Blood test or examination
  4. X-ray examination
  5. Voiding cystourethrogram or VCUG examination
  6. IVP exam or Intravenous pyelogram examination
  7. Further Imaging Examination such as Tc 99m DMSA scintigraphy

Treatment of Prune Belly Syndrome

In dealing with the treatment of Prune Belly Syndrome, the following may be done:

Pharmalogical Treatment

Antibiotics are prescribed to prevent infection, especially in the urinary system.


Surgical Treatment

Is a mainstay treatment for patients with this syndrome. Some surgical treatments may include laparoscopic technique done on patients with undescended testis, reconstruction of the patient’s abdominal wall to improve cosmesis and function of the respiratory system, percutaneous nephrostomy placement, to correct the ureteropelvic junction obstruction, standard pyeloplasty, or perhaps Blocksom vesicostomy. Other surgical treatment procedures that may be necessary will be based on the assessment of the physician.

Prognosis & Life Expectancy

This kind of syndrome is a life threatening and needs to be treated appropriately. The prognosis varies from one person to another. However, reports say that the average life expectancy of patients with this kind of syndrome is not long after birth. It can range from either being stillborn or premature death within their first week, because of kidney or lung problems at birth. In general, the prognosis will greatly depend on the functioning of the patient’s renal system. Some patients die right at birth, while there are some who survive. Those who survive will continue to encounter more problems for as long as they live. The main reason for those who survive is because the fertility interventions given were modern and their bodies adapted to the kind of interventions given early on. In general, there is a poor prognosis of patients who are diagnosed with Prune Belly syndrome.

Complications

The common complications that are associated with Prune-Belly Syndrome are as follows:

  1. Deformities of the bone structures such as funnel chest, clubbing of foot, dislocation of the hips, missing digit or limb
  2. Urinary tract disease which may lead to kidney transplant or dialysis
  3. Constipation
  4. Undescending of the testicles, leading to cancer or infertility
  5. Lung is underdeveloped or medically termed as pulmonary Hypoplasia
  6. Poor coughing mechanism which leads to a possibility of pneumonia
  7. Gastrointestinal tract abnormal fixation

Prevention

Since it is a fetal developmental syndrome, the prevention is targeted in a fetal anomalies screening, something which is routinely done during pregnancies. There is a possibility of terminating the pregnancy if given the choice or perhaps a possibility of an intrauterine surgical procedure in order to prevent the further development of prune-belly syndrome. This kind of surgical procedure, although rarely done, according to studies conducted, is considered promising. Surgical procedure is recommended for the earliest phase of the syndrome. It seems to be the only preventive way in extending the life of the patient suffering the disease.

Pictures

prune belly syndrome image


prune belly syndrome photo


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