Prune-Belly syndrome (PBS), is a rare congenital malformation characterized by either partial or complete absence of abdominal muscles. PBS is also known as abdominal aplasia syndrome, Eagle-Barrett syndrome, or Obrinsky-Fröhlich syndrome. The latter two are named after the physicians Franz Fröhlich, William Obrinsky, J. F. Eagle, and George S. Barrett, who described corresponding cases of this malformation.
What is prune-belly syndrome?
Prune-belly syndrome is derived from the English word “prune” (meaning “prune” or “prune”) and “belly” (meaning “belly”). It describes the appearance of the newborn’s belly. Due to the partial or complete absence of the abdominal muscles, parts of the intestine are visible, making the abdomen look like a prune. PBS is a very rare malformation. The literature reports about one newborn with PBS out of every 30,000 to 40,000 live births. Girls are less likely to be affected. About 95 percent of babies who have Prune-Belly syndrome are boys. In 1839, physician Franz Fröhlich described the first case of a newborn with missing abdominal muscles. However, he did not mention other malformations typical of PBS. It was not until 1895 that cryptorchidism, a malformation of the testicles, was demonstrated in an affected person. Thereafter, Prune-Belly syndrome was studied in more detail and a number of other publications followed, including those of J. F. Eagle and S. Barrett, who described nine such cases. There are now more than 200 documented cases of prune-belly syndrome. In addition to the absence of abdominal muscles and testicular malformation already described, PBS can also be associated with malformations of the urinary tract, which is why it is still known as Triad syndrome (three malformations).
Causes
The exact cause of Prune-Belly syndrome is still not known. Several theories are discussed. It was possible to prove a hereditary frameshift mutation (a shift in the reading frame of genes on DNA) in the gene CHRM3 in a blood-related Turkish family. However, a chromosomal aberration as a cause of Prune-Belly syndrome has not yet been proven.
Symptoms, complaints, and signs
Prune-Belly syndrome is a rare congenital disorder that, as described earlier, more commonly affects male newborns. PBS is typically characterized by an abdomen that allows portions of the intestine to show through due to the partial or complete absence of abdominal muscles. This gives the abdomen the appearance of a prune and led to the name. Furthermore, cryptorchidism (the absence of one or both testicles) may be present. Malformations of the urinary tract, such as dilatation of the ureters, can also be a typical symptom. In addition, however, there may be other malformations, such as those of the skeletal system (clubfoot, hip dislocation, joint stiffness, or multifingers). Cardiac vitiation (malformations of the heart), may also be associated with PBS. A ventricular septal defect is one such symptom. This is a hole in the septum of the heart. Developmental abnormalities of the intestine (malrotation, or even inadequate rotation of the intestine) or lungs (pulmonary hypoplasia, lack of lung maturation) are also known in PBS. This leads to respiratory distress syndrome in the newborns.
Diagnosis and disease course
Ultrasound examinations can be performed as early as 20 weeks of pregnancy to determine whether the baby has Prune-Belly syndrome. In any case, this diagnosis is tantamount to bad news; the early mortality rate is 20 percent. Since PBS itself cannot be treated, only therapy of the accompanying symptoms is possible. In most cases, kidney defects are the most serious symptom in PBS. First, laboratory tests are performed. For example, kidney function must be checked regularly. This is also possible by ultrasound or renal scintigraphy. Preservation of renal function is the first priority. Urinary tract defects can be corrected surgically. In less severe cases, antibiotic prophylaxis can be given as well as bladder emptying training. Depending on the severity of the malformations, abdominoplasty may be able to improve micturition (bladder emptying). Surgery is also indicated for a ventricular septal defect.The deformities of the skeletal system can be supported with physiotherapy in less severe cases. As a rule, however, numerous operations have to be performed, for example in the case of clubfoot or multifingeredness. Surgical treatment is also inevitable in cases of cryptorchidism.
Complications
Due to prune-belly syndrome, affected individuals usually suffer from various malformations that can occur in different regions of the body. However, as a rule, the abdomen is always affected by the malformations, so that muscles are completely absent from it. Thus, the intestine is also visible through the abdomen. Furthermore, the urinary tract is also deformed, causing discomfort when urinating. Similarly, deformities can also occur in the feet or hands, so that those affected suffer from restricted movement or other difficulties in everyday life. Due to the unusual appearance, patients may also be bullied or teased. It is not uncommon for newborns to experience respiratory distress as a result of Prune Belly Syndrome, so that in the worst case scenario they may die without treatment. Furthermore, the Prune-Belly syndrome usually leads to kidney insufficiency, so that the affected person is dependent on a transplant or dialysis. Furthermore, the affected person is dependent on various therapies throughout his or her life. It is also possible that prune-belly syndrome reduces the patient’s life expectancy.
When should you see a doctor?
Prune-Belly syndrome should always be treated by a physician; however, it is not curable. The affected person is therefore dependent on lifelong treatment and therapy. A doctor must be consulted if the affected person has missing muscles in the intestine or if the belly button is deformed. There may also be various malformations on the body that may indicate Prune-Belly syndrome. Also, there may be discomfort in the heart, which can be a symptom of Prune-Belly syndrome. In some cases, those affected also suffer from respiratory problems or even pulmonary embolism due to the syndrome, which can be fatal. Therefore, a doctor should be consulted at the first signs of prune-belly syndrome in order to treat the symptoms. The initial diagnosis can usually be made by a pediatrician or general practitioner. However, further treatment depends largely on the type and severity of the malformations and other symptoms and is usually performed by a specialist.
Treatment and therapy
Prune-belly syndrome is a serious disease that can, of course, lead to serious complications. For example, about 30 percent of those affected develop terminal renal failure, resulting in the need for dialysis or transplantation. Urosepsis can also be a further complication. In this case, bacteria enter the bloodstream via the urinary tract and can cause poisoning. The other organs may also be severely impaired in function, depending on the severity of the pathologies and the manifestation.
Prevention
Those affected by Prune-Belly syndrome are seriously ill, and parents of these children must be prepared for the fact that doctors, examinations, surgeries, and hospitals will be part of their lives. Numerous operations will be necessary to make life even a little easier. However, a completely carefree child’s life will unfortunately only be possible in the rarest of cases. Since it is not yet clear what causes Prune Belly Syndrome, it is unfortunately not possible to take appropriate precautions to prevent PBS. A small consolation may be that Prune-Belly syndrome is very rare and therefore the probability of contracting it is rather low.
Follow-up
Successful treatment of prune-belly syndrome should always be followed by comprehensive aftercare to prevent secondary diseases. The organs that were affected by Prune-Belly syndrome should be regularly examined with imaging techniques for abnormalities. In addition, the organ function values in the blood should be checked regularly in order to detect any functional limitations of the organs resulting from Prune-Belly syndrome in good time. If infertility is a consequence of Prune-Belly syndrome, it must also be treated.If necessary, it may be necessary here to artificially supply sex hormones to ensure normal development and normal bodily functions. In addition, infertility, as well as disabilities resulting from Prune-Belly syndrome, may lead to psychological disorders during the course of life. If these occur, psychotherapy must be provided. In addition, drug therapy with antidepressants may be indicated in such a case. Since the likelihood of heart problems is increased throughout life in persons born with Prune-Belly syndrome, regular cardiological check-ups should also be performed. In addition, patients must urgently refrain from smoking for life, as this further increases the likelihood of heart disease. Overall, attention should be paid to a lifestyle that is easy on the heart. This consists of a healthy, balanced diet, avoiding alcohol as far as possible, exercising regularly and avoiding the development of excess weight.
Here’s what you can do yourself
Patients suffering from prune-belly syndrome will have to undergo several surgeries, depending on the severity of the deformities. In addition, they will be dependent on a wide variety of therapies for the rest of their lives and may also need dialysis. This life situation is a great burden for both the patients and their parents. In order to cope with these circumstances, psychotherapy is helpful for all involved, especially since those affected may also be disfigured by deformities of the extremities and teased or even bullied. Currently, there are no self-help groups that Prune Belly patients or their parents could join, the disease is too rare for that. However, it is possible that the clinics providing treatment or independent counseling centers in the place of residence offer group therapies for chronically ill patients. These offers can be found on the Internet or can be requested from the treating clinic. In order to avoid infections, for example in the ureteral area, care should be taken to ensure adequate hygiene. This includes daily cleaning and changing of linen, as well as a healthy diet that supports the body’s own immune system. It may be necessary to support the digestion of the Prune Belly patient. Here, the attending physicians are happy to give appropriate recommendations. In addition, those affected should drink plenty of fluids: this flushes possible pathogens from the kidneys and urinary bladder and also helps to keep the stool soft.
