Prune Belly Syndrome (PBS) is a rare congenital malformation characterized by the partial or complete absence of abdominal muscles. PBS is also known as Abdominal Wall Aplasia Syndrome, Eagle-Barrett Syndrome or Obrinsky-Froehlich Syndrome. The latter two are named after the physicians Franz Fröhlich, William Obrinsky, JF Eagle and George S. Barrett, who described corresponding cases of this malformation.
What is Prune Belly Syndrome?
The Prune-Belly-Syndrome is derived from the English and consists of the word “prune” (in German “backpflaume” or “prunes”) and “belly” (in German “belly”). It describes the appearance of the newborn’s abdomen. Due to the partial or complete absence of abdominal muscles, parts of the intestine can be seen, which makes the abdomen look like a prune. PBS is a very rare malformation. See whicheverhealth for Herd Encephalitis Meanings.
In the literature, about one newborn in 30,000 to 40,000 live births is reported to have PBS. Girls are less likely to be affected. About 95 percent of babies who suffer from prune belly syndrome are boys. In 1839, the doctor Franz Fröhlich described the first case of a newborn with missing abdominal muscles. However, he did not mention other malformations that are typical of PBS.
It was not until 1895 that cryptorchidism, a defect in the testicles, was detected in an affected person. Thereafter, prune belly syndrome was studied more closely and a number of other publications followed, including those by JF 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 already described lack of abdominal muscles and the testicle defect, PBS can also be associated with malformations of the urinary tract, which is why it is also known under the name Triad syndrome (three malformations).
The exact cause of Prune Belly Syndrome is not exactly known to this day. Several theories are discussed. It was possible to detect a hereditary frameshift mutation (shifting of the reading frame from genes to DNA) in the gene CHRM3 in a blood-related Turkish family. However, a chromosomal aberration as the cause of prune belly syndrome has not yet been proven.
Symptoms, Ailments & Signs
Prune Belly Syndrome is a rare congenital disorder that, as described above, more commonly affects male newborns. Typical of PBS is the abdomen, which allows parts of the intestine to show through due to the partial or complete absence of abdominal muscles. This gives the belly the appearance of a prune and led to the naming.
Cryptorchidism (the absence of one or both testicles) may also be present. Malformations of the urinary tract, such as a dilatation (expansion) of the ureters (ureters) can also be a typical symptom. In addition, however, other malformations, such as in the skeletal system (clubfoot, hip dislocation, joint stiffness or multi-fingeredness), can also occur. Cardiac defects (heart malformations) can also be related to PBS.
A ventricular septal defect is one such symptom. This is a hole in the septum of the heart. Developmental disorders of the intestines (malrotation, or insufficient rotation of the intestines) or the lungs (lung hypoplasia, insufficient lung maturation) are also known in PBS. This leads to respiratory distress syndrome in the newborn.
Diagnosis & course of disease
Ultrasound scans can be used to determine whether the baby is suffering from prune belly syndrome as early as the 20th week of pregnancy. In any case, this diagnosis is tantamount to bad news, the early mortality rate is 20 percent. Since you cannot treat PBS yourself, you can only treat the accompanying symptoms. In most cases, the kidney defects are the most serious symptom of PBS.
First, laboratory tests are carried out. For example, kidney function must be checked regularly. This can also be done by ultrasound or renal scintigraphy. Maintaining kidney function has top priority. The urinary tract defects can be corrected surgically. In less severe cases, antibiotic prophylaxis and bladder emptying training can be used.
Depending on the severity of the malformation, an abdominoplasty may improve micturition (bladder emptying). Surgery is also indicated for a ventricular septal defect. In less severe cases, the malformations of the skeletal system can be supported with physiotherapy. As a rule, however, numerous operations have to be carried out, for example in the case of clubfoot or multi-fingeredness. Surgical treatment is also essential for cryptorchidism.
Those affected by prune belly syndrome usually suffer from various malformations that can occur in different regions of the body. As a rule, however, the abdomen is always affected by the malformations, so that the muscles are completely missing. This means that the intestines can also be seen through the abdomen. The urinary tract is also deformed, causing problems when urinating.
Malformations can also occur in the feet or hands, so that those affected suffer from restricted mobility or other difficulties in everyday life. The unusual appearance can also lead to bullying or teasing in patients. In newborns, the prune belly syndrome often causes shortness of breath, so that in the worst case they can die without treatment.
Furthermore, the prune belly syndrome usually leads to renal insufficiency, so that those affected are dependent on a transplant or dialysis. Furthermore, the affected person is dependent on various therapies throughout his life. Prune belly syndrome may also reduce the patient’s life expectancy.
When should you go to the doctor?
Prune belly syndrome should always be treated by a doctor, but there is no cure. The affected person is therefore dependent on lifelong treatment and therapy. A doctor must be consulted if the affected person is missing muscles in the intestine or if the navel is deformed. There can also be various malformations on the body that can indicate prune belly syndrome.
Heart problems can also occur, which can be a symptom of Prune Belly Syndrome. In some cases, those affected also suffer from breathing difficulties or even a pulmonary embolism due to the syndrome, which can be fatal. Therefore, at the first sign of prune belly syndrome, a doctor should be consulted to treat the symptoms.
The first diagnosis can usually be made by a pediatrician or general practitioner. However, further treatment depends heavily on the type and severity of the malformations and other symptoms and is usually carried out by a specialist.
Treatment & Therapy
Prune Belly Syndrome is a serious condition, which of course can also lead to serious complications. About 30 percent of those affected develop end-stage renal failure, which means that dialysis or transplantation becomes necessary. Urosepsis can also be another complication.
Bacteria enter the bloodstream via the urinary tract and can cause poisoning. Depending on the severity of the pathologies and the manifestation, the other organs can also be severely impaired in their function.
Those affected by Prune Belly Syndrome are critically ill and the parents of these children must adjust to the fact that doctors, examinations, surgeries and hospitals will be a part of their lives. Numerous operations will be necessary to make life even a little easier. Unfortunately, a completely carefree childhood life will only be possible in the rarest of cases.
Since it has not yet been clearly clarified what causes the Prune Belly Syndrome, it is unfortunately not possible to take appropriate precautions to prevent PBS. A small consolation may be that the prune belly syndrome is very rare and therefore the probability of developing it is rather low.
Successful treatment of prune belly syndrome should always be followed by comprehensive follow-up treatment in order to avoid secondary diseases. The organs affected by the prune belly syndrome should be regularly examined for abnormalities using imaging techniques. In addition, regular checks of the organ function values in the blood should be carried out in order to identify functional restrictions of the organs as a late consequence of the prune belly syndrome in good time.
If infertility is a consequence of the Prune Belly Syndrome, it must also be treated. It may be necessary to artificially supply sex hormones in order to ensure normal development and normal bodily functions. In addition, infertility, as well as disabilities resulting from the prune belly syndrome, can lead to mental illnesses over the course of life.
If this occurs, psychotherapy is required. In such a case, drug therapy with antidepressants may also be indicated. Since the probability of heart problems in people who were born with prune belly syndrome is increased throughout their lives, regular cardiological check-ups should also be carried out.
In addition, patients urgently need to give up smoking for life, as this increases the likelihood of heart disease. Overall, care should be taken to lead a lifestyle that is easy on the heart. This consists of a healthy, balanced diet, avoiding alcohol as far as possible, regular physical activity and avoiding becoming overweight.
You can do that yourself
Patients suffering from prune belly syndrome will have to undergo several surgeries depending on the severity of the deformities. In addition, they are dependent on a wide variety of therapies for life 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 everyone involved, especially since those affected may also be disfigured by deformities of the extremities and are teased or even bullied.
There are currently no self-help groups that Prune Belly sufferers or their parents can join, as the disease is too rare for that. But it is possible that the treating clinics or free counseling centers at your place of residence offer group therapy for the chronically ill. 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 ureter area, care should be taken to ensure adequate hygiene. In addition to daily cleaning and changing clothes, this also includes a healthy diet that supports the body’s immune system. The prune belly patient’s digestion may need assistance. The doctors treating you will be happy to give you the appropriate recommendations. In addition, those affected should drink a lot: this flushes possible pathogens out of the kidneys and bladder and also helps to keep the stool soft.