The clinical picture in children with PBS varies and can include a wide spectrum of complications [7]. Common features include urinary obstruction, vesicoureteral reflux, urethral malformations, and other urogenital abnormalities [5] [8]. As a result, children with PBS may be susceptible to urinary infections.

Additionally, there are consequences that stem from the weak abdominal musculature. For example, these patients have difficulty with increased lung secretions due to their poor cough mechanism. Additionally, they develop constipation since they struggle with performing the Valsalva maneuver.

Physical exam

When inspecting the abdomen, there are remarkable findings. A prominent feature of the abdomen is its wrinkled image and hence its resemblance to a prune since there is an absence of abdominal muscle. It also appears great in size and is lax. Furthermore, the intestinal loops are transparent through the thin wall. Patients may have transverse skin folds and a midline crease the spans the navel to the pubic region. The navel can consist of a vertical slit.

A majority of individuals with PBS will have a horizontal depression under the lower border of the chest, a finding known as Harrison groove. The overall chest appears deformed in many patients.

• Ascites

  Prenatal ultrasound scanning of a 20-year-old woman at 17 weeks of gestation revealed findings suggestive of bladder outlet obstruction, including bladder distension, dilated bilateral ureters, urinary ascites, and oligohydramnios. [ncbi.nlm.nih.gov]

  Transient fetal ascites may be an important feature of the prunebelly syndrome. prune belly urethral obstruction prostatic hypoplasia Received March 21, 1983. Accepted June 10, 1983. [pediatrics.aappublications.org]

• Recurrent Urinary Tract Infection

  Those with less severe renal disease may survive infancy, but may have recurrent urinary tract infection or progressive renal insufficiency. Some mild cases may have little or no loss of renal function and therefore a better prognosis. [radiopaedia.org]

  This is a surgical procedure employed to patients with recurrent urinary tract infections who are also suspected to have kidney affectation. [syndromespedia.com]

  Urinary tract reconstruction was indicated whenever pyelo-ureteral dilatation with evidence of significant stasis and/or vesicoureteral reflux was associated with recurrent urinary tract infections (UTI). [ncbi.nlm.nih.gov]

  Along with the three signs/symptoms of an undeveloped wrinkly abdominal wall, urinary tract problems and undescended testicles, older children with prune belly syndrome may have recurrent urinary tract infection. [nicklauschildrens.org]

• Recurrent Infection

  Occasionally, PBS can be seen in older children or adults with renal failure, recurrent infections, or hypertension. [appliedradiology.com]

  A child with recurrent infections and undescended testes. Nephrol Dial Transplant. 1995;10:711-3. 13. Ehrlich RM, Lesavoy MA, Fine RN. Total abdominal wall reconstruction. JUral. 1986;136:282-5. 14. Furness PD, Cheng EY, Franco I, Firlit CF. [paediatricaindonesiana.org]

  Those with recurrent infections warrant surgical repair. Cryptorchidism is managed by a pediatric urologist and can be repaired through an orchidopexy. [symptoma.com]

  Infants who manage to survive may have recurrent infection of the urinary tract. A poor outcome can be predicted by investigating serum creatinine, if an increase is initially noted in its level. Renal failures can be the outcome in these cases. [medicalsubstance.com]

  In the context of rising creatinine, recurrent infection, or obstruction, surgical intervention becomes necessary. Initial management should be with cutaneous vesicostomy ( Figure 3 ). [clinicaladvisor.com]

• Developmental Delay

  Developmental delays and growth retardation have also been reported. The incidence of prune belly syndrome is approximately 1:40,000 live births. Over 95% of patients are men. [ncbi.nlm.nih.gov]

  Growth retardation and developmental delay with end-stage renal failure have also been reported. [urologyweb.com]

• Cough

  The one exception is that as infants these children are very susceptible to pulmonary infections because of their inability to cough. [journals.lww.com]

  The abdominal musculature hypoplasia predisposes to respiratory problems, respiratory infections secondary to impaired cough mechanism, and cause chronic constipation secondary to ineffective valsalva ability. [ncbi.nlm.nih.gov]

  —A white boy 5½ months of age entered the pediatric service of the Mount Sinai Hospital on April 27, 1946 because of paroxysmal cough and wheezing respirations of four days' duration. [doi.org]

  […] the hips, missing digit or limb Urinary tract disease which may lead to kidney transplant or dialysis Constipation Undescending of the testicles, leading to cancer or infertility Lung is underdeveloped or medically termed as pulmonary Hypoplasia Poor coughing [healthsurgical.com]

• Abdominal Distension

  This case provides further clues to the likely etiology of PBS: transient stretching and attenuation of the fetal abdominal wall secondary to gross fetal abdominal distension - from any cause. [ncbi.nlm.nih.gov]

  This observation supports the theory that the abdominal muscle hypoplasia is a nonspecific lesion, resulting from fetal abdominal distension of various causes. [pediatrics.aappublications.org]

• Regurgitation

  Vesicoureteral reflux means a regurgitation of urine from the bladder back up to the kidneys. The bladder likewise is usually stretched and dilated and may not empty well. [gaurology.com]

• Hip Dislocation

  dislocation, musculoskeletal and cardiac defects Treatment Corsets, excision of redundant tissue Prognosis Oligohydramnios may arise in utero, causing fetal pulmonary hypoplasia, 20% are stillborn, 50% die in infancy. [medical-dictionary.thefreedictionary.com]

  There may be other physical problems in the infant such as spinal curvature, hip dislocations, clubfoot, respiratory or heart problems, and gastrointestinal problems. [rarediseases.about.com]

  Other features include persistent furrowlike umbilicus, cryptorchism; and other anomalies, including malrotation of the bowel, pigeon breast, hip dislocation, polydactyly, and heart defects. The male/female rate is 2: 2. The aetiology is unknown. [whonamedit.com]

  Orthopedic related problems occur in approximately 45% of children and include chest wall deformities, scoliosis, hip dislocation, and clubfoot. Pulmonary and respiratory problems occur in approximately 50% and heart defects are present in 10%. [gaurology.com]

  […] patients have associated anomalies: GI anomalies Affect up to 25% of patients (e.g., imperforate anus, malrotation, gastroschisis, omphalocele, bowel atresia, and increased risk of volvulus) Musculoskeletal anomalies talipes equinovarus, congenital hip [unboundmedicine.com]

• Torticollis

  The deformities observed in our patients were developmental dislocation of the hip (DDH), clubfeet, metatarsus adductus, vertical talus, and congenital muscular torticollis. [journals.lww.com]

  […] malformations, deformations and chromosomal abnormalities Q79 ICD-10-CM Diagnosis Code Q79 Congenital malformations of musculoskeletal system, not elsewhere classified 2016 2017 2018 2019 Non-Billable/Non-Specific Code Type 2 Excludes congenital (sternomastoid) torticollis [icd10data.com]

  Common findings include congenital hip dysplasia, scoliosis, club foot, torticollis, and contractures. Prognosis. PBS can be classified into three prognostic groups. [radiologykey.com]

  Pectus excavatum has been noted along with club feet, hip dislocations, torticollis, and metatarsus adductus. What other disease/condition shares some of these symptoms? Prenatal ultrasound findings may suggest posterior urethral valves. [clinicaladvisor.com]

• Joint Dislocation

  dislocations including the hip Others: renal dysplasia, constipation, increased pulmonary secretions, malrotation of the gut, club foot, post-ejaculatory discomfort Reference: Urology 2015;85:211 Diagnosis PBS can be diagnosed via ultrasound in utero [pathologyoutlines.com]

  Musculoskeletal abnormalities include pectus excavatum, scoliosis, and congenital joint dislocations including the hip. [en.wikipedia.org]

• Myopathy

  […] afibrinogenemia 失認 agnosia 遺伝性エナメル質形成不全症 amelogenesis imperfecta 無脳症 anencephaly 無虹彩症 aniridia 無精巣症 Anorchia アンチトロンビンIII欠乏症 antithrombin III deficiency アントレー・ビクスラー症候群 Antley-Bixler syndrome 再生不良性貧血 aplastic anemia 関節拘縮症 arthrogryposis ベスレムミオパチー Bethlem myopathy [lsd-project.jp]

• Wrinkled Abdominal Skin

  Examination showed wrinkled abdominal skin, bilateral undescended testes and an hypoplastic rectus abdominis, below the umbilicus. Further evaluation revealed enlarged bladder, bilateral megaureters and right intra-abdominal testis. [ncbi.nlm.nih.gov]

  The patient had defect abdominal muscles, wrinkled abdominal skin, cryptorchidism, urethral atresia, vesico-subumbilical skin fistula and normal kidney function. [aclr.com.es]

  Definition / general Prune belly syndrome (PBS) is a congenital disorder of the urinary system with renal, ureteral and urethral abnormalities The syndrome is named for the mass of wrinkled abdominal skin often present First described in 1839 by Frölich [pathologyoutlines.com]

• Cryptorchidism

  It consists of three major findings: gross ureteric dilatation anterior abdominal wall underdevelopment (resulting in the "prune belly" appearance) bilateral undescended testes ( cryptorchidism ) in males There is often an association with other respiratory [radiopaedia.org]

  Prune-belly syndrome is a congenital disorder characterized by abdominal wall musculature deficiency, urinary tract anomalies, and bilateral cryptorchidism. [ncbi.nlm.nih.gov]

  In addition to the abdominal muscle deficiency, they tend to have genital and urinary abnormalities including dilation (widening) of the urinary tract and cryptorchidism (failure for the testes to descend into the scrotum). [medicinenet.com]

  Summary: Prune belly syndrome is a relatively uncommon disorder that is characterized by intrauterine urinary obstruction associated with cryptorchidism, oligohydramnios, and orthopaedic deformations. [journals.lww.com]

• Kidney Failure

  Children with kidney failure may benefit from kidney transplantation. Prognosis or outcome of the disease is poor in children with reduced lung or kidney function. Death could occur from lung complications or kidney failure. [medindia.net]

  Kidney transplantation may be envisaged in patients with kidney failure. [panafrican-med-journal.com]

  Even with treatment, some children may develop kidney failure. Kidney failure is described as 85 to 90% of your kidney function being gone, resulting in your kidney not working well enough to keep you alive. [webmd.com]

  This condition can cause a variety of complications, including: Chronic renal (kidney) failure Failure of both testes to descend into the scrotum (bilateral cryptorchidism) Malformations of the urinary tract, including abnormal dilation (widening) of [childrens.com]

• Bladder Distention

  The syndrome, caused by urethral obstruction early in development, is the result of massive bladder distention and urinary ascites, leading to degeneration of the abdominal wall musculature and failure of testicular descent. [ncbi.nlm.nih.gov]

  Enlargement of the bladder is present in almost all cases. Obstruction of the neck of the bladder is the primary problem, resulting in bladder distention and urine retention. [rarediseases.org]

• Oliguria

  In addition, the risk of torsion must be at the forefront of the differential diagnosis in a prune-belly renal transplant patient with acute onset of oliguria. [ncbi.nlm.nih.gov]

  […] distribution, and reproduction in any medium, provided the original work is properly cited. doi: 10.4103/idoj.IDOJ_656_20 Open A 2-day-old full-term male baby, born out of nonconsanguineous marriage, was admitted with presentation of respiratory distress, oliguria [journals.lww.com]

  His urine output only possible with catheter, otherwise oliguria, urinary retention and glob vesicale occurs. Urinary ultrasonography showed enlargement of bladder and mild hydroureteronephrosis in left renal pelvis. [alliedacademies.org]

In the developed world in which women have access to adequate prenatal care, a majority of cases with PBS are detected through obstetric ultrasonography followed by a confirmation at birth [9] [10]. The newborn suspected to have PBS should undergo a thorough evaluation that consists of the antenatal and family history, a physical exam, and key studies.

Laboratory tests

Since renal obstruction is very common in patients with PBS, there are numerous tests that should be obtained such as the serum concentrations of sodium, potassium, chloride, glucose, blood urea nitrogen (BUN), and carbon dioxide, which are collectively known as the SMA-6. Creatinine is also important since it reveals information about the renal function. Furthermore, urinary output and electrolytes are pertinent. Note that findings such as the elevation in creatinine and BUN accompanied by a low urine output are suggestive of obstruction.

Imaging

The medical team should perform the following imaging techniques to ascertain the specific details about the location and number of abnormalities as well as the degree of their involvement.

Ultrasonography of the kidney and bladder should be the initial diagnostic technique in the neonatal period. This can also be performed periodically to track the progress of the patient.

Kidney, ureter, and bladder (KUB) radiography is warranted in neonates. The findings are notable for bowels appearing on the lateral border of the abdominal wall. Additionally, this imaging tool is paramount for surgical planning.

The intravenous pyelogram (IVP) is crucial in the visualization of the genitourinary tract anomalies. Additionally, voiding cystourethrography (VCUG) to evaluate the flow of urine through the tract.

The management of PBS is tailored towards the manifestations and their severity.

Urogenital tract abnormalities can be managed through various surgical procedures. For example, urinary retention can be managed with a vesicostomy, which facilitates the elimination of urine. Some cases will benefit from a cystoplasty.

Children with vesicoureteral reflux require prophylactic antibiotics. Those with recurrent infections warrant surgical repair.

Cryptorchidism is managed by a pediatric urologist and can be repaired through an orchidopexy.

Abdominal muscle can be reconstructed in order to improve the respiratory function and cosmetic appearance.

Prenatal intervention

Obstetric cases with a PBS fetus are managed by perinatology specialists. They frequently employ fetal ultrasonography as a mode to monitor the renal function and the volume of the amniotic fluid. Intervention in the prenatal period is crucial in order to preserve the patient's renal function [11]. Procedures such as vesicoamniotic shunting may be an option [12] to help prevent lung hypoplasia and kidney dysplasia. In fact, this may improve the prognosis in the neonate. In certain cases, the perinatologist may recommend early delivery depending on factors such as the severity of renal impairment and neonatal viability .

Other

Special consults will be required for patients with orthopedic, cardiac, and/or gastrointestinal sequelae.

PBS has a mortality rate of 20%. Stillbirths and neonatal deaths are common in this condition. The poor prognosis and fatal outcomes are attributed to lung hypoplasia, kidney failure, and/or the cumulative effects of the congenital diseases present.

The survivors are affected with cryptorchidism, a defective abdominal wall, and various renal anomalies but may have milder clinical manifestations overall.

The cause of PBS has not been fully established. It has been suggested though that there is a genetic role in the development of this condition. There are three hypotheses that may explain the etiology.

Some researchers propose that a defect in the developing bladder causes urine to accumulate in the organ, leading to the distension of the bladder, ureters, and kidneys. Consequently, the other features of the triad, abdominal muscle atrophy, and cryptorchidism, may stem from the obstructive effects of the enlarged bladder. Note that obstruction in the urinary tract may be resolved by the time of birth.

Another theory postulates that the abnormal development of abdominal muscles is the etiology of this disorder.

Finally, the third possibility speculates that the urinary and muscular manifestations arise from a common cause that has yet to be identified. Moreover, the abdominal muscle abnormality may have actually developed from a defective nervous system.

The incidence of PBS is approximately 1 in 30,000 live births [1]. It has a strong gender preference as 96% patients are males [2] [3]. Additionally, there is an association with twinning, in which 4% of patients result from twin pregnancies.

In addition to the clinical triad of PBS, this congenital disorder encompasses a broad range of anatomic defects with various degrees of severity. These manifestations include involvement of the respiratory, cardiovascular, gastrointestinal, skeletal [4]. and central nervous systems.

Genitourinary and pulmonary

Numerous structures may be affected including the kidneys, ureters, and urethra. Findings can include hydronephrosis, hydroureter, and vesicoureteral reflux [5]. The latter may predispose the children to urinary tract infections.

A main complication of PBS is the underdevelopment of the lung.

Musculoskeletal

Musculoskeletal deformities such as hip dysplasia, absent limbs, and clubbed feet are common [5].

Gastrointestinal

Manifestations affecting this system include various malformations such as esophageal atresia, esophageal stenosis, rectal stenosis, and volvulus colon [5].

Other

There is a possible association between PBS and an assortment of disorders such as trisomy 18 and 21 [2] [6]., as well as the tetralogy of Fallot and ventriculoseptal defects.

Prenatal findings

The failure to eliminate urine from the bladder results in oligohydramnios, pulmonary hypoplasia [2]. and Potter's facies.

While PBS cannot be prevented since the defects occur during fetal development, early identification through a prenatal ultrasound can lead to appropriate intervention and the possible avoidance of complications such as renal failure and pulmonary hypoplasia. Increasing detection of PBS and other congenital disorders can be achieved by extending the use of ultrasonography to developing regions.

Prune belly syndrome (PBS) is a rare disorder typified by the clinical triad of urinary tract malformations, abdominal muscle deficiency, and bilateral cryptorchidism (in males). Although the etiology is not fully understood, there are several possibilities regarding the development of this congenital condition.

The clinical presentation varies and may include a broad range of sequelae with different levels of severity. In addition to the typical features of PBS, patients may also have pulmonary, cardiac, musculoskeletal, and/or gastrointestinal conditions. With regards to patient demographics, PBS has a predilection for males.

PBS can be identified through prenatal ultrasonography but is confirmed during the neonatal period through a clinical assessment comprised of a physical exam, laboratory tests, and imaging modalities. The latter includes ultrasonography, radiography, and other techniques to evaluate the degree of involvement of the urogenital tract.

The therapeutic approach in these children is dependent on the clinical picture. Patients may require surgical repair of pathologies such as urinary retention, urinary obstruction, cryptorchidism, abdominal muscle defect, etc.

The poor prognosis in fetuses and neonates is associated with serious complications. Therefore, early recognition and prompt intervention may lead to a better prognosis. In patients with milder manifestations, timely treatment and management can improve the outcomes.

What is Prune Belly Syndrome?

Prune belly syndrome (PBS) is a disorder consisting of three birth defects:

• Urinary tract abnormalities
• Absence (partial or complete) of abdominal muscles
• Undescended testes in males

The developing fetus likely has a urinary tract defect that causes the abdomen to collect fluid and become swollen. This fluid eventually disappears by birth but causes the appearance of a prune-like belly.

The majority of all affected individuals are males.

What causes this condition?

The exact cause of PBS is not known.

What are signs and symptoms of PBS?

In addition to the three main features discussed above, there is a wide range of complications that may occur in these patients:

• Pulmonary- underdeveloped lungs
• Skeletal- hip deformities, absence of limbs, clubbed feet
• Gastrointestinal- defects of the esophagus, colon, rectum, etc.
• Cardiac- ventriculoseptal defects, tetralogy of Fallot

The following signs are typical features seen on the newborn exam:

• Wrinkled belly that resembles a prune
• Large and lax abdomen
• Intestinal loops are visible through the skin
• Skin folds that span across the abdomen
• Crease that spans from the navel to the pubic area
• Caving of the chest
• Overall deformed looking chest

How is it diagnosed?

Diagnosis can be made while the baby is still in the womb during a prenatal ultrasound. It is then confirmed after birth when the clinician examines the newborn and performs key studies such as ultrasound, x-ray, and intravenous pyelogram. These imaging techniques can help the medical team determine the extent of defects in the baby's urogenital tract. Also, there are laboratory tests to assess the function of the kidneys.

How is it treated?

It is important to diagnose this disorder early in order to prevent serious medical issues. The treatment depends on what abnormalities the patient has and how severe they are.

Some patients will need surgery to help relieve the bladder or repair the ureters or bladder.

A pediatric urologist will evaluate the patients and likely repair the undescended testes with a procedure called orchiopexy.

The abdominal muscles can be surgically reconstructed.

What is the prognosis?

The prognosis may depend on how soon the condition is diagnosed and treated. Intervention may need to begin while the baby is still in the womb. Additionally, the baby may need to be delivered before the due date (if the baby has reached a viable gestational age).

In unborn babies and newborns with severe complications, stillbirths and newborn deaths are likely to occur.

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