Pediatric Reports 2012; volume 4:e20

The Prune Belly syndrome: affecting almost exclusively males (>95%), and characterized by a triad of clinical features Correspondence: Apostolos P. Labanaris, Prostate urological aspects and including urinary tract anomalies, abdominal Center Northwest, Department of Urology and long-term outcomes wall deficiency and bilateral . Pediatric Urology, St. Antonius Medical Center, of a rare disease Nowadays, not as many children with PBS are Moellenweg 22, 48599 Gronau, Germany. seen in clinical practice as in the past, mainly Tel. +49.2562.915.7114 - Fax: +49.2562.915.2105. E-mail: [email protected] Vahudin Zugor,1 Günter E. Schott,2 due to prenatal ultrasound and subsequent pregnancy termination of affected cases. Apostolos P. Labanaris1 Key words: Prune-Belly syndrome, diagnosis, The protruding hypoplastic abdominal wall therapeutic options, surgical treatment. 1Department of Urology and Pediatric looks like a dried prune, hence the name Urology-Prostate Center Northwest, 1-5 Prune-Belly. However, abortive forms are Received for publication: 30 May 2011. St. Antonius Medical Center, Gronau; often also presented in which hypoplasia of the Revision received: 17 November 2011. 2Deparment of Urology, University of abdominal wall is not particularly severe. Accepted for publication: 18 November 2011. Erlangen Medical Center, Erlangen, Malformations of the urinary tract are due to This work is licensed under a Creative Commons Germany dysplasia of the smooth muscles of the renal Attribution NonCommercial 3.0 License (CC BY- pelvis and of the ureters, as well as of the pro- NC 3.0). static part of the urethra. Depending on type and severity, the syndrome presents with three ©Copyright V. Zugor et al., 2012 Abstract different clinical manifistations: i) the non- Licensee PAGEPress, Italy viable oliguric form with severe dyspla- Pediatric Reports 2012; 4:e20 sia; ii) a serious form consisting of marked doi:10.4081/pr.2012.e20 Prune-Belly syndrome is a disorder charac- renal dysplasia, with mega-ureters, mega-vesi- terized by the following triad of symptoms: cles, and progressive renal failure; and iii) the deficiency of the abdominal muscles, malfor- more favorable form with moderate renal dys- mations of the urinary tract and bilateral cryp- (86.7%) and 2 female (13.3%) patients. plasia and different degrees of enlargement of Survival rate after ten years was 93.7%. At the torchidism. This study included a total of 16 1,3,5 only the ureters and bladder. time of diagnosis, average age was 7.4 years patients. The findings included clinical charac- Prune-Belly syndrome is a complex malfor- teristics, diagnostics, therapy and long-term and median age 9.3 years. The youngest mation disorder with wide variability in sever- patient was 1.2 years old and the oldest 12.9 clinical outcomes. All patients were asked to ity and clinical manifestations. A thorough years old. Mean follow-up time was 17 years. complete a questionnaire and, in some cases, examination, usually as regular follow-upusePrune-Belly syndrome had been clinically con- were given further examination. All patients analyses, should establish the diagnosis and firmed in all patients. All children had been were diagnosed with congenital aplasia of the determine the perinatal management. This diagnosed with congenital aplasia of the abdominal wall and a variety of urogenital mal- diagnosis should be considered when prenatal abdominal wall and a variety of urogenital mal- formations. Cryptorchidism was present in 11 abdominal wall deficiencies have been con- formations. Cryptorchidism was present in 11 patients (68.8%), malformations of the 6,7 firmed. children (68.8%), malformations of the prostate in 3 (18.8%), urethral malformations The purpose of this study is to present our prostate in 3 (18.8%), urethral malformations in 8 (50%) and mega-ureter in 14 patients clinical experience with children proven to have in 8 (50%) and mega-ureter in 14 (87.5%) chil- (87.5%). A mega-bladder was observed in 13 Prune-Belly syndrome, as well as to outline the dren. A mega-bladder was observed in 13 chil- patients (81.3%). Distinctive renal malforma- surgical treatment options that can be used. dren (81.3%). Distinctive renal malformations, tions, such as renal dysplasia, in 3 patients such as renal dysplasia in 3 children (18.8%) (18.8%) and hydronephrosis in 9 patients and hydronephrosis in 9 children (56.3%) (56.3%), respectively. Abdominoplasty was per- (Table 1). Other related malformations, such formed on 4 patients (25%). Urethral surgery Materials and Methods as atrial septum defect (ASD), patent ductus was performed in 10 patients (62.5%). Seven arteriosus (PDA), spina bifida occulta and patients (43.8%) required ureter surgery, most All clinical records of patients with Prune- club-foot were found in a total of 5 children of which involved re-implantation of theNon-commercial ureter Belly syndrome who were treated at the (31.2.%) (Table 1). and, in some cases, additional ureter model- Erlangen Pediatric Urology department These patients did not receive homoge- ing. Renal surgery was performed on 5 between 1970 and 2006 were again analyzed neous treatment and they were treated over patients. Four patients with non-functioning retrospectively. Questionnaires were sent out different time periods. Our methodology was kidneys with hydronephrosis underwent a to all patients, some of whom (7 children) often individually targeted, geared towards nephrectomy and one patient pyeloplasty. We underwent further examination. Statistical treating the clinical symptoms and congenital demonstrate that successful treatment is pos- analysis was carried out with the SPSS pro- urogenital malformations according to severity sible even in cases of serious and complex gram. A total of 16 patients were included in and form. Abdominoplasty was performed in 4 malformations, such as those of the Prune- the study. Findings cover clinical characteris- children (25%). Urethral surgery was per- Belly syndrome. Treatment must be tailored to tics, diagnostics, therapy, and long-term clini- formed in 10 children (62.5%). We first carried the individual patient. The severity of the renal cal outcome. out a variety of endoscopic procedures in order dysplasia is the main prognostic factor. to ensure a regular urine flow (in 50% of cases). Open urethral surgeries, such as ure- thralplasty and correction of epispadia, were Results performed in 2 children (12.6%). Bladder sur- Introduction gery was necessary in 10 children (62.5%); The sample population consisted of 16 bladder reduction surgery was the most com- Prune-Belly syndrome (PBS) is a rare mal- patients in whom Prune-Belly syndrome had mon procedure performed (31.3%) (Table 2). formation disorder (1 in 40,000 live births), been clinically verified. There were 14 male Seven children (43.8%) had to undergo ureter

[page 78] [Pediatric Reports 2012; 4:e20] Article surgery, mostly including ureter re-implanta- Table 1. The clinicopathological character- Table 2. Urological surgical procedures. tions and in some cases additionally ureter istics. N. % modeling. Five of the 11 children with cryp- N. % torchidism had to undergo orchidopexy (31.3% Urethral surgery 10 62.5 of patients) which in every case was via an Sex Urethroplasty 1 6.3 inguinal incision. One patient developed a Male 14 87.5 Internal urethrotomy 4 25.0 seminoma at an adult age, and an inguinal Female 2 12.5 Atrioventricular valve fulguration 2 12.6 orchiectomy was performed, followed by post- Age when diagnosed Epispadias correction 1 6.3 surgical radiotherapy. We performed renal sur- Minimum 1.2 Meatotomy 1 6.3 gery in 5 children. Four children who had non- Median 9.3 Shincterotomy 1 6.3 functioning kidneys with hydronephrosis Maximum 12.9 Ureter surgery 7 43.8 underwent a nephrectomy and one patient Other congenital malformations Cutaneous ureterostomy 1 6.3 pyeloplasty. Four children who had developed Yes 5 31.2 Ureterocystoneostomy 5 31.3 terminal renal insufficiency which required ASD, atrial septum defect 1 6.3 Sober 1 6.3 None 9 56.3 dyalisis treatment underwent a kidney trans- Funnel chest (pectus excavatum) 1 6.3 plant. These children now have stable kidney Spina bifida occulta 1 6.3 Testicular surgery 6 37.5 Club-foot 1 6.3 function. Two children (12.6%). developed Orchidopexy 5 31.3 Funnel chest 1 6.3 Inguinal orchiectomy 1 6.3 postoperative complications (urethral fistula No 11 68.8 None 10 62.5 and extravasation). A suprapubic catheter was Treatment inserted temporarily in 14 children. One child Bladder surgery 10 62.5 Surgical 16 100 Hemicystectomy 5 31.3 died from and an Conserative 00Hemicystectomy YV-plastic 1 6.3 advanced stage of renal insufficiency. Congenital urological Young-dees bladder neck 1 6.3 malformations Reconstruction Abdominal wall aplasia 15 93.8 TUR bladder neck resection 2 12.6 Cryptorchidism 11 68.8 onlyCystostomy 1 6.3 Discussion Malformations of the prostate 3 18.8 Renal surgery 5 31.3 Urethral malformations 8 50 Nephrectomy 4 25 Although many theories have been put forth Mega-bladder 13 81.3 Pyeloplasty 1 6.3 regarding the embryonic origin of Prune-Belly Mega-ureter 14 87.5 None 11 68.8 syndrome, it has not been possible to deter- Renal dysplasia 3use 18.8 Suprapubic catheter 14 87.4 Hydronephrosis 9 56.3 mine the original factors causing this complex Kidney transplant 4 25 anomaly. Etiologically, it is a mesenchymal Surgical procedures developmental arrest during the 6th to 10th Urethral surgery 10 62.5 week of gestation.3 The morbidity rate is Bladder surgery 10 62.5 approximately 1:40,000 births.5-16 Ninety-five Testicular surgery 6 37.5 Renal surgery 5 31.2 percent of cases affect male children and 5% Ureter surgery 7 43.8 affect girls who usually do not exhibit the char- Abdominoplasty 4 25 acteristic urogenital dysplasia nor, of course, cryptorchidism. Conversely, there are cases of Post-surgical complications Yes 2 12.5 boys who show the urogenital dysplasia typical No 14 87.5 of the Prune-Belly syndrome but have normo- topic testes and no abdominal wall weakness at all; a variation of the disorder known as the pseudo Prune-Belly syndrome which is largely identical to the megacystis- syn- or stenosis of the rectum or of the esophagus, pelvis calyx system is usually moderately dilat- drome.3,8 as well as a variety of malrotations, result from ed. Renal insufficiency in these patients is pri- Prenatal diagnosis plays a keyNon-commercial role in early an insufficient fixation of the mesentery to the marily characterized by renal parenchymal detection of Prune-Belly syndrome. In addi- back of the abdominal wall.1,2 Children with dysplasia prompted by an early embryonal tion, regular ultrasound examinations are PBS can suffer from serious respiratory prob- obstruction. Alternatively, renal insufficiency extremely important in providing an early sign lems which can be caused by pulmonary can also develop as a result of a bladder dys- of missing kidney function or of dysplasia. hypoplasia due to an oligohydramnios or to function with hyperperistalsis or the Prune- Examination and palpation of the abdominal related spinal and thorax deformities.9 Since Belly syndrome’s characteristic dysergenic musculature, as well as nuclear medicine tests the incidence of orthopedic malformations lies contraction of the megacyst. Renal dysplasia to establish physiological function such as an between 30-40%, the skeletal system is, after can only be diagnosed through histological excretory urogram or magnetic resonance the urinary tract, the second system in the body testing. A number of kidneys examined post- imaging urography and micturating cys- most frequently affected by this disorder.1 Hip mortem showed dysplastic changes in the tourethrogram, are key components of post- dysplasia, missing extremities or club-feet are majority of the patients.1,11,12 Since these natal diagnosis. frequent problems with the limbs. Atrial and changes were often present only in segments Major features of this syndrome are the ventricular septum defects are found in 10% of of the kidney, biopsies of these organs could related malformations of a gastrointestinal, the cases, and Fallot tetralogies can also be lead to incorrect interpretation. cardiac, pulmonary and orthopedic nature. observed.1,10 The wrinkled, drooping abdominal wall is a Anomalies of the gastrointestinal tract are A mixed nephropathy, partly obstructive and sign of a different type of hypoplasia and dys- observed in 20-30% of patients. Most abnormal- partly dysplastic, affects the kidney, yet often plasia of the abdominal wall muscles, first and ities such as volvulus colon, esophageal atresia without any obstruction at all. The kidney foremost of a paraumbilical nature in the lower

[Pediatric Reports 2012; 4:e20] [page 79] Article half of the . The defect is attributed to progress. These procedures can be considered If the disorder follows a progressive course, an the first lumbar myotome. The coarse folds of in cases of, for example, vesico-urethral reflux aggressive surgical approach has proven to be the abdomen look like a dried prune.3 Another and/or obstructive uropathy, in which there is clearly more effective than a nihilistic treat- distinct feature of this syndrome is cryp- the risk of further deterioration in renal func- ment path or a wait-and-see strategy. torchidism. The reason for the undescended tion. Some authors advocate performing a ure- Treatment, however, has to be tailored individ- testes remains unknown. Mechanical factors, throcystoscopy, if necessary, with urethrotomy ually and specific indications for surgery such as the greatly overextended bladder or the in order to rule out an infravesical obstruction. assessed accordingly. faulty development of the inguinal canal, Abdominoplasty no longer plays the decisive In the light of the comparatively sparse liter- allegedly account for this.11,13,14 The crytorchid role in surgical therapy that was presumed in ature available and of the great diversity of phe- testes have a favorable histology. Tissue in the former times. Physical therapy can indeed notypes these malformations have, it is not testes of PBS patients is no different from that achieve equally good or bad results.17-18 If nec- possible to determine with certainty whether found in intra-abdominal testes. The stem cell essary, tapering with reimplantation of the two the surgical procedures adopted do indeed have count in the first year of age, in particular, is dilated ureters should be performed, and both a decisive impact on the long-term outcome of comparable to that of normal testes.11,15 cryptorchid testicles mobilized during the these children in terms of renal prognosis or, In most cases, bladder capacity is two to four orchidopexy that takes place during abdominal for that matter, quoad vitam prognosis. times larger, the detrusor muscle is thickened wall surgery.12-19 Woodard, who has made a sig- and, in cases of an objective infravesical nificant contribution in this field, advocates obstruction, not trabeculated. The trigonum is infravesical desobstruction wherever one may enlarged in most cases, and has lateral and occur, excision of the surplus parts of both References often refluxing ostia and paraostial diverticula. mega-ureters, modeling, antirefluxing neosto- The bladder neck is open. In other cases, the my in the bladder, and, likewise, excision of the 1. Duckett JW, Snow BW. Prune-Belly- deficient urodynamics are shown by the sheer diverticular upper half of the bladder. Syndrom. In: R Hohenfellner, JW Thüroff, presence of a high volume of residual urine. Orchidopexy completes this extensive major H Schulte-Wissermann (eds.) is found in 75% of ca- surgery. However, although this treatment, Kinderurologie in Klinik und Praxis, ses.1,3,8 known as total reconstruction, has been broad- Stuttgart, 1986, pp 348-65. The ureters are typically elongated, and the ly accepted, it is a very aggressive procedure 2. Shahonly D, Sharma S, Faridi MM, Mishra K. related dilatation is mostly more pronounced and requires a great deal of surgical experience VACTERL association with Prune-Belly than when there are only obstructive mega- in pediatric urology. In fact, this approach has syndrome. Indian Pediatr 2004;41:845-7. ureters. Obstructive ureteral kinks exhibiting now been abandoned, even by Woodard him- 3. Schott G, Herrlinger A, Willital G. The additional stenoses and consecutive dilatation self, due to the high morbidity and mortalityuse prune-belly syndrome. Urologe A 1982;21: are often found. Peristalsis is underdeveloped rate in infants undergoing total reconstruction. 322-6. and often inefficient. Histological analyses fre- Little is known about which children with 4. Van Ahlen H, Brühl P. Current views of quently confirm the existence of structural dis- PBS can benefit from extensive reconstructive prune belly syndrome Urologe A 1988;27: turbances in the entire abdominal wall.3 The procedures. Some authors advocate a purely 207-13. alterations are typically more marked in the conservative approach, given that the morphol- 5. Harley LM, Chen Y, Rattner WH. Prune distal section of the ureter than in the proxi- ogy and function of the urinary tract, as well as belly syndrome. J Urol 1972;108:174-6. mal part. the abdominal wall malformations, may 6. Greskovich FJ 3rd, Nyberg LM Jr. The Treatment of Prune-Belly syndrome is a sub- improve with age. Many pediatric urologists prune belly syndrome: a review of its etiol- ject of controversy. In earlier times, due to the would agree that PBS represents a low pres- ogy, defects, treatment and prognosis. J lack of experience with this very complex dis- sure, dialated, non-obstructed system that in Urol 1988;140:707-12. order, a conservative strategy advocating sur- many cases does not require surgery. This 7. Woods AG, Brandon DH. Prune belly syn- gery followed by a wait-and-see approach was point needs to be stressed; we have moved drome. A focused physical assessment. the recommended line of action. The main goal from aggressive surgery to medical manage- Adv Neonatal Care 2007;7:132-43 of any treatment is, of course, preserving kid- ment for many of these children. Of course, 8. Sigel A, Schrott KM. Congenital megau- ney function.3,11,15,16 Treatment options depend some children will need surgery for obstruc- reter and its implications Urologe A on the clinical picture. They can range from tion, but this is becoming less common than in 1982;21:312-7 maintaining a wait-and-see approachNon-commercial while the past. Many studies confirm that treatment 9. Crompton CH, MacLusky IB, Geary DF. conducting regular urine checkups, to per- for PBS should be tailored individually. A major Respiratory function in the prune-belly forming primary major corrective surgery and study in Brazil has confirmed that various uro- syndrome. Arch Dis Child 1993;68:505-6. procedures for temporary urine diversion, logically invasive procedures performed in 32 10. Adebonojo FO. Dysplasia of the anterior such as a cutaneous ureteroileostomy with children with PBS achieved good long-term abdominal musculature with multiple subsequent surgical reconstruction. However, results.20-21 Renal transplants also secure good congenital anomalies. Prune belly or triad as is well-known, reconstruction in the case of results in terms of function, as reported in a syndrome. J Natl Med Assoc 1991;265: newborns makes no sense or is actually con- Japanese study of children with PBS.22 1179. traindicated since at this age the bladder is not 11. Kamel MH, Thomas AA, Al-Mufarrej FM, et yet fully developed, thus increasing the risk of al. Deceased-donor kidney transplantation obstruction after the uretero-cystoneostomy in prune belly syndrome. Urology 2007;69: has been performed. Greater stabilization of Conclusions 666-9. the upper urinary tract can be achieved in 12. Patil KK, Duffy PG, Woodhouse CR, many cases by performing procedures for more Our experience has shown that, with a Ransley PG. Long-term outcome of Fowler- prolonged drainage at the bladder level, prefer- sound diagnosis and depending on the clinical Stephens orchiopexy in boys with prune- ably a cystostomy.5,16 The timing of surgery progress, adequate, effective treatment can be belly syndrome. J Urol 2004;171:1666-9. must be assessed on an individual basis and offered even in cases of serious and complex 13. Docimo SG, Moore RG, Kavoussi LR. determined as part of the patient’s clinical malformations, such as Prune-Belly syndrome. Laparoscopic orchidopexy in the prune

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belly syndrome: a case report and review 17. Levine E, Taub PJ, Franco I. Laparoscopic- 20. Dénes FT, Arap MA, Giron AM, et al. of the literature. Urology 1995;154:1513-5. assisted abdominal wall reconstruction in Comprehensive surgical treatment of 14. Hutson JM, Beasley SW. Embryological prune-belly syndrome. Ann Plast Surg prune belly syndrome: 17 years' experi- controversies in testicular descent. Semin 2007;58:162-5. ence with 32 patients. Urology 2004;64: Urol 1988;6:68-73 18. Monfort G, Guys JM, Bocciardi A, et al. A 789-93 15. Woodard JR, Parrott TS. Orchiopexy in the novel technique for reconstruction of the 21. Diao B, Diallo Y, Fall PA, et al. Prune Belly prune belly syndrome Br J Urol 1978;50: abdominal wall in the prune belly syn- 348-51. drome. J Urol 1991;146:639-40. syndrome: epidemiologic, clinic and ther- 16. Grapin-Dagorno C, Boubnova J, Ulinski T, 19. Bogart MM, Arnold HE, Greer KE. Prune- apeutic aspects. Prog Urol 2008;18:470-4. et al. (2007) Renal transplantation in chil- belly syndrome in two children and review 22. Fusaro F, Zanon GF, Ferreli AM, et al. dren with lower urinary tract dysfunction of the literature. Pediatr Dermatol 2006; Renal transplantation in prune-belly syn- Bull Acad Natl Med 2007;191:569-81 23:342-5 drome. Transpl Int 2004;17:549-52.

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