Exstrophy Variant Research Articles

Superior Vesical Fissure as an Incomplete Form of Bladder Exstrophy: A Case Report with Clinico-Pathological Correlation and a Comprehensive Literature Review.

Multiple variants of classic bladder exstrophy have been described, all of them infrequent. Superior vesical fissure is a mild variant of this pathology in which genital involvement is scarce or absent. To date, there are only isolated reports of this entity. We report a full-term female patient of Arabian descent with a clinical and radiological diagnosis of superior vesical fissure that was surgically corrected in our center with a favorable evolution. Histological study, supported by immunohistochemical techniques, showed squamous and transitional epithelium and discrete chronic inflammation. Our literature review identified 26 reports of superior vesical fissure (including ours), with high heterogeneity in terms of clinical characterization and associated malformations and with only two histological reports. The clinical evolution of the patients reported in the literature was favorable, with lower morbidity and mortality than in classical forms of bladder exstrophy.

Multi-staged vs Single-staged Pelvic Osteotomy in the Modern Treatment of Cloacal Exstrophy: Bridging the Gap

PurposeStaged pelvic osteotomy has been shown in the past to be an effective tool in the closure of the extreme pubic diastasis of cloacal exstrophy. The authors sought to compare orthopedic complications between non-staged pelvic osteotomies and staged pelvic osteotomies in cloacal exstrophy. MethodsA prospectively maintained exstrophy-epispadias complex database of 1510 patients was reviewed for cloacal exstrophy bladder closure events performed with osteotomy at the authors' institution. Bladder closure failure was defined as any fascial dehiscence, bladder prolapse, or vesicocutaneous fistula within one year of closure. There was a total of 172 cloacal exstrophy and cloacal exstrophy variant patients within the database and only closures at the authors’ institution were included. Results64 closure events fitting the inclusion criteria were identified in 61 unique patients. Staged osteotomy was performed in 42 closure events and non-staged in 22 closures. Complications occurred in 46/64 closure events, with 16 grade III/IV complications. There were no associations between staged osteotomy and overall complication or grade III/IV complications (p = 0.6344 and p = 0.1286, respectively). Of the 46 total complications, 12 were orthopedic complications with 6 complications being grade III/IV. Staged osteotomy closure events experienced 10/42 orthopedic complications while non-staged osteotomy closures experienced 2/22 orthopedic complications, however this did not reach significance (p = 0.1519). Of the 64 closure events, 57 resulted in successful closure with 6 failures and one closure with planned cystectomy. ConclusionThis study confirms, in a larger series, superior outcomes when using staged pelvic osteotomy in cloacal exstrophy bladder closure. Staged osteotomy was shown to be a safe alternative to non-staged osteotomy that can decrease the risk of closure failure in this group. Staged pelvic osteotomy should be considered in all patients undergoing cloacal exstrophy bladder closure. Type of StudyTreatment study. Level of EvidenceLevel III.

Spinal dysraphism in exstrophy: a single-center study of a 39-year prospective database.

The two main objectives of this study were to explore the rate of spinal dysraphism within bladder and cloacal exstrophy and to analyze the relationship between spinal dysraphism surgery, including timing of spinal dysraphism surgery, with urological and neurological outcomes. A prospectively maintained IRB-approved database of pediatric exstrophy patients treated from 1982 to 2021 was retrospectively reviewed for patients with spinal dysraphism. Spinal dysraphism was categorized into the following 7 subtypes: lipoma-based closed defect, myelomeningocele, meningocele, diastematomyelia, myelocystocele, low-lying conus with tethered cord/fatty filum, and sacral bony defect. Other factors assessed included patient demographic characteristics, type of spinal dysraphism procedure, reoperation, complication, presence of other neurological problems (e.g., hydrocephalus, Chiari malformation), neurological status, and urological function. Analysis revealed that 114/1401 patients had coexisting spinal dysraphism. Of these 114, sufficient records including type of dysraphism were available for 54. Spinal dysraphism was most common within cloacal exstrophy (83.3% [45/54 patients]), followed by cloacal exstrophy variants (9.3% [5/54]), classic bladder exstrophy (3.7% [2/54]), and classic bladder exstrophy variants (3.7% [2/54]). Within spinal dysraphism, lipoma-based closed defects (63.0% [34/54]) and low-lying conus with tethered cord/fatty filum (11.1% [6/54]) were most common. Hydrocephalus and Chiari malformation occurred in 24.1% (13/54) and 11.1% (6/54) of patients. All 13 patients with hydrocephalus underwent shunt placement. Among those who underwent neurosurgical intervention, the complication rate for spinal dysraphism was 14.6% (7/48). Motor function data were available for 41 patients and revealed that motor function declined for 2/41 (4.8%) patients and improved for 6/41 (14.6%) after neurosurgery. There was no statistical difference in lower-extremity motor outcome related to timing of neurosurgery and exstrophy closure. The authors have reported the surgical management and outcomes of patients with exstrophy and coexisting spinal dysraphism (n = 54). In 54 patients, spinal dysraphism was most common in the subset of patients with cloacal exstrophy (83.3%). Lipoma-based closed defects (63.0%) and low-lying conus with tethered cord/fatty filum (11.1%) were the most common, and the rates of hydrocephalus and Chiari malformation were 24.1% and 11.1%, respectively. There was no difference in lower-extremity motor outcome related to timing of neurosurgery and exstrophy closure.

V04-09 UNDOUBLED BLADDER IN THE SAGITTAL PLANE WITH ONE EXSTROPHIC BLADDER: A CASE REPORT ON RECONSTRUCTIVE TECHNIQUE

You have accessJournal of UrologyCME1 May 2022V04-09 UNDOUBLED BLADDER IN THE SAGITTAL PLANE WITH ONE EXSTROPHIC BLADDER: A CASE REPORT ON RECONSTRUCTIVE TECHNIQUE Wietse Claeys, Caroline Jamaer, Camille Berquin, Irina Verbakel, Achilles Ploumidis, Erik Van Laecke, Piet Hoebeke, and Anne-Françoise Spinoit Wietse ClaeysWietse Claeys More articles by this author , Caroline JamaerCaroline Jamaer More articles by this author , Camille BerquinCamille Berquin More articles by this author , Irina VerbakelIrina Verbakel More articles by this author , Achilles PloumidisAchilles Ploumidis More articles by this author , Erik Van LaeckeErik Van Laecke More articles by this author , Piet HoebekePiet Hoebeke More articles by this author , and Anne-Françoise SpinoitAnne-Françoise Spinoit More articles by this author View All Author Informationhttps://doi.org/10.1097/JU.0000000000002560.09AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail Abstract INTRODUCTION AND OBJECTIVE: The Exstrophy-Epispadias complex is a spectrum of rare congenital malformations that can involve multiple organ systems. It can range from a simple glandular defect to a complete multisystem malformation with cloacal exstrophy and musculoskeletal diastasis. We report on the case of an adult woman who was born with an exstrophy variant with bladder and urethral duplication in the sagittal plane. The aim of our study was to report our reconstructive approach in this rare case of bladder exstrophy with maximum use of available tissues. METHODS: A 27-year old female patient was referred to our center for the complaint complete incontinence since birth. Upon first clinical examination, we discovered an exstrophic bladder with blind ending ureteral orifices. Further evaluation revealed a urethral meatus caudal to the exstrophic bladder plate. Cystoscopy revealed a second non-exstrophic bladder in the sagittal plane with complete incontinence due to a broad open bladder neck. This bladder contained 2 orthotopic ureters with normal retrograde urethrography. Vaginoscopy revealed a short and small vaginal channel and an arcuate uterus. Plain radiography of the pelvis showed a diastasis of 5 centimeters. CT scanning could not reveal any aberrant anatomy in the upper urinary tract. Genetic testing showed a normal 46XX karyotype. A laparotomy incision is performed and the exstrophic bladder plate is dissected caudally up to the point where a ventral inlay in the non-exstrophic bladder can be performed as augmentation tissue. A Mitchell-type bladder neck reconstruction with fascia sling interposition is performed. Since we do not know if this non-exstrophic bladder will be capable of emptying or if the bladder neck reconstruction will remain patent, we chose for the interposition a continent Mitrofanoff-type vesicostomy. Genital reconstruction with re-anastomosis of the urethral meatus between the inner labia is performed. The patient was thought self-catheterization through the appendiceal channel. At this point the patient can hold around 250 ml in the bladder. She catheterizes 5 times a day and once at night. She is completely dry. RESULTS: We present our reconstructive technique in a step-by-step-video guide. Our main focus was to achieve continence by maximal use of available tissues with the best possible quality of life for the patient. CONCLUSIONS: No surgical technique will be suitable for all these varying anomalies. Therefore, reconstructive surgeons need to tailor their approach based on available tissues and functional goals. Source of Funding: none © 2022 by American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetails Volume 207Issue Supplement 5May 2022Page: e369 Advertisement Copyright & Permissions© 2022 by American Urological Association Education and Research, Inc.MetricsAuthor Information Wietse Claeys More articles by this author Caroline Jamaer More articles by this author Camille Berquin More articles by this author Irina Verbakel More articles by this author Achilles Ploumidis More articles by this author Erik Van Laecke More articles by this author Piet Hoebeke More articles by this author Anne-Françoise Spinoit More articles by this author Expand All Advertisement PDF DownloadLoading ...

Duplicate Bladder Exstrophy With Fistula: A Rare Variant of Exstrophy-Epispadias Complex

Variants of exstrophy are rare anomalies seen in the spectrum of bladder exstrophy-epispadias complex. A seven day old male neonate was admitted in our department with a rare variant of duplicate bladder communicating with exstrophy bladder with fistula. Patient presented with patch of exstrophic bladder just below the low set umbilicus with a normal sized phallus and normally positioned urethral meatus. The baby was managed successfully with surgery and is under regular follow up.

Covered bladder exstrophy with heterotopic hind gut duplication cyst: A case report with review of literature

There are many different variants of classical bladder exstrophy (BE) and covered BE is one of these rare variants which has an association with heterotropic hind gut duplication cyst. We report a case of a 20 months old girl with covered BE, who had a 5 cm cystic mass attached anteriorly to the bladder, which turned out to be a hind gut duplication cyst on histopathology examination. So a possibility of a heterotopic hind gut duplication cyst should be kept in mind if a cystic mass is found anterior to a covered BE.

Variant of Bladder Exstrophy With an Intact Penis: Surgical Options and Approach

Variants of bladder exstrophy are a rare but diverse spectrum of bladder exstrophy-epispadias complex. This case series describes a group of 4 unique exstrophy variant cases who had an intact phallus, but a completely open bladder plate. These patients underwent exstrophy repair and concomitant umbilicoplasty at the Civil Hospital, Ahmedabad as part of the US-India Multi-institutional Bladder Exstrophy Collaboration and were followed at the same institution. We believe that a detailed assessment of bladder neck prior to reconstructive repair and bladder closure would be beneficial in these cases as the extent of bladder neck involvement would affect reconstructive approach.

Inferior vesical fistula: A rare case report of exstrophy variant with literature review

We present a rare case of exstrophy variant - inferior vesical fistula. A two-year-old boy with normal continence presented with a suprapubic pit and mucosal plate on the penile dorsum. Examination and cystoscopy revealed vesical fistula. The fistula was closed and the penis was reconstructed. Recognition of the exstrophy variant is important because the treatment and prognosis are very different.

Probability of Bladder Augmentation, Diversion and Clean Intermittent Catheterization in Classic Bladder Exstrophy: A 36-Year, Multi-Institutional, Retrospective Cohort Study

We assessed the probability of bladder augmentation/diversion and clean intermittent catheterization in classic bladder exstrophy in a multi-institutional cohort. We included children born from 1980 to 2016 with bladder exstrophy and treated across 5 centers (exclusion criteria less than 1 year followup after birth, isolated epispadias, bladder exstrophy variants etc). Outcomes were probability of bladder augmentation/diversion after bladder closure and proportion of patients performing clean intermittent catheterization at last followup. Survival analysis was used. Of 216 patients 63.4% were male (median followup 14.4 years). Overall 4 patients (1.9%) underwent primary diversion and 212 underwent primary closure (72.6% in first week of life). After primary closure 50.9% underwent augmentation, 4.7% diversion and 44.8% neither. By age 18 years 88.5% underwent a bladder neck procedure (synchronous augmentation 27.3%). On survival analysis the probability of bladder augmentation/diversion was 14.9% by age 5 years, 50.7% by 10 years and 70.1% by 18 years. Probability of bladder augmentation/diversion varied significantly between centers (p=0.01). Probability of bladder augmentation/diversion was 60.7% 10 years after bladder neck procedure. At last followup of the entire cohort 67.4% performed clean intermittent catheterization. Among 95 patients with intact native bladders 30.5% performed clean intermittent catheterization (channel 72.4%). Among 76 adults without a diversion 85.5% performed clean intermittent catheterization (augmented bladder 100.0% clean intermittent catheterization, native bladder 31.3%). Fifteen patients underwent diversion (continent 8, ureterosigmoidostomy 5, incontinent 2). On long-term followup probability of bladder augmentation/diversion increased with age, with 1 in 2 patients by age 10 years and the majority in adulthood. Probability of bladder augmentation/diversion differed among institutions. Almost a third of patients, including adults, with a closed native bladder performed clean intermittent catheterization. Considering all adults only 14% did not perform clean intermittent catheterization.

Duplicate exstrophy presenting as an apparent urethral duplication

Abstract Variants of the exstrophy-epispadias sequence are exceedingly rare. We report a case of a newborn with duplicate exstrophy of the bladder that mimicked a urethral duplication. We discuss the workup and review the embryology and treatment of exstrophy variants.

Association Between Exstrophy-epispadias Complex And Congenital Anomalies: A German Multicenter Study

ObjectiveTo further investigate associated anomalies in exstrophy-epispadias complex (EEC) patients congenital uro-rectal malformations network (CURE-Net) database was systematically screened. In literature the EEC comprises a spectrum of anomalies, mainly occurring “isolated” without additional congenital defects. Nevertheless, previous epidemiological studies indicated a higher association with renal, anorectal, and lower neurotubular anomalies, which may originate from the same developmental morphogenetic fields. Materials and MethodsSeventy-three prospectively (born since 2009) and 162 cross-sectional recruited EEC patients (born 1948-2008) were analyzed. Associated anomalies were derived from patient's medical data as well as from a physical examination during a physician's interview, classified according to the international statistical classification of diseases and related health problems and grouped with the London Dysmorphology Database. Descriptive statistical analyses were performed. ResultsMajority of participants were male (68%) and expressed the classical bladder exstrophy phenotype (71%). Exstrophy variants occurred significantly more often in newborns (21%, P < .0001). Anomalies such as inguinal hernias, skeleton, and joint anomalies were equally present in both groups (P = .65 and P = .67). Heart defects were seen more often in newborns (6%) than in the cross-sectional group (1%; P = .033) and the general German population (1%). In total, 59% of the prospective and 48% of the cross-sectional patients had associated anomalies outside the spectrum (P = .16). ConclusionPhenomenological multicenter data confirmed the dimension of associated anomalies inside and outside the EEC spectrum. The detected anomalies are either important in preparing for the primary reconstruction or later in long-term follow-up. Associated anomalies of EEC should be spotlighted during routine check-up in all EEC patients.

Superior vesical fissure in a case of prune belly syndrome with infravesical obstruction: Beneficial pop-off with a fatal congenital anomaly

A wide spectrum of renal, ureteral, and urethral abnormalities has been reported in a patient born with Prune belly syndrome (PBS). The obstruction in the urinary tract can be found anywhere from uppermost (pelviureteral junction) to lowermost (prostatic membranous urethra) urinary tract. The mesenchymal developmental arrest is the main embryological factor responsible for the major features of the syndrome like urethral abnormalities or gastrointestinal abnormalities. PBS patients with urethral obstruction commonly had a patent urachus, because of which such patients survived, early death usually occurred in those patients who did not had a patent urachus. We are reporting an interesting case of prune belly syndrome with superior vesical fissure (an exstrophy variant). To the best of our knowledge this was first reported case of association of two congenital anomalies having common embryological defect process. Presence of superior vesical fissure gives a new insight about the benefits gained by the child for surviving with such fatal congenital anomalies.

Combined Bladder Neck Reconstruction and Continent Stoma Creation as a Suitable Alternative for Continence in Bladder Exstrophy: A Preliminary Report

To explore the use of concomitant bladder neck reconstruction (BNR) and creation of a continent stoma (CS) in patients who are not quite eligible for BNR but still strongly desire volitional voiding. The authors retrospectively reviewed an institutional database of patients with exstrophy-epispadias complex who underwent BNR-CS between 2000 and 2015. Indications for a BNR-CS, perioperative outcomes, and continence status were evaluated. Method of voiding and continence status were analyzed for patients with greater than 6 months of follow-up after the BNR-CS. A total of 24 patients with exstrophy-epispadias complex (15 male and 9 female) underwent BNR-CS at a median age of 8.9 years (range 5.4-17.4). This included 18 patients with classic bladder exstrophy, 5 with epispadias, and 1 with a cloacal exstrophy variant. There were 5 surgical complications (20.1%) following the BNR-CS, including 3 febrile urinary tract infections, 1 superficial wound infection, and 1 urethrocutaneous fistula. The median follow-up time from the time of BNR-CS was 1.1 years (range 0.1-14.1). Seventeen of 24 patients (71%) had a follow-up greater than 6 months and were evaluated for continence. Twelve patients (71%) were completely dry for intervals greater than 3 hours following BNR-CS. Five (29%) did not achieve continence with BNR-CS. Of those 5 patients, 3 (60%) underwent subsequent bladder neck transection. Combined BNR and CS is a suitable alternative to achieve urinary continence in patients who are not ideal candidates for BNR alone. This approach can offer a select group of patients the opportunity for volitional voiding.

Pseudoexstrophy associated with penile duplication and hypospadias: A case report and literature review

Bladder exstrophy is a rare developmental anomaly. Four principle variants of bladder exstrophy have been described and they themselves are rarer than the bladder exstrophy. Authors describe the management of a case of pseudoexstrophy type of variant in a 9 month old male child with penile duplication with torsion and coronal hypospadias. The rectal fascial defect was repaired without osteotomy as the distance between two pubic bones was <4 cm (3.1 cm). Genital reconstruction with excision of duplicate atrophic penile shaft and repair of coronal hypospadias with detorsion of the functional penile shaft could be accomplished. The patient had good outcome in terms of cosmesis and urinary stream. Total of 18 cases of the pseudoexstrophy have been described till date. Pseudoexstrophy of bladder is a very rare condition and can simultaneously present with other defects like omphalocele, anorectal malformations, pouch colon, multiple or solitary urogenital anomalies. The principles of correction though remain same with correction of abdominal wall defect with or without osteotomy depending upon severity of pubic diastasis. Other anomalies can undergo treatment as per standard protocol.

Cystectomy in the Pediatric Exstrophy Population: Indications and Outcomes

To explore the long-term outcomes and indications for cystectomy in patients with bladder exstrophy. Although rare, cystectomy is the final surgical alternative to bladder repair among these patients with a poor quality bladder template. A prospectively maintained database of 1298 patients with exstrophy-epispadias complex was reviewed for patients who underwent cystectomy between 1970 and 2015 at the authors' institution. Demographic data, indication for cystectomy, surgical history, postoperative outcomes, and continence status were collected. Eighteen (6 male; 12 female) patients with exstrophy (15 classic bladder exstrophy; 2 bladder exstrophy variants; 1 cloacal exstrophy) underwent cystectomy at a median age of 3.8 years. Six patients (33.3%) underwent primary cystectomy without attempted bladder closure. Eight patients (44.4%) had a history of failed primary closure with loss of capacity or inadequate growth after closure. Four patients (22.2%) had successful primary closure but underwent cystectomy secondary to poor bladder compliance with declining renal function or poor bladder growth or quality. Urinary diversion included 6 cutaneous ureterostomies, 4 bowel conduits (1 ileal; 3 colon), 6 continent urinary diversions with ileosigmoid reservoir, and 1 ureterosigmoidostomy. Of 8 patients who underwent a continence procedure, all were dry at a median of 25.3 months after cystectomy. Cystectomy was most commonly indicated in intrinsically diseased bladder templates that remained too small despite permitting time for interval growth. These bladders often were of poor quality and compliance and did not reduce into the pelvis on examination. It was, however, possible to achieve urinary continence in these patients with cystectomy and urinary diversion.

Misdiagnosis of a cloacal exstrophy variant as urorectal septum malformation in a fetus by ultrasound: A case report

Cloacal exstrophy variants are comprised of a wide range of characteristics, of which there are four primary features, including omphalocele, bladder exstrophy, an imperforate anus and spina bifida. The existing literature regarding the differential diagnosis from alternative urinary diseases prenatally are limited. If the bladder is present, defects in the ventral wall may not be visualized with prenatal ultrasound in certain conditions, including oligohydramnios, and differential diagnosis from urorectal septum malformation sequence is a challenge. In order to improve the diagnosis of cloacal exstrophy variants, the present study investigated the misdiagnosis of a cloacal exstrophy variant as a urorectal septum malformation in a fetus by ultrasound and analyzed the reasoning of diagnosis in detail.

Duplicate Bladder Exstrophy with Hypospadias: A Rare Exstrophy Variant with Unusual Association.

Duplicate Bladder Exstrophy with Hypospadias: A Rare Exstrophy Variant with Unusual Association.

Antero-posterior Duplicate Exstrophy with a Wet Bladder Plate: A Diagnostic Dilemma

Variants of exstrophy are rare anomalies seen in the spectrum of bladder exstrophy-epispadias complex. We present a rare case of duplicate exstrophy with a wet bladder plate. This is a deviation from the classical description of antero-posterior duplicate exstrophy that is associated with a dry bladder plate.

True Duplicate Bladder Exstrophy: A Rare Case Report

A three months male child was admitted in our department as a rare variant of bladder exstrophy (true duplicate bladder exstrophy). There are only eight cases of this variant reported in the literature so far, we report an additional case to add the scarce literature.

Editorial Comment

The postoperative genital appearance of repaired exstrophy patients, both male and female, remains an area needing surgical refinements. This includes the scrotum, which can be challenging to reconstruct in male exstrophy patients because of pubic diastasis. I applaud the authors for describing a new technique by which scrotoplasty can be accomplished in these patients, with acceptable cosmetic results based on preliminary data. 1 Dangle P.P. Billimire D. Schneck F. Grunwaldt L.J. Bilateral Circum-scrotal Z-plasties for Creation of Single Scrotal Sac in Cloacal Exstrophy With Widely Divergent Scrotal Sacs. Urology. 2015; 86: 808-810 Abstract Full Text Full Text PDF Scopus (1) Google Scholar Larger series using this technique will be necessary to determine whether the outcomes to date will hold true over time. Bilateral Circum-scrotal Z-plasties for Creation of Single Scrotal Sac in Cloacal Exstrophy With Widely Divergent Scrotal SacsUrologyVol. 86Issue 4PreviewSignificant number of patients with cloacal exstrophy variants present with poorly developed scrotum. Widely divergent hypoplastic scrotal sacs pose a technical challenge for scrotal reconstruction. We describe a technique of bilateral Z-plasty for the creation of single scrotal sac in a patient with widely divergent, hypoplastic scrotal sacs. Full-Text PDF ReplyUrologyVol. 86Issue 4PreviewCloacal exstrophy omphalocele-exstrophy-imperforate anus-spinal (OEIS) defects complex is rare with incidence of 1 in 200,000-400,000 pregnancies. Although the incidence of the associated scrotal anomalies is relatively high in patients with omphalocele-exstrophy-imperforate anus-spinal defects complex, very few cases are managed during individual's career. Full-Text PDF