Pseudoexstrophy associated with congenital pouch colon

Pseudoexstrophy or covered exstrophy is a rare exstrophy variant. The authors report a case of covered exstrophy that presented as a newborn with widely separated pubic bones and rectus muscles, a low-set umbilicus, and a subcutaneous bladder. The anal opening was absent, and there was a complex malformation of the external genitalia consisting of a small, laterally displaced penis and a right-sided ectopic hemiscrotum. Micturition and urinary continence were normal. The child also had a high anorectal malformation with a coexistent type IV congenital pouch colon (CPC) malformation. Both kidneys were normal. Preliminary surgery consisted of a divided sigmoid colostomy proximal to the colonic pouch. The literature is reviewed and the embryogenesis of pseudoexstrophy and its associated malformations are discussed.     

Current management of bladder exstrophy

This article describes in detail the modern management of the patient born with classic bladder exstrophy. Also, new techniques of prenatal diagnosis and pelvic fixation to secure the initial or secondary closure are discussed. Last, management of the failed closure and the bladder not suitable for closure are described and outlined. A successful initial closure of the infant born with bladder exstrophy is the single most important determinant in the eventual development of continence in the exstrophy patient.     

Evaluation of smooth muscle and collagen subtypes in normal newborns and those with bladder exstrophy

PURPOSE: Many patients who undergo bladder exstrophy closure as newborns, subsequent epispadias repair and later bladder neck reconstruction become completely continent yet complications can occur. After successful initial exstrophy closure and later epispadias repair some patients may fail to gain sufficient capacity for bladder neck reconstruction or satisfactory capacity and continence after bladder neck reconstruction. In an attempt to understand the pathogenesis of these failures we compared bladder biopsies from normal neonates and those with exstrophy. MATERIALS AND METHODS: Bladder biopsies obtained from the midline of the bladder wall just above the base of the trigone from 12 newborns with exstrophy were compared to bladder sections from 9 neonatal cadavers. All bladder specimens were stained with monoclonal antibodies against type I, III or IV collagen and a subset was further stained with Masson's trichrome to define the extracellular matrix. All specimens were then analyzed using a color digital image analysis system. RESULTS: At initial examination of the extracellular matrix there was an increase in the collagen-to-smooth muscle ratio from 0.38 in controls to 1.2 in newborns with exstrophy, comprising an increase in collagen and decrease in smooth muscle. The collagen component of the extracellular matrix was then further defined to quantitate the amount of each collagen type (I, III and IV) deposited. We then evaluated the ratio of collagen type-to-total collagen sampled. Compared to control bladders there was no statistical difference in the amount of type I or IV in the bladders of newborns with exstrophy at initial closure. However, there was a 3-fold increase in type III collagen (0.14 +/- 0.05 to 0.46 +/- 0.2%, p < 0.001) in the bladders of neonatal controls versus newborns with exstrophy. CONCLUSIONS: This alteration in collagen makeup may represent an earlier developmental stage of the exstrophy bladder at birth, which then remodels and changes after successful initial closure. Further studies are underway to examine the collagen composition of bladders at bladder neck reconstruction, failed closures and augmentation.     

Variations in the bladder exstrophy complex associated with large omphalocele

Two newborns with a large omphalocele associated with the bladder exstrophy complex are presented. In 1 case the omphalocele was combined with a musculoskeletal defect and imperforate anus with an anovulvar fistula. The other patient had a musculoskeletal deformity and a duplicated bladder with exstrophy. Surgical treatment was successful in both cases.     

Myofascial wrap to treat intractable urinary incontinence in children

OBJECTIVES: The management of intractable urinary incontinence in the patient with cloacal or bladder exstrophy/epispadias, failed bladder neck plasty, or failed augmentation cystoplasty remains a surgical challenge. The myofascial wrap, a modification of the rectus fascial wrap, was developed to treat intractable urinary incontinence due to sphincteric incompetence in these problematic cases. A full-thickness, vascularized pedicle of anterior rectus sheath, rectus abdominis muscle, and posterior rector sheath is incorporated into a bladder neck wrap to provide support, mucosal coaptation, and active muscular tone. METHODS: Eight patients (5 females and 3 males) with total urinary incontinence due to sphincteric incompetence underwent the myofascial wrap. Urinary tract pathology included cloacal exstrophy (2), female epispadias (2), classic bladder exstrophy (1), male epispadias (1), myelomeningocele (1), and a pelvic tumor (1). The procedure is performed by harvesting a full-thickness strip of pedicled rectus muscle along with the anterior and posterior fascial sheaths. The strip is passed underneath and then over the bladder neck in a near 360 degrees wrap. The free end of the wrap is anchored into the pubic bone in an ipsilateral subperiosteal pouch. RESULTS: Six of the 8 patients are completely continent, and 2 patients void spontaneously without the need for catheterization. CONCLUSIONS: The myofascial wrap provides support, mucosal coaptation, and muscular tone to an incompetent sphincter and bladder neck. Favorable results in a very difficult population of pediatric patients warrant its continued use.     

Characterization of mutations at the mouse phenylalanine hydroxylase locus

By using a three-dimensional computed tomography (CT) scanner, we compared the anatomic features of the pelvis of three fetuses of same gestational age, one with a normal pelvis representing the reference model, one with classic bladder exstrophy, and one with cloacal exstrophy. The tomography slices were selected at the same levels for each case. Three angles expressing external opening of the pelvis were defined. Comparing normal and abnormal pelvises allowed definition of three criteria for the correction of the malformation: (a) the sum of the differential angles gives the amplitude of the correction needed; (b) a supraacetabular osteotomy appears to allow best closure of the pelvic ring; (c) only three slices of a CT scan are needed, which cannot be harmful, especially for neonates. Therefore, we believe that a CT scan of the pelvis should be performed whenever an osteotomy is planned in the surgical reconstruction of bladder and cloacal exstrophy.     

Gabexate mesilate plus intravenous gammaglobulin treatment in children with diarrhoea-associated haemolytic uraemic syndrome

Bladder exstrophy is an unusual congenital anomaly. Patients becoming pregnant with such anomaly after surgical repair are even rarer. The present case reports a lower segment Caesarean section delivery of a living healthy baby in a woman who had been operated on for bladder exstrophy at the age of 18 years. This is the first case of this type seen in our institution in 35 years.     

The choice of the method for the surgical treatment of bladder exstrophy

129 children with exstrophy of the bladder underwent primary surgical reconstruction according to G. A. Bairov. Morphofunctional findings in these children gave grounds for determination of three degrees of the bladder congenital defects. 39 patients had defect of the 1st degree, 53 of the 2nd and 37 of the 3d degree. The results of plastic reconstruction of the bladder with local tissue support the validity of such procedure only for patients with the congenital defect degree I. For degree II the benefit is relative. In degree III plastic surgery in contraindicated.     

Utility and safety of parotid gland biopsy in Sj?gren''s syndrome

OBJECTIVE: To review the results of bladder-neck reconstruction in patients with repaired bladder exstrophy and pubic diastasis. PATIENTS AND METHODS: Nine girls (mean age 7 years, range 4-17) and four boys (mean age 9 years, range 5-15) underwent a modified Young-Dees-Leadbetter bladder-neck reconstruction with augmentation cystoplasty (YDL-C). The patients were reviewed retrospectively (follow-up, 1-6 years) to assess continence, particularly in relation to the degree of pubic diastasis measured on an appropriate abdominal radiograph. RESULTS: Ten patients were continent; seven girls and one boy are managed by clean intermittent catheterization (CIC) and one girl and one boy void normally. One girl who would not allow CIC and one boy in whom CIC was not possible are incontinent and are scheduled for construction of a continent diversion. One incontinent boy who also would not allow CIC was lost to follow-up. Public diastasis had no bearing on the surgical results, the 10 continent patients having diastasis ranging from 4 to 9 cm (mean 5.5 cm) and the incontinent patients a diastasis of 3.4 and 6.5 cm (mean 4.5 cm). CONCLUSION: Young-Dees-Leadbetter bladder-neck reconstruction with augmentation cystoplasty is a satisfactory operation in patients with bladder exstrophy. We believe that the rate of continence reflected a competent tubularization with an adequate bladder capacity and assured bladder emptying. A closed pelvis with approximated public bones is not necessary to achieve this objective.     

Reconstruction of the umbilicus in exstrophy

Reconstruction of the umbilicus has cosmetic and functional value in the surgical treatment of the child with bladder exstrophy. We report on 12 patients who underwent creation of a neoumbilicus as part of genitourinary reconstruction.     

Pseudoexstrophy

Pseudoexstrophy is a rare, mild exstrophy variant which involves the major musculoskeletal defects of the exstrophy complex without any associated defect in the urinary system. A case is reported presenting at birth as an umbilical positional anomaly. Differential diagnosis and management are reviewed.     

Use of tissue expanders in final reconstruction of infrapubic midline scar, mons pubis, and vulva after bladder exstrophy repair

Two patients following bladder exstrophy repair presented for final cosmetic reconstruction with the characteristic lower abdominal midline scar, bisected mons pubis, and laterally displaced labia majora. Tissue expanders were used to obtain additional skin and subcutaneous tissue. After adequate serial expansion, the expanders were removed, scar tissue excised, and primary approximation of healthy tissues performed. A tension-free closure and esthetically pleasing midline incision, mons pubis, and vulva were obtained.     

Induction of early and bioeffective antibody response in rodents with the luteinizing hormone-releasing hormone vaccine given as a single dose in biodegradable microspheres along with alum

Total urinary incontinence is a difficult problem faced by the urologist. Several techniques to increase ureteral resistance have been described. The majority of them rely on intermittent catheterization for bladder emptying, especially in neurogenic incontinence. We have developed a new procedure in which a bladder flap is used to create a neourethra. This urethral extension acts as a flap valve to provide continence. Bladder emptying is accomplished by clean intermittent catheterization. Urethral lengthening with an anterior bladder-wall flap was performed in 18 patients aged a mean of 8.9 years who had neurogenic incontinence (14) or exstrophy (4). Patients with previous bladder interventions received a lateralized anterior flap. Bladder augmentation was performed in 14 of the 18 patients [detubularized ileum (11), detubularized colon (3)]. The average follow-up period is currently 29.3 months. Continence was achieved in 13 of the 18 patients (72%). Complications included urethrovesical fistulae, which developed in two patients. Two patients could not perform catheterization due to pain but had no obstruction to passage of catheter (exstrophy). Ureteral lengthening with an anterior bladder-wall flap is a useful alternative for the surgical treatment of urinary incontinence. This technique achieves a good continence rate and presents few problems with catheterization.     

Cloaca, the most severe degree of imperforate anus: experience with 195 cases

OBJECTIVE: To provide a follow-up of 195 patients with cloacal malformations seen by the author from 1959 to 1998. SUMMARY BACKGROUND DATA: Cloaca, which occurs in approximately 1 of 50,000 births, is the most complex type of imperforate anus with confluence of the rectum, vagina, and bladder in a urogenital sinus. Functional results for the bowel, the genital tract, and the urinary tract were formerly poor. Cloacal exstrophy, which is an even more complex spectrum of malformations, was uniformly fatal until 1960. In addition to imperforate anus, these babies have an omphalocele, two exstrophic bladders, between which there is an open cecum, and a blindly ending colon hanging down in the pelvis from the cecum. Although both of these diagnoses contain the word "cloaca," which is Latin for sewer, they are really two separate entities in terms of surgical management. Cloaca and cloacal exstrophy in most cases are very different anatomic problems. However, there are variants that are like a hybrid, which is the rationale for reporting together an experience with both entities. METHODS: Records were reviewed of 154 patients with cloaca and 41 patients with cloacal exstrophy to assess anorectal function, urinary continence, and sexual function where available. RESULTS: Follow-up was available in 141 cloaca patients: 82 have spontaneous bowel movements and satisfactory control, 38 use enemas to evacuate, 9 have a colostomy, 7 have fecal soiling, and 5 are too recently operated to evaluate. Regarding urinary control, 83 void spontaneously, 40 catheterize to empty, 4 have urinary diversion, 1 has a continent diversion, 5 patients are wet, and 8 are too recently operated to judge. Twenty-four patients are now adults, 17 of who have experienced coitus and 7 have not. Seven have had babies, all except one by cesarean section. Results of surgery for cloacal exstrophy are not as good, but are encouraging nonetheless for an anomaly that was uniformly fatal before 1960. Of the 41 cloacal exstrophy patients being followed, 7 have not undergone surgery. Fifteen have a colostomy; 19 had pull-through of the colon, but 3 were subsequently reversed for fecal incontinence. Most depend on enemas to evacuate. Urinary dryness was attained in 30 patients, usually by intermittent catheterization of the bladder, which was augmented with small bowel or stomach or both. Only three void voluntarily. Fifteen of the completed long-term patients wear no bag. Only three of the completed patients wear two bags. The rest have one bag. CONCLUSIONS: Imperforate anus and associated malformations in cloaca and cloacal exstrophy are not hopeless problems. A reasonable lifestyle can be achieved for most of these children with comprehensive surgical planning.     

Current urologic management of cloacal exstrophy: experience with 11 patients

PURPOSE: Since 1980 the authors have treated 12 infants with cloacal exstrophy (10 classical and 2 variants). Eleven patients had repair, and are all surviving. The initial phases of management that led to improved survival have previously been reported. Quality of life is now a major focus for the cloacal exstrophy patient. During the past 10 years, nine of the 11 patients had lower urinary tract reconstructive procedures. This review evaluates experience with reconstructive efforts to achieve bowel and bladder control and to improve the quality of life in this complex group of patients. METHODS: Through review of patient charts and by patient interviews, data were collected to evaluate the ability to provide urinary and bowel control. A continence score was applied to provide a measure of success: voluntary control, 3; control with an enema program or intermittent catheterization, 2; incontinence with a well-functioning stoma, 1; and incontinence without a stoma, 0. The best continence score is 6 (genitourinary and gastrointestinal). Surgical complications, urodynamic and metabolic sequelae of continent urinary diversion were reviewed. RESULTS: At the time of the authors' previous report, eight of 11 patients had a continence score of 2 or less. Currently, eight of 11 patients have a score of 3 or better (five with enteric stoma and continent urinary diversion, two with enema program and continent urinary diversion, and one with enema program and continent bladder). Urinary-diversion procedures have included two gastric augmentations and five gastric reservoirs, two of which have required subsequent bowel augmentation. Gastric augmentations carry a definite risk of metabolic problems with three of our patients demonstrating significant episodes of metabolic alkalosis. In addition, results of urodynamic monitoring suggests that gastric reservoirs may be less compliant than reservoirs formed using other bowel segments. CONCLUSIONS: Modern principles of continent urinary diversion have been successfully applied to the cloacal exstrophy patient further improving their quality of life. Use of gastric flaps with preservation of intestinal length has been central to urologic reconstructive efforts. Use of stomach alone for formation of urinary reservoirs may produce suboptimal compliance, and composite ileogastric construction should be considered if the gastric flap is of marginal size.     

Colon carcinoma after ureterosigmoidostomy--a case report

Ureterosigmoidostomy was the method of choice for continent urinary diversion in cases of bladder exstrophy. The development of colonic cancer at the ureterocolic junction is one of the major complications in the late course of this procedure. The risk of large bowel carcinoma is increased 150-500-fold compared to the general population. Therefore regular examinations are mandatory. Based on a case report the problems associated with ureterosigmoidostomy are presented.     

Helicobacter pylori and gastric lymphoma]

BACKGROUND: Continent urinary diversion may be necessary in a range of urological abnormalities. In circumstances where the standard techniques are not possible, alternative innovative techniques may be used. METHODS: In a female patient with bladder exstrophy, a continent diversion was recommended. The appendix was not available, the ureters were not suitable and a continent stoma was fashioned from an isolated segment of colon. RESULTS: The stoma proved to be continent, although it was somewhat stenotic. However, clean intermittent catheterization maintained its patency. CONCLUSIONS: A continent catheterizable stoma may be constructed from a segment of colon. The technique may be considered when other well recognized methods are not feasible.     

Rectus abdominis muscle flap (RAMF) technique for the management of bladder exstrophies: late clinical outcome and urodynamic findings

OBJECTIVE: To investigate the efficacy of the rectus abdominis muscle flap (RAMF) technique for the closure and augmentation of small, non-compliant bladder exstrophies. PATIENTS AND METHODS: The RAMF technique was used in two girls and two boys (mean age at operation, 31.7 months, range 3-72) with bladder exstrophy. The clinical outcome and urodynamics were assessed during a follow-up of 29 months to 6 years (mean 49.2 months) and included imaging, cystoscopy, biochemical and microbiological studies. RESULTS: There were no urinary tract infections, metabolic problems or electrolyte disturbances and kidney function remained normal in all patients. Radiography confirmed intact function and anatomy of the urinary tract and cystoscopy showed complete coverage of the inner peritoneal layer of RAMF with uroepithelium. No stone formation or mucus production were detected. Currently, three patients void using clean intermittent catheterization through the native urethra and the fourth through an appendiceal Mitrofanoff valve. However, the bladder volume was insufficient at the late follow-up and three patients required bladder augmentation. CONCLUSIONS: The RAMF technique is a good alternative for closing bladder exstrophies and achieves an increase in bladder capacity; however, although there is a mild improvement in bladder capacity and compliance. RAMF should not be used as a bladder augmentation procedure. The technique is indicated in the closure of large bladder defects, bladder exstrophies with small, inelastic, non-compliant bladder remnants and failed primary closures.     

Primary, pure, large-cell neuroendocrine carcinoma of the urinary bladder

We report what to our knowledge is the first case in the English-language literature of a primary, pure, undifferentiated large-cell neuroendocrine carcinoma of the urinary bladder. To date, only one case of a large-cell neuroendocrine carcinoma was reported, and it was associated with an adenocarcinoma most likely of urachal origin. On the other hand, slightly more than 100 cases of undifferentiated small-cell carcinoma of the urinary bladder were reported, approximately one-half of which were associated with poorly differentiated transitional-cell carcinoma of the conventional type. The patient in our case was a 73-year-old man with a history of prostatic cancer treated with radiation therapy. He presented with hematuria, leading to the discovery of a solitary tumor on the dorsal wall of the urinary bladder. A diagnosis of large-cell neuroendocrine carcinoma was made, supported by immunohistochemical reactivity for chromogranin, neuron-specific enolase, and synaptophysin; a variety of other hormonal markers of neuroendocrine tumors were negative. The radical cystoprostatectomy and bilateral pelvic lymphadenectomy specimen showed a transmurally invasive tumor, without regional lymph node metastases. The patient died 2 months after surgery, and the autopsy revealed disseminated metastases histologically identical to the urinary bladder neoplasm. Awareness of the occurrence of large-cell neuroendocrine carcinoma of the urinary bladder seems to be important because of the possible aggressive outcome associated with this tumor and because of differential diagnostic considerations, which include malignant lymphoma and metastasis from another primary, especially in tumors occurring in a pure form.