Ex0strophy –epispadias complex

Dr Anchal

dnb resident

MMHRC

The exstrophy-epispadias complex of genitourinary malformations is heterogenous group of clinical entity resulting from abnormal cloacal development.

The cause of this is thought to be the failure of the cloacal membrane to be reinforced by ingrowth of mesodermis .

The first account of bladder exstrophy was ascribed to Assyro-Babylonian sources dating from the first and second millennia

The first recorded case of epispadias is attributed to the Byzantine Emperor Heraclius (AD 610-641) and the first description of bladder exstrophy to Schenck in 1595

Incidence and Inheritance

The incidence :1 in 10,000 to 1 in 50,000 (Lattimer and Smith,1966) live births

The male-to-female ratio is 5 : 1 to 6 : 1 .

Risk factors

The risk of bladder exstrophy in the offspring of individuals with bladder exstrophy and epispadias is 1 in 70 live births.

Bladder exstrophy tends to occur in infants of younger mothers,

a 10-fold increase in exstrophy births to mothers who had received large doses of progesterone in the early part of the first trimester

Assisted reproductive techniques is a risk factor.

Embryology

Bladder exstrophy, cloacal exstrophy, and epispadias are variants of the exstrophy-epispadias complex .

The theory of embryonic maldevelopment in exstrophy held by Marshall and Muecke (1968) is that the basic defect is an abnormal overdevelopment of the cloacal membrane, which prevents medial migration of the mesenchymal tissue and proper lower abdominal wall development.

The timing of rupture of this defective membrane determines the variant of the exstrophy-epispadias complex that results

Classic exstrophy accounts for more than 50% of the patients born with this complex

OTHER THEORIES

failure of one or both of the lateral body wall folds to move far enough ventrally to meet its counterpart in the midline (Sadler and Feldkamp, 2008).

Abnormal development of the genital hillocks caudal to the normal position.

There may be involvement of the allantois in the development of cloacal exstrophy (Zarabi and Rupani, 1985).

lack of “rotation” of the pelvic ring primordium prevents structures attached to the pelvic ring from joining in the midline, allowing herniation of the bladder to occur

ENTITIES COMPRISING EXSTROPHY –EPISPADIAS COMPLX

CLASSIC BLADDER EXSTROPHY

Skeletal Defects

classic bladder exstrophy have a mean external rotation of the posterior aspect of the pelvis of 12 degrees on each side, retroversion of the acetabulum, and a mean 18 degrees of external rotation of the anterior pelvis, along with 30% shortening of the pubic rami, and diastasis of the symphysis pubis .

The sacrum in exstrophy has a 42.6% larger volume and 23.5% more surface area than in controls

These rotational deformities of the pelvic skeletal structures contribute to the short, pendular penis increased distance among the hips,waddling gait, and outward rotation of the lower limbs

Pelvic Floor Defects

The levator ani group is positioned more posteriorly in exstrophy patients, with 68% located posterior to the rectum and 32% anterior (vs. 52% posterior and 48% anterior in healthy controls)

The levators are also rotated outward 15.5 degrees, and in the coronal aspect the levators are 31.7 degrees more flattened than normal.

This deviation from normal makes the exstrophy puborectal sling more flattened than its normal conical shape.

Abdominal Wall Defects

The triangular defect caused by the premature rupture of the abnormal cloacal membrane is occupied by the exstrophy bladder & posterior urethra. The fascial defect is limited inferiorly by the intrasymphyseal band.

an umbilical hernia is usually present, it is usually of insignificant size.

Anorectal Defects

The perineum is short and broad, and the anus corresponds to the posterior limit of the triangular fascial defect

The divergent levator ani and puborectalis muscles and the distorted anatomy of the external sphincter contribute to varying degrees of anal incontinence and rectal prolapse

Male Genital Defect

The male genital defect is severe and is probably the most troublesome aspect of the surgical reconstruction

The anterior corporal length of male patients with bladder exstrophy is almost 50% shorter than that of normal controls [ Silver and colleagues]

The volume, weight, and maximum cross-sectional area of the prostate appeared normal compared with published control values

The vas deferens and ejaculatory ducts are normal in the exstrophy patient fertility is not impaired by testicular dysfunction.

Female Genital Defects

The vagina is shorter than normal, hardly greater than 6 cm in depth, but of normal caliber

The vaginal orifice is frequently stenotic and displaced anteriorly, the clitoris is

bifid, and the labia, mons pubis, and clitoris are divergent.

The fallopian tubes and ovaries are normal.

Urinary Defects

Varying degrees of polyps, von Brunn nests, cystitis cystica, and cystitis glandularis can be found.Cystitis glandularis was noted in a higher percentage of secondary closures.

Because of the potential risk of adenocarcinoma associated with cystitis glandularis, future surveillance of these patients with urine cytology and cystoscopy as they enter adulthood is recommended

Most of patients have compliant and stable bladders before bladder neck reconstruction.

Horseshoe kidney, pelvic kidney, hypoplastic kidney, solitary kidney, and dysplasia with megaureter are all encountered in these patients

Prenatal Diagnosis

Absence of bladder filling,

a low-set umbilicus

widening pubis

diminutive genitalia,

a lower abdominal mass that increases in size as the pregnancy progresses and as the intraabdominal viscera increases in size

Evaluation and Management at Birth

In the delivery room the umbilical cord should be tied with 2-0 silk close to the abdominal wall so that the umbilical clamp does not traumatize the delicate mucosa and cause excoriation of the bladder surface

The bladder can then be covered with a nonadherent film of plastic wrap to prevent sticking of the bladder mucosa to clothing or diapers.

Selection of Patients for Immediate Closure

The exstrophied bladder that is estimated at the time of birth to have a capacity of 5 mL or more and demonstrates elasticity and contractility can be expected to develop useful size and capacity after successful bladder, posterior urethral, and abdominal wall closure with early epispadias repair

penoscrotal duplication, ectopic bowel within the extruded bladder , a hypoplastic bladder, and significant bilateral hydronephrosis preclude primary repair

waiting for the bladder template to grow for 6 to 12 months in the child with a small bladder can be done

excision of the bladder and a nonrefluxing colon conduit or ureterosigmoidostomy can be done for totally unfit bladder.

Modern Reconstructionof Bladder Exstrophy

The bladder closure, abdominal wall closure, and posterior urethral closure well onto the penis in the newborn period with bilateral innominate and vertical iliac osteotomy,if indicated should be done

epispadias repair at 6 months to 1 year of age; bladder neck reconstruction along with antireflux procedure at age 4 to 5 years, when the child has achieved an adequate bladder capacity

Osteotomy

The most frequently used osteotomy today is the bilateral anterior innominate and vertical iliac osteotomy

If the patient is younger than 72 hours old and examination under anesthesia reveals that the pubic bones are malleable and able to be brought together easily in the midline by medial rotation of the greater trochanters, the patient can undergo closure without osteotomy

ADVANTAGES Easy approximation of the symphysis with

diminished tension on the abdominal wall closure and elimination of the need for fascial flaps;

placement of the posterior vesicourethral unit deep within the pelvic ring, enhancing bladder outlet resistance; and

bringing the large pelvic floor muscles near the midline, where they can support the bladder neck and aid in eventual urinary control

At the end of the procedure, the pelvis is closed with a suture between the two pubic rami. The external fixators are then applied between the pins to hold the pelvis in a correct position

The external fixator is kept on for 4 to 6 weeks, until adequate callus is seen at the site of the osteotomy

Bladder, Urethral, andAbdominal Wall Closure

Before removal of the suprapubic tube, 4 weeks after surgery, the bladder outlet is calibrated by a urethral catheter or a urethral sound to ensure free drainage.

Cystoscopy and cystography at yearly intervals are used to evaluate the degree of reflux and to provide an estimate of bladder capacity .

Epispadias Repair

In a group of patients with a small bladder capacity after initial closure, there was a mean increase of 55 mL in males in only 22 months after epispadias repair.

Because most boys with exstrophy have a somewhat small penis and a shortage of available penile skin, all patients undergo testosterone stimulation before urethroplasty and penile reconstruction

correction of dorsal chordee,

urethral reconstruction,

glanular reconstruction, and

penile skin closure.

Modified Cantwell-Ransley Repair

Penile Disassembly Epispadias Repair

This technique of epispadias repair was developed by Mitchell and Bagli (1996).

It has now been incorporated in the CPRE exstrophy repair for primary closure in the newborn

Continence and Antireflux Procedure

some modern exstrophy repairs claim to establish suitable continence without formal bladder neck repair.

EACH CHILD should undergo gravity cystogram under anesthesia yearly after newborn closure to assess bladder growth

Continence and antireflux procedures performed at the age of 4 or 5 .

Modified Young-Dees-Leadbetter bladder neck reconstruction

At the end of 3 weeks the suprapubic tube is clamped, and the patient is allowed to attempt to void.

Initially, the tube should not be clamped for more than 1 hour. If voiding does not occur, the child is given an anesthetic and an 8-Fr Foley catheter is placed.

This is left in place for 5 days and removed, and then another voiding trial is begun.

CLOACAL EXSTROPHY

Cloacal exstrophy includes a spectrum of abnormalities but is primarily an anterior abdominal wall defect

A reported incidence of 1 : 200,000 to 1 : 400,000 makes this one of the rarer urologic abnormalities

Most cases are sporadic, and isolated incidences of unbalanced translocations have been reported

cloacal exstrophy includes exstrophy of the bladder, complete phallic separation, wide pubic diastasis, exstrophy of the terminal ileum between the two halves of the bladder, a rudimentary hindgut, imperforate anus, and the presence of an omphalocele.

Abnormalities of the spinal cord or vertebral column, or both,have been noted in 85% to 100% of children

ABNORMALITIES

The pelvic defects that are seen with classic bladder exstrophy are noted with greater severity in the patient with cloacal exstrophy.

The interpubic distance (diastasis) in children with cloacal exstrophy was noted to be almost twice that of children with classic bladder exstrophy.

Skeletal and limb anomalies were also reported by Diamond (1990) in 12% to 65% of cases

Intestinal Tract Abnormalities

the incidence of omphalocele is around 88%

malrotation, duplication anomalies,and anatomically short bowel occur with varying frequencies.

A hindgut remnant of varying size is also noted in most patients

Genitourinary Abnormalities

The most commonly reported müllerian anomaly was uterine duplication, seen in 95% of patients

Upper urinary tract anomalies occurred in 41% to 60% of patients

Genital anomalies in the male have typically included complete separation of the two phallic halves and accompanied separation of the scrotal halves.

Testes may be noted in the scrotum but are frequently noted to be undescended, and associated inguinal hernias are a common finding.

Girls typically have widely divergent clitoral halves

two exstrophied hemibladders flanking the exstrophied intestinal segment.Each bladder half usually drains the ipsilateral ureter

Prenatal Diagnosis

The three main criteria used to identify the diagnosis are a large midline infraumbilical anterior abdominal wall defect, lumbosacral myelomeningocele, and failure to visualize the urinary bladder

early diagnosis may permit appropriate prenatal counseling for parents and expedite postnatal care.

Gender Assignment

Because of the significant separation of the corpora of the penis and scrotum and the reduction in corporal size noted in boys with cloacal exstrophy, early reports had recommended universal gender reassignment of boys (46,XY) with cloacal exstrophy to functional females.

Currently, however, most authors recommend assigning gender that is consistent with karyotypic makeup of the individual if at all possible .

Modern Functional Reconstruction ofCloacal Exstrophy Immediate Neonatal Assessment Evaluate associated anomalies Decide whether to proceed with reparative surgery Functional Bladder Closure (Soon after Neonatal

Assessment) ONE-STAGE REPAIR (FEW ASSOCIATED ANOMALIES) Excision of omphalocele Separation of cecal plate from bladder halves Joining and closure of bladder halves and urethroplasty Bilateral anterior innominate and vertical iliac osteotomy Gonadectomy in males with unreconstructible phallus Terminal ielostomy/colostomy Genital revision if needed

TWO-STAGE REPAIR

First stage (newborn period) Excision of omphalocele Separation of cecal plate from bladder halves Joining of bladder halves Gonadectomy in male with unreconstructible

phallus Terminal ileostomy/colostomy

Second stage Closure of joined bladder halves and

urethroplasty Bilateral anterior innominate and vertical iliac

osteotomy Genital revision if necessary

Anti-Incontinence/Reflux Procedure (age 4-5 yr)

Bladder capacity ≥ 85 mL (small select group of patients)

Young-Dees-Leadbetter bladder neck reconstruction

Bilateral Cohen ureteral reimplantations Bowel and/or stomach segment used to augment

bladder Or Continent diversion with abdominal/perineal stoma

Vaginal Reconstruction Vagina constructed or augmented using colon,

ileum, or fullthickness skin graft

LONG-TERM ISSUES INCLOACAL EXSTROPHY

Bowel and continence problems

Fertility appears to be universally compromised in boys, but girls have normal fertility and pregnancy has been reported.

Girls have higher degrees of cervical prolapse when compared with their counterparts with bladder exstrophy

Despite the extensive malformations noted, many patients have gone on to live fruitful lives.

EPISPADIAS

Epispadias varies from a mild glanular defect in a covered penis to the penopubic variety with complete incontinence in males or females.

Isolated male epispadias is a rare anomaly, with a reported incidence of 1 in 117,000 males

Most male epispadias patients (about 70%) have complete epispadias with incontinence

MALE EPISPADIAS FEMALE EPISPADIAS

Associated Anomalies

Diastasis of the pubic symphysis, and deficiency of the urinary continence mechanism

The only renal anomaly observed in 11 cases of epispadias was agenesis of the left kidney

The ureterovesical junction is inherently deficient in complete epispadias, and the incidence of reflux has been reported in a number of series to be between 30% and 40%

Surgical Management

In patients with complete epispadias and good bladder capacity, epispadias and bladder neck reconstruction can be performed in a single-stage operation.

A firm intrasymphyseal band typically bridges the divergent symphysis, and an osteotomy is not usually performed

Epispadias reconstruction ca be done by Modified Cantwell-Ransley Repair, Penile Disassembly Epispadias Repair.

The Young-Dees-Leadbetter bladder neck plasty, Marshall-Marchetti- Krantz suspension, and ureteral reimplantation are performed when the bladder capacity reaches approximately 80 to 85 mL, which usually occurs between 4 and 5 years of age.

Clinically, these bladders are more supple, easier to mobilize, and more amenable to

bladder neck reconstruction.

SEXUAL FUNCTION AND FERTILITYIN THE EXSTROPHY PATIENT

Male Patient

Sporadic instances of pregnancy or the initiation of pregnancy by males with bladder exstrophy have been reported.

Male patients with genital reconstruction and closure of the urethra demonstrated high risk of infertility.

newer techniques such as gamete intrafallopian transfer (GIFT) or intracytoplasmic sperm injection (ICSI) can be used to assist these patients in their goal of pregnancyachievement.

Sexual function and libido in exstrophy patients are normal

Female Patient

Vulvoplasty is sometimes indicated in patients before they become sexually active or startusing tampons.

most patients will require vaginoplasty before intercourse could take place

vaginal prolapse and uterine prolapse were noted commonly and even quite early in life (mean age 16 years).

Review of the literature reveals 45 women with bladder exstrophy who successfully delivered 49 normal offspring.

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