The exstrophy epispadias complex

The exstrophy epispadias complex
medical students

1. The exstrophy-epispadias
complex
DR. ELSAYEDSALIH M.D.

2. Introduction
The exstrophy-epispadiascomplex (EEC) is a rare spectrum of defects
of genitourinary and gastrointestinal tracts, musculoskeletal system,
pelvic floor musculature, and bony pelvis.
The three most common presentations of EEC:
1.Epispadias
2.Classic bladder exstrophy(CBE)
3.Cloacal exstrophy(CE)

3. ▪CompleteepispadiasistheleastsevereformofEECandpresents
withadorsallyopenurethralmeatuswithmildpubicdiastasisand
aclosedanteriorabdominalwallandbladder.
▪CBE,themostcommonpresentationofEEC,presentswithawide
pubicdiastasisandanabdominalwalldefectexposinganopen
bladderandurethrawithanepispadiacopening.

4. ▪CE,themostsevereofthethreepresentations,issimilar,buta
portionofcecumorhindgutseparatesthetwoopenhemi
bladders.
▪CEwithmalformationsofthegastrointestinal,musculoskeletal,
andcentralnervoussystems,alsoknownastheOEIS
(omphalocele,exstrophy,imperforateanus,andspinal
abnormalities)complex.

5. Presentations of
the exstrophy-
Epispadias
complex:
(a)complete male epispadias,
(b)complete female epispadias,
(c)classic bladder exstrophy
(d)cloacal exstrophy

6. Epidemiology
▪CompleteEpispadias:Itoccursinoneinevery117,000malebirths,
andonlyoneofevery484,000femalebirths.
▪CBE:oneper10,000to50,000birthsandaffectingmalestwiceas
oftenasfemales.
▪CE:onein200,000births,

7. Risk factors of EEC
▪Caucasian race
▪young maternal age and maternal multiparity.
▪children conceived with assisted-reproductive technologies such as
in vitro fertilization

8. Etiopathogenesis
▪The cause of EEC is not completely understood
▪Theory of a disorder of cloacal membrane development.
▪During the fourth gestational week, the cloacal membrane may overdevelop,
preventing mesenchymal migration between the ectoderm and endoderm.
▪That inhibits normal development of the lower abdominal musculature and
pelvic bones
▪it makes the cloacal membrane unstable and prone to early rupture.
▪The timing and location of rupture of the cloacal membrane dictate the
patient’s presentation along the exstrophy-epispadiasspectrum

9. Etiopathogenesis
▪Epispadias occurs if the rupture produces a division or nonunion at the distal
end of the urinary tract.
▪CBE results if the rupture occurs after the urorectalseptum divides the
gastrointestinal from the genitourinary tracts
▪CE results if the rupture occurs before this separation.

10. Division of the human cloaca
(a) 3.5 mm stage; (b) 4 mm stage; (c) 8 mm stage; (d) 1 mm stage. The asterisks
in (a), (b) and (d) indicate the cloacal septum.

11. ▪failure of one or both of the lateral body wall folds to move far
enough ventrally to meet its counterpart in the midline.
▪Abnormal development of the genital hillocks caudal to the normal
position.
▪There may be involvement of the allantois in the development of
cloacal exstrophy.
▪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

12. Etiopathogenesis (molecular and genetic)
▪p63 is a member of the p53 tumor suppressor family that is highly
expressed in stratified epithelium including the bladder and its
overlying skin. Its expression is decreased in CBE patients.
▪These results led to the recent finding that insertion and deletion
polymorphisms of ΔNp63 lead to the reduced p63 expression that
may cause EEC.

13. Functional Anatomy and Associated
Anomalies
1.Urogenital Anomalies
2.Musculoskeletal Anomalies.
3.Gastrointestinal Abnormalities
4.NeurospinalAbnormalities

14. Urogenital Anomalies
▪the bladder is normal in epispadias, it is exposed anteriorly through the
abdominal wall in both CBE and CE.
▪In most cases the bladder and abdominal wall should be closed soon after birth.
▪if the bladder template is too small (<3 cm), is covered with polyps, or appears
inelastic, primary closure should be delayed.
▪Histologically, the exstrophicbladder appears immature, with fewer myelinated
nerves;
▪there is potential for normal development after a successful initial closure.
▪If the bladder capacity does not increase sufficiently following closure,
augmentation cystoplastymay be needed

15. Urogenital Anomalies
▪when the bladder is excessively fibrotic or is too small orthotopicneobladder
or a continent catheterizablepouch may be needed.
▪The ureters in CBE and CE patients enter the bladder at an abnormal angle
leading to vesicoureteral reflux (VUR) in all patients following bladder closure.
▪If VUR does not lead to upper urinary tract changes, the ureters are
reimplantedinto the bladder at the time of augmentation or bladder neck
reconstruction in staged repair.
▪Common anomalies include ureteropelvic junction obstruction, horseshoe
kidney, and ectopic kidney

16. Urogenital Anomalies
▪Males have a urethral meatus located dorsally between the penopubic angle
and the proximal glans. Distal to its ectopic opening, the urethra is open
dorsally creating a spade-like appearance.
▪the phallus is also shorter and broader often with significant dorsal chordee.
▪Contributing to this foreshortened appearance is the lateral displacement of
the corporal bodies under the pubic bones.
▪In CE, the phallus is typically split completely between the diastaticpubis,
with each half often of unequal size.

17. Urogenital Anomalies
▪In EEC females, the distal aspect of the dorsal urethra remains open, resulting
in a patulous bladder neck.
▪The mons pubis is flattened and displaced laterally while the vagina and
introitusare displaced anteriorly.
▪The bifid clitoris is usually located in the anterior vaginal wall which is
surrounded by divergent labia.
▪The vagina is often short or stenotic.
▪Mulleriananomalies are common in female CE patients and include vaginal or
uterine duplication or sometimes complete agenesis.

18. Musculoskeletal Anomalies
▪the anterior abdominal wall is intact in epispadias,
▪CBE and CE, the bladder and urethra are exposed through a triangular defect
in the lower abdominal wall.
▪The opening extends from the umbilicus to the intrasymphysealband
inferiorly.
▪Umbilical hernias are common but are usually insignificant
▪Indirect inguinal hernias, due to a persistent processusvaginalis, large inguinal
rings, and the relatively straight direction of the inguinal.
▪hernias easily repaired

19. Musculoskeletal Anomalies
▪Patients with EEC often demonstrate diastasis of their pubic rami with
divergent distal rectus abdominis muscles.
▪CBE patients have a mean pubic diastasis of 4.8 cm, external rotation of both
the anterior and posterior segments of the pelvis, 30% shortening of the
anterior pelvis, increased distance between the triradiate cartilage, and
retroversion of the acetabulum.
▪These patients also have wider sacroiliac joint angles, a more inferiorly rotated
pelvis, and a larger sacrum.
▪In CE , more malrotation and asymmetry than in CBE pelves.
▪pelvic deformities cause a waddling gait.

20. The anatomy of the
normal bony pelvis is seen
in transverse view.
Superimposed are the
deviations observed in the
pelvis of classic bladder
exstrophypatients.
In the posterior
segment, each half is
externally rotated 12°.
The acetabulaeare
retroverted, yielding an
increased intertriradiate
distance. In the anterior
segment, each half is
externally rotated 18 °
and is on average 30%
shorter.

21. Musculoskeletal Anomalies
▪the levatoraniin CBE patients has a
larger mean area, is located more
posteriorly to the rectum, and is
externally rotated and flattened resulting
in a “boxlike, open book” pelvis with an
anteriorly positioned bladder.
▪The obturator internus and externus are
outwardly rotated.
▪These lead to incontinence and females
uterine prolapse.

22. Penile and pelvic
measurements in
normal men and
patients with exstrophy
ISD, intersymphyseal
distance;
aCC, corpora cavernosa
subtended angle; Cdiam,
corpus cavernosum
diameter; PCL, posterior
corporeal
length; ICD, intercorporeal
distance; ACL, anterior
corporeal length; TCL,
total corporeal length.

23. Gastrointestinal Abnormalities
▪CBE and CE have an anteriorly displaced anus and anal sphincter. predisposes
exstrophypatients to fecal incontinence.
▪CBE patients occasionally have omphalocele, imperforate anus, rectal
stenosis, and rectal prolapse.
▪CE patients always have:
1)omphalocele,
2)imperforate anus,
3)rudimentary hindgut,
4)malrotation of the bowel,
5)short gut syndrome,

24. NeurospinalAbnormalities
▪7% of CBE patients will have a spinal abnormality such as spina bifida occulta,
scoliosis, and hemivertebrae. Most of the abnormalities are uncomplicated,
but spinal dysraphismmay cause neurologic dysfunction.
▪Nearly all CE patients demonstrate significant neurospinaldeficits including
neural tube defects, vertebral anomalies, spinal myelodysplasia, spinal
dysraphism, and tethered cord.
▪These necessitate neurological evaluation with spinal US and MRI
▪These exacerbate urinary and bowel incontinence, lower extremity
immobility, and erectile dysfunction.

25. Diagnosis
▪The majority of EEC cases are first noted on postnatal exam.
▪CBE and CE can be diagnosed prenatally with fetal transabdominal ultrasound
(US) between the 15
th
and 32
nd
weeks of pregnancy :
1.absence of bladder filling,
2.a low-set umbilicus,
3.widened pubic rami,
4.small genitalia, a lower abdominal mass that increases throughout the
duration of pregnancy
5.the prolapsed ileum in CE patients may look like an “elephant trunk”

26. Evaluation and Management at Birth
▪Inthedeliveryroomtheumbilicalcord
shouldbetiedwith2-0silkclosetothe
abdominalwallsothattheumbilical
clampdoesnottraumatizethedelicate
mucosaandcauseexcoriationofthe
bladdersurface
▪Thebladdercanthenbecoveredwitha
nonadherentfilmofplasticwrapto
preventstickingofthebladdermucosa
toclothingordiapers

27. Goals of reconstruction of EEC
PRINCIPAL OBJECTIVES
▪urinarycontinence
▪volitionalvoiding
▪low-pressureurinestorage
▪preservationofkidneyfunction
▪functionallyand cosmetically
acceptableexternalgenitalia.
SECONDARY OBJECTIVES
▪avoid urinary tract infections (UTIs)
▪reduce risk of urinary calculi
▪minimize the risk for malignancy
associated with the urinary tract
▪integrity of the abdominal wall fascia
▪integrity of the pelvic floor.

28. Male Epispadias Repair
▪Epispadias repair includes correction of dorsal chordee, glanularand urethral
reconstruction, and closure of penile skin.
▪The modern modified Cantwell-Ransleyrepair advances the urethral meatus
to an orthotopicposition utilizing a reverse meatal advancement and
glanuloplastytechnique.
▪The dorsal chordee is released by mobilizing the urethral plate from the
underlying corpora from the level of glans down to the prostatic urethra.
▪The corporal bodies are anastomosed at the dorsal medial aspect over the
tubularized urethra.
▪Older patients may have persistent chordee, in which case a cavernostomy
may be required.

29. Cantwell–Ransleyrepair for epispadias.
(a) The tubularized urethral plate is placed in a dorsal groove incision in the glans
penis. The dotted lines indicate the site of incision for the cavernosa –
cavernosotomies; (b) approximation of the corpora cavernosa and performance of
cavernosalanastomosis; (c) glans closure over urethra and skin closure.

30. complete penile disassembly
▪Mitchell and Baglihave described a further modification of Cantwell-Ransley
repair in which the urethral plate and each corporeal body along with its
hemiglansare dissected completely free from each other.
▪The urethra is then tubularized and placed into an anatomic, ventral position.
▪This “complete penile disassembly” performed at the time of primary bladder
closure, the combination of which is called “complete primary repair of
bladder exstrophy” (CPRE)
▪When performed as part of CPRE, it requires more extensive proximal
mobilization in order to place the bladder deeply into the pelvis

31. Complete penile disassembly technique (Mitchell and Bagli)
✓Lines of initial dissection circumscribing the urethral
plate and bladder neck.
✓dissection of the urethra from the underlying
corporeal bodies.
✓Dotted line indicates the site of distal incision to
free the urethra entirely from the glans
✓Corporeal bodies and two hemiglansare separated
by a longitudinal midline incision
✓The urethra is tubularized and brought to the
ventrum.
✓The corpora are reapproximated dorsally. They will
rotate medially when adequately dissected from
each other

32. ▪Following epispadiasrepair, patients receive yearly gravity cystogramsto
measure bladder capacity.
▪When the patient desires continence (typically 5 to 9 years of age), he will
undergo a continence procedure, such as a Young-Dees-Leadbetterbladder
neck reconstruction (BNR), if the bladder capacity is sufficient.
▪If the bladder template is too small, the patient will instead undergo a
combination of a bladder neck transection, bladder augmentation, and
continent urinary diversion.
▪Female Epispadias Repair :Due to the comparatively shorter urethra, repair
of isolated female epispadiasis generally done along with BNR, monsplasty,
and clitoroplasty

33. Classic Bladder ExstrophyRepair
▪Repair of bladder exstrophybegins with closure of the bladder and abdominal
wall by either:
A.The modern staged repair of exstrophy(MSRE)
B.Complete primary repair for exstrophy(CPRE)
▪There is a debate over the timing of the primary closure with proponents of
early bladder closure (closure during the first 72 hours of life) arguing that
prompt closure allows for earlier bladder cycling, improved bladder
expansion, and decreased risk of precancerous changes.
▪Those delaying bladder closure state that it does not cause metaplastic
changes, can allow for concomitant epispadiasrepair, and increases the
likelihood of postclosurebladder growth in the case of a smaller template

34. Classic Bladder ExstrophyRepair
▪Pelvic osteotomies may be performed at the time of primary closure in order
to deepen their flattened pelvis, close the pubic diastasis, and release tension
on the abdominal wall.
▪Successful primary closure is of utmost importance since it is associated with
decreased overall costs, decreased inflammation and fibrosis of the bladder,
improved bladder growth, and decreased need for urinary diversion

35. The modern staged repair of exstrophy
(MSRE)
A.The first stage is the abdominal wall and bladder closure.
▪Females: genitoplastyand urethroplasty with this first procedure.
▪this stage may be delayed if the bladder template is too small or covered with polyps.
B.The second stage in males is to close the urethral epispadiasat 6 to 12 months .
C.The third stage, a continence procedure such as the Young-Dees-LeadbetterBNR, is
delayed until a bladder with adequate capacity and desires continence (5 and 9
years of age).
▪This stage is combined with ureteral reimplantationto repair VUR.
▪Children who are not candidates for BNR or who fail to achieve urinary continence
after the procedure may require bladder neck transection, AC, and continent
catheterizablestoma.

36. initial bladder closure in a staged repair for bladder exstrophyin the male patient.
(1)completion of dissection around the bladder and urethral plate;
(2)placement of a suprapubic drainage tube after corporeal reapproximation;
(3)Tubularization of the urethral plate over the catheter;
(4)following two-layer closure of the bladder and urethral plate, the bladder is reduced
in the pelvis and fixed with sutures;
(5)drainage tubes are brought out superiorly and the fascia, subcutaneous tissue, and
skin are reapproximated.

37. Principles of the Young–Dees–Leadbetterprocedure.
▪This is performed as the third stage of a staged reconstructive approach to exstrophy.
The ureters are reimplantedas shown here to prevent vesicoureteral reflux and move
them out of the area of the bladder neck reconstruction.
▪The base of the bladder is reconstructed to lengthen the urethra and reinforce the
bladder neck.

38. Complete primary repair for exstrophy
(CPRE)
▪combines primary abdominal wall and bladder closure with epispadiasrepair
and partial tightening of the bladder neck.
▪bilateral ureteral reimplantationcansafely be done during this surgery to
reduce the risk of future febrile urinary tract infection and hydronephrosis
▪this technique may decrease costs, decrease the morbidity associated with
multiple operations, and stimulate early bladder growth.
▪The epispadiasrepair is done by “penile disassembly,” where the urethral
plate is fully dissected from the corporal bodies.
▪many children still require surgery for resulting hypospadias, persistent
vesicoureteral reflux, incontinence, or failed primary closure

39. ▪Initial lines of dissection for male complete primary exstrophyrepair technique –
ventral perspective.
▪Initial lines of dissection for male complete primary exstrophyrepair –dorsal
perspective. Lines at the bladder neck indicate approximate tailoring that may be
needed to exclude dysplastic tissue in this area.

40. Disassembly of the urethral wedge
(urethral plate with underlying corpora
spongiosa) from corporeal bodies. The
plane of dissection should remain on
the corporeal bodies to allow the
corpora spongiosato remain with the
urethra.
Distal separation of the corporeal bodies
and urethral wedge. This maneuver may
not always be required. Complete
separation allows maximal exposure to the
pelvis and optimizes the dissection and
posterior positioning of the bladder,
bladder neck, and urethra in the pelvis.

41. Division of the intersymphysealband
(condensation of anterior pelvic fascia)
and deep pelvic
dissection. The inset demonstrates
division of the
intersymphysealband. Division of this
band allows
posterior placement of the bladder
without tension.

42. This cross section represents an idealized positioning of the
urethra and bladder neck in the pelvis.

43. The bladder and urethra are closed in
two layers using absorbable suture. The
ureteral
catheters are brought out throughtthe
urethral closure.
The suprapubic tube may be brought out
through the
umbilicus.

44. Pelvic Osteotomies and Immobilization
▪in patients who no longer have a malleable pelvis, (after 72 hours of age).
▪they increase surgery time and risk for postoperative complications.
▪They improve success of primary closure
▪A combination of bilateral anterior transverse innominate and vertical
posterior iliac osteotomies.
▪At the time of osteotomy, fixator pins and external fixation devices can be
placed and left for 4 to 6 weeks as the patient is immobilized .

45. Osteotomy sites for
combined vertical
iliac and transverse
innominate
osteotomies
showing the
placement of intra
fragmentary pins

46. ▪Modified Buck’s traction exerts pull longitudinally on the lower extremities
and is used after osteotomy.
▪Modified Bryant’s traction, where the hips are placed into 90 degrees of
flexion, may be used if there is no osteotomy.
▪Spica casts also immobilize the pelvis without the need for external fixators or
traction

48. Bladder Augmentation
▪After having failed one attempted CBE closure, the chance of achieving
adequate bladder capacity for a BNR and continent urethral voiding, decreases
to 60% .
▪A bladder that is noncompliant or of insufficient capacity may undergo AC.
▪Common techniques utilize segments of bowel, stomach, or redundant ureter
to expand the bladder wall.
▪Continent Urinary Diversion. required when a patient undergoes AC.
▪A segment of appendix or ileum may be utilized to connect the bladder to the
skin and provide a continent stoma through which to perform CIC

49. Modern Functional Reconstruction of
Cloacal Exstrophy
▪Immediate Neonatal Assessmentand 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

50. 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

51. ▪Anti-Incontinence/Reflux Procedure (age 5 yr)
✓Bladder capacity ≥ 85 mL (small select group of patients)
✓Young-Dees-Leadbetterbladder 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 fullthicknessskin graft

52. LONG-TERM ISSUES IN CLOACAL 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.