Exstrophy Epispadias complex - clinical presentation

1. EXSTROPHY-EPISPADIAS COMPLEX
- Dr ABHISHEK PANDEY

2. EXSTROPHY-EPISPADIAS COMPLEX
Superior Vesical Fissure
Cloacal Exstrophy
Disease Spectrum

3. Classic Bladder Exstrophy
Male Epispadias
Female Epispadias

4. Epidemiology
• Incidence – 2.2 per 100,000 live births
• M : F = 2.3 : 1
• Risk in offspring of patients – 1 in 70 live births (500
times greater risk)
• Associated anomalies in families – Mid-line defects –
– Neural Tube defects
– Cleft lip & Cleft palate

5. Risk Factors
• Maternal Age – mean 34y
• Maternal 1st trimester Smoking
• Progesterone (large dose) in 1st trimester
• IVF – 7-10 fold increased risk
• Genetic – CASPR3 gene on Chr.-9, Desmin, p63
• Familial – risk of recurrence in a family → 1 in 100

6. EMBRYOLOGY
• Error (not arrest) in embryogenesis of cloacal membrane
1. Cloacal membrane (CM)– bilaminar layer at caudal end
2. Mesenchymal Ingrowth – infraumbilical abdominal wall
muscles & pelvic bones
3. Urorectal Septum – divided cloaca into UGS & Rectum
4. Genital Tubercles – Medial migration & cephalad fusion
• Failure of mesodermal ingrowth of cloacal membrane

8. THEORIES
• Marshall & Muecke (1968) – Abnormal overdevelopment
of CM during 4th week of gestation → prevents medial
migration of mesenchymal tissue
• Failure of lateral body wall fold to meet in midline
• Abnormal fusion of genital hillocks, caudal to CM
• Abnormal caudal insertion of body stalk → failure of
mesenchymal interposition in midline

9. Classic Bladder Exstrophy (CBE)
• Spectrum of anomalies involving –
1. Musculoskeletal defects –
 Skeletal
 Pelvic Floor
 Abdominal wall
2. Urinary defects
3. Genital defects
4. Anorectal defects

10. Skeletal Defects
Dimensional Anomalies
 Increased Pubic Diastasis – mean 5cm
 Shortened anterior pubic segment – 30%
 Increased Inter-triradiate cartilage distance – 30%
Rotational Anomalies
 18° external rotation of anterior pelvic segment
 12° external rotation of posterior pelvic segment
 Acetabular & Femoral retroversion

11. Rotational Anomalies
 10° Coronal rotation of the Sacroiliac joints
 15° Inferior rotation of the bony pelvis
 Rotational anomalies → Short, Pendular Penis
Waddling Gait

12. Pelvic Floor Defects
• Levator ani muscles
– Posterior displacement – 70% behind rectum (normal 50%)
– 15° outward rotation & 30° more flattened
– No decrease in length / thickness of muscles

13. Abdominal Wall Defects
• Triangular defect from umbilicus to intrasymphysael
band, occupied by exstrophied bladder & post. urethra
• Anterior Rectus Sheath fans behind bladder neck &
inserts on intrasymphysael band
• Umbilicus lower
• Indirect Inguinal hernia – M(80%) > F(10%)
• Umbilical hernia (small); Omphalocele (rare)

14. Anorectal Defects
• Anus displaced anteriorly.
• Colorectal anomalies – 1.8% incidence
– Imperforate Anus – most common
– Rectal Stenosis
– Rectal Prolapse
• Divergent levator ani & puborectalis –
– Anal Incontinence
– Rectal Prolapse

15. Male Genital Defects
• Anterior corporeal length 50% shorter
• 30% greater diameter of anterior coporeal segment
• Prostate not circumferentially around urethra –
Urethra anterior to prostate
• Vas, ED, Seminal vesicles – normal
• Flat, wide scrotum
• Undescended testes

18. Female Genital Defects
• Vagina shorter, but of normal caliber
• Vaginal orifice stenotic & displaced anteriorly
• Labia, mons pubis, & clitoris are divergent

19. Urinary Defects
• No e/o bladder muscle dysinnervation – potential for
normal development after closure
• Bladder polyps – Fibrotic or Edematous – associated
with squamous metaplasia in 50%
• Cystitis glandularis – Risk of Adenocarcinoma (8% in
augmented bladders)
• VUR in 100% closed exstrophy – altered course of
distal ureter with loss of oblique entry

20. Variant Anatomy
• Pseudoexstrophy – classic musculoskeletal defects
with no major urinary defect
• Superior Vesical Fissure – CM rupture in upper part
• Covered Exstrophy – Split-symphysis variant – may
contain sequestered ectopic bowel segment
• Duplicate Exstrophy – Antero-posterior bladder
duplication → one bladder exstrophied & one inside.

21. Covered Exstrophy
Duplicate Exstrophy

22. Prenatal USG
• 25% detected prenatally
1. Absence of bladder filling
2. Low-set umbilicus
3. Widening pubis ramus
4. Diminutive genitalia
5. Lower abdominal mass(viscera)
gradually increasing in size

23. EPISPADIAS
• Rare as an isolated anomaly
• M (1 in Lakh) > F (1 in 5 Lakh)
1. Complete/Penopubic/Subsymphyseal – 70% case
 Incontinence
 Deficient UV junction – VUR
2. Penile
3. Glanular
• Short pendular penis with dorsal chordee

24. Male Complete Epispadias
Female Complete Epispadias

25. Female Epispadias – DAVIS classification
Normal
Anatomy
Vesicular
Epispadias
Subsymphyseal
Epispadias
Retrosymphyseal
/Complete
Epispadias

26. CLOACAL EXSTROPHY
• Primarily anterior abdominal wall defect
• Incidence – 1 in 2-4 Lakh M : F = 1 : 1
• Mostly sporadic
• OEIS complex –
– Omphalocele
– Exstrophy
– Imperforate anus
– Spinal defects

27. Anatomy
• Bladder Exstrophy – two Hemibladders
• Terminal Ileal exstrophy between two hemibladders
• Complete Phallic
separation
• Rudimentary hindgut
• Imperforate Anus
• Omphalocele

28. Neurospinal & Skeletal defects
• Spinal cord/Vertebral column abnormality – 85-100%
• Lumbar Myelodysplasia – 80%
• Embryological basis – disruption of dorsal mesenchymal
tissue [NOT failure of neural tube closure]
• Pelvic plexus more medial, more prone to damage
• Pelvic defects more accentuated
• Vertebral & lower limb skeletal abnormalities

29. Genitourinary defects
• Uterine duplication (95%) > Vaginal duplication (65%)
> Vaginal agenesis (25-50%)
• Upper urinary tract anomalies – 40-60%
– m/c Pelvic kidney & Renal agenesis (in 1/3rd cases)
– HUN in 1/3rd cases
• Complete Phallic / Clitoral separation
• Two exstrophied hemibladders
• UDT & Inguinal hernias

30. Gastrointestinal tract defects
• Omphalocele – 90-100%
– Immediate closure to prevent rupture
• 45% associated GIT anomalies
– Malrotation
– Duplication anomalies
– Short gut syndrome – 25%

31. Thank You