Cause: Embryologic maldevelopment

Epidem: There are 3.3 cases in 100,000 live births ( Tetralogy 1987; 36:221). Male:female ratio: 2.3:1 to 6:1 (Tetralogy 1987;36:221; J Urol 1982;127:974). Risk of recurrence of bladder exstrophy in a given family is 1 in 100 (J Med Genet 1980;17:139). Risk of bladder exstrophy in offspring of individual with bladder exstrophy and epispadias is 1 in 70 live births (J Urol 1984;132:308).

Pathophys: May occur secondary to abnormal overdevelopment of cloacal membrane, preventing medial migration of mesenchymal tissue and proper lower abdominal wall development (J Urol 1964;92:659). Timing of rupture of cloacal membrane determines the variant of the exstrophy-epispadias complex that results. Other proposed etiologies exist.

Cmplc: Associated with defects of abdominal wall, genitalia, rectum, or anus. Anus is displaced anteriorly. Umbilical hernia usually present. There is a 6.7% incidence of congenital vertebral malformations (BJU 1997;79:975). Inguinal hernias common. Penile abnormalities: epispadias (urethral meatus present on dorsal surface of penis, typically at penopubic junction), chordee, short urethral groove, shorter anterior corporal cavernosal length.

Female genital anomalies: short urethra and vagina, bifid clitoris, divergent labia and mons pubis. Vaginal orifice may be stenotic, displaced anteriorly. Vesicoureteral reflux (VUR) present in nearly 100% of closed bladder exstrophies.

Sx: Often asx

Si: Bladder visible on anterior abdominal wall, widened symphysis pubis, genital anomalies, inguinal hernias common

Cmplc: Wound dehiscence, small functional bladder capacity, persistent incontinence, short penile length (J Urol 1997;157:999). Increased risk (400 X) of adenocarcinoma of the bladder in pts with bladder exstrophy (J Urol 1970;104:699). In bladder exstrophy pts who become pregnant, there is increased risk of cervical and uterine prolapse (J Urol 1978;119:478). Genital anomalies and number of surgical procedures performed may affect quality of life and interactions with others (J Urol 1999;162:2125). Rx with latex precautions, given the number of surgical procedures pts typically have.

Xray: KUB demonstrates widened symphysis pubis secondary to outward rotation of innominate bones. Prenatal US: five factors associated with bladder exstrophy: (1) bladder never visualized, (2) lower abdominal bulge representing exstrophied bladder, (3) small penis with anteriorly placed scrotum, (4) low-set umbilical insertion, and (5) abnormal widening of iliac crests (Obstet Gynecol 1995;85:961).

Rx: Stabilization of infant. Umbilical cord should be tied close to abdominal wall to avoid irritation of the bladder mucosa. Cover exposed bladder mucosa with nonadherent film of wrap to prevent mucosa from sticking to diapers. Irrigate mucosa to keep it moist. Parental reassurance. Transfer to tertiary care center. Objectives of surgical repair: (1) abdominal wall closure, (2) urinary continence, (3) preservation of renal function, (4) reconstruction of functional and cosmetically acceptable penis in the male and external genitalia in female. Surgical repair may be achieved
in a staged repair in which bladder and anterior abdominal wall are closed. Inguinal hernias usually treated at this time (BJU 1994;73:308). Some perform epispadias repair at time of bladder closure (J Urol 1996;155:300). Epispadias (if not already treated), continence-promoting procedures, and ureteral reimplantation are performed at separate intervals. Umbilical reconstruction may also be performed (J Urol 1994;151:453).

Cause: Congenital anomaly; most severe form of imperforate anus with confluence of rectum, vagina, and bladder in a urogenital sinus (J Urol 1998;228:331)

Epidem: Wide spectrum of malformations; occurs in 1 in 500,000 births (J Urol 1988;228:331); persistent cloaca occurs in females only; cloacal exstrophy in 1 in 250,000 births.

Pathophys: Associated gu anomalies: vaginal duplication, vaginal agenesis, VUR

Si: Abnormal-appearing perineum varying from single orifice obscured by clitoris and labia to nearly nl-appearing perineum; confluence of gi, gu, and GYN tracts may be high or low; abdominal distention; genitalia may appear ambiguous.

Xray: KUB: large fluid-filled structure in lower abdomen, often distended vagina(s) filled with urine; US to assess upper tracts. Sinogram to identify anatomy of urogenital sinus and relationship to bladder neck, vagina, and rectal fistula. MRI LS spine to r/o tethered cord.

Rx: Decompressive colostomy, if vagina distended and causing bladder outlet obstruction (BOO), start clean intermittent catheterization (CIC); rarely if CIC not successful then vesicostomy or tube vaginostomy. Endoscopic evaluation; definitive repair 6-24 mo of age (J Urol 1998;228:331).

Cause: Most plausible etiology is that the primary defect involves intermediate and lateral mesoderm during fetal development (J Urol 1994;152:2328). Other proposed etiologies: primary urinary tract anomaly that causes bladder and ureteral dilation, which results in abdominal wall laxity; urethral obstruction early in development, which leads to urinary tract dilation and abdominal wall anomalies and recanalizes prior to birth (Pediatrics 1984;73:470); abnormality of yolk sac.

Epidem: Males more than females. Incidence is 1 per 35,000-50,000 live births (Am J Hum Genet 1981;33;470). May be detected as early as 15 wk of gestation.

Pathophys: Triad of deficiency of abdominal wall musculature, bilateral undescended testicles (UDTs) that are usually intra-abdominal, and abnormalities of urinary tract, including dilated ureters, bladder enlargement, dilated prostatic urethra, and renal dysmorphism. Associated abnormalities include megalourethra, orthopedic, gi, respiratory, and CV abnormalities (J Urol 1985;133:607; J Natl Med Assoc 1973;65;327).

Sx: Usually asx unless child develops UTI

Si: Abdominal wall laxity and UDTs; often nonpalpable

Crs: Early death in those with severe pulmonary hypoplasia. About 30% of survivors develop renal failure during childhood and adolescence (J Urol 1991;145:1017; 1987;137:86).

Cmplc: Infertility. As of 1998, no reports of a male with prune belly syndrome who has sperm in his urine or semen (J Urol 1998;159:1680).

Diff Dx: Posterior urethral valves, urethral atresia, high-grade VUR

Lab: Serum electrolytes, BUN, creatinine levels should be followed closely after birth.

Xray: Renal US to assess degree of pelvicaliectasis, renal parenchyma, and ureteral dilation. Typical VCUG findings include enlarged smooth-walled bladder, high-grade VUR, wide open bladder neck, dilated posterior urethra.

Rx: At birth, institute prophylactic antibiotics, follow renal function closely, and obtain a renal US. Hold off instrumentation early in life due to risk of infection. VCUG should be obtained later in life. Orchidopexy also indicated. Abdominal wall plasty improves appearance, decreases psychological effects, and may improve bladder and pulmonary function (J Urol 1998;159:1675). Reimplantation indicated if child develops recurrent UTI.

Cause: Unknown. Folate deficiency a risk factor (BMJ 1981; 282: 1509).

Epidem: Occurs in 1 in 1000 births in United States (Pediatrics 1982;69:511); incidence decreasing. If present in one family member, 2-5% risk of sibling being affected (Rehab Lit 1981; 42: 143). Most occur at lumbar vertebrae, followed by sacral, majority extend posteriorly. About 85% have an Arnold-Chiari malformation: cerebellar tonsils herniating through foramen magnum, obstructing 4th ventricle.