Bladder exstrophy associated with complete urethral duplication: A rare malformation with excellent prognosis

BLADDER EXSTROPHY ASSOCIATED WITH COMPLETE URETHRAL DUPLICATION: A RARE MALFORMATION WITH EXCELLENT

PROGNOSIS

J. L. PIPPI SALLE, H. SIBAI, A. I. JACOBSON, M. FEHRI, A. BRZEZINSKI AND Y. L. HOMSY

From the Divisions of Pediatric Urology, Casablanca Children’s Hospital, IbnRochd University Health Center, Casablanca, Morocco, and Montreal Children’s Hospital, McGill University Health Center, Montreal, Canada

ABSTRACT

Purpose: We report the association of complete urethral duplication and bladder exstrophy in 5 males, and describe the main characteristics to achieve diagnosis.

Materials and Methods: From 1983 to 2000, 5 males with single bladder exstrophy and complete urethral duplication were seen at 3 institutions. Although bladder exstrophy was obvious at birth, only 1 patient had the preoperative diagnosis of associated urethral duplication.

All patients were evaluated with abdominal ultrasound, voiding cystourethrogram after bladder closure and cystoscopy.

Results: All patients were totally incontinent, including 4 after primary bladder exstrophy closure. Although it was initially unnoticed by the urologist, most patients had leakage from the tip of the penis during the Valsalva maneuver. In all cases bladder exstrophy was single and deeply situated in the pelvis with excellent elasticity. All patients had a normal sized penis with less severe dorsal chordee and conical shaped glans. The duplicate epispadiac urethra did not have a verumontanum. Only 1 of the 5 patients had the correct diagnosis made before primary closure of bladder exstrophy, while in the other 4 diagnosis of a duplicate ventral urethra was made at the time of epispadias or fistula repair. There were no other associated malformations.

In all cases the dorsal epispadiac urethral plate was excised and bladder emptying occurred through the ventral urethra, which at cystoscopy had a normal verumontanum. Postoperatively, all patients became continent and voided with good flow through the ventral urethra and, as opposed to many cases of exstrophy and epispadias, had normal size and excellent cosmesis of the penis.

Conclusions: Complete urethral duplication is a rare variant of the exstrophy-epispadias complex. Patients with this anomaly present with a larger and more deeply situated bladder plate than classical exstrophy and a larger penis. A high index of suspicion is necessary to make a preoperative diagnosis. Excision of the dorsal urethral plate and maintenance of the ventral urethra are the treatment of choice, resulting in a continence and normal voiding.

K EY W ORDS : urethra, bladder exstrophy, abnormalities Bladder exstrophy is a rare malformation with a higher

incidence in males. In cases of classic exstrophy the bladder and urethra are completely opened anteriorly in direct com- munication with the abdominal wall, there is lateral dis- placement of the rectus muscles and diastasis of the pubis, and the upper urinary tract is usually normal. Once the bladder is closed most patients have vesicoureteral reflux.

Inguinal hernia and cryptorchidism are common associated anomalies.

Urethral duplication is also a rare congenital anomaly, with less than 200 cases reported in the literature. The duplicate urethra may be complete, incomplete or even abortive. Urethral duplication most commonly occurs in the sagittal plane. The ventral urethra is usually more functional and contains the sphincteric mechanism as well as the verumontanum.

Epispadiac duplications can be associated with widening of the symphysis pubis and a deficient bladder neck, suggestive of an embryological re- lationship to the exstrophy-epispadias complex.

How- ever, the association between urethral duplication and complete bladder exstrophy is rare, with only 2 cases pre- viously reported.

We report our experience with 5 cases of bladder exstrophy associated with complete urethral duplication.

MATERIALS AND METHODS

The medical records of 5 patients with complete urethral duplication and single bladder exstrophy treated between 1983 and 2000 were reviewed. All patients were males, 4 were white and 1 was Asian. None had a family history of urethral duplication or epispadias-exstrophy malformations.

Four patients were diagnosed and treated at a single insti- tution. These patients, who had originally been diagnosed with only bladder exstrophy, underwent bladder exstrophy closure and epispadias repair elsewhere and, subsequently, presented to our center for repair of urethrocutaneous fistula and treatment of bladder calculi. Further investigations re- vealed concurrent urethral duplication. Presentation, inves- tigations, treatment and results were analyzed and com- pared to the currently available published data.

CASE HISTORIES

Case 1. A 6-month-old infant presented for staged closure of bladder exstrophy. Physical examination revealed an ex- strophic bladder deeply situated in the pelvis and a penis of normal length with mild dorsal chordee. No verumontanum was seen in the epispadiac urethra (part A of figure), and the glans had a more conical shape contrary to the flat epispadiac

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glans seen in classic exstrophy. No umbilicus was seen in the mid abdomen.

He underwent primary closure of the bladder and chordee correction with rotation of Byars flaps. Although no urethro- plasty was performed initially, postoperative voiding cys- tourethrography delineated a normal ventral urethra, which was misinterpreted as contrast extravasation, and grade 2 vesicoureteral reflux (part B of figure).

At age 18 months he presented for epispadias repair. With the patient under general anesthesia an involuntary Val- salva maneuver provoked voiding from the tip of the penis.

An apical meatus was noted and an 8Fr catheter was passed easily into the bladder (part C of figure). Cystoscopy revealed a normal ventral urethra, which contained the verumonta- num. The dorsal urethral plate was excised, the bladder neck was closed and the chordee was corrected. The postoperative course was complicated by a penopubic vesicocutaneous fis- tula, which was later closed successfully. At followup the patient is voiding normally, and has a good cosmetic penis of normal length and good bladder capacity with complete con- tinence. The vesicoureteral reflux resolved.

Case 2. A 2-year-old boy underwent closure of exstrophy and epispadias repair in 1 stage. Postoperatively a large urethrocutaneous fistula and bladder stones developed, and he presented at age 5 years to the Montreal Children’s Hos- pital for further therapy. Physical examination revealed a lower abdominal wall defect, no umbilicus and a straight

penis of normal length. The distal urethroplasty had de- hisced, the glans was conical shaped and the left testis was nonpalpable. Voiding cystourethrography revealed a normal ventral urethra with verumontanum, urethrocutaneous fis- tula and left grade 1 vesicoureteral reflux. However, the diagnosis of duplicate urethra was not made.

At the time of cystolithotomy an apical meatus was noted and urethroscopy after catheterization revealed a normal ventral urethra which contained the verumontanum. Later the patient underwent left orchiopexy, repair of the abdom- inal wall defect and excision of the dorsal urethra. At 17- month followup he is voiding normally, and has good bladder capacity and a normal penis. Grade 1 vesicoureteral reflux persists.

Case 3. A 1-year-old boy born with bladder exstrophy and a right inguinal hernia underwent bladder exstrophy. A post- operative cystogram performed through the suprapubic cath- eter revealed left grade 4 vesicoureteral reflux and a hypo- plastic ventral urethra which was not diagnosed.

Postoperative course was complicated by recurrent urinary tract infections and bladder neck stenosis which required repeated dilations. At age 6 years, during a difficult dilation, drips of urine were noted at the tip of the penis. A pinpoint apical meatus was found and a 3.5Fr catheter was passed into the bladder. The ventral urethra was gradually and progressively dilated. Urethroscopy revealed posterior ure- thral stenosis and an otherwise normal ventral urethra. The

Case 1. A, epispadiac urethra without verumontanum and conical shaped glans preoperatively. Exstrophic bladder is deeply situated in pelvis and bulges during Valsalva maneuver. B, cystogram after primary closure of bladder exstrophy. Normal ventral urethra with verumontanum was misinterpreted and diagnosis of duplication was missed. C, penis immediately before stage 2 repair of epispadias. Apical meatus was found and accepted catheterization with number 8Fr catheter. Vesicocutaneous fistula is seen in penopubic area.

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patient underwent internal urethrotomy followed by urethral dilations. At followup at age 14 years he is voiding normally, and has good bladder capacity and good cosmetic penis of normal length. Left vesicoureteral reflux persists and the left kidney contributes only 20% to total renal function.

Case 4. A 3-year-old boy born to consanguineous parents presented with bladder exstrophy. He had a lower abdominal wall defect, no umbilicus, exstrophic bladder plate deeply situated in the pelvis, a penis of normal length with mild dorsal chordee, a conical shaped glans and bilateral inguinal cryptorchidism. Careful inspection revealed an apical ure- thral meatus that was easily catheterized. Urethroscopy con- firmed a normal ventral urethra with verumontanum. The patient underwent bladder closure with excision of the dorsal urethral plate. Postoperative voiding cystourethrography re- vealed a normal ventral urethra and good bladder capacity, with grade 1 left vesicoureteral reflux. At 1-year followup he is continent and voids normally. He recently underwent ex- cision of dorsal penile fibrosis and has a good cosmetic penis of normal length.

Case 5. A 39-year-old man with bladder exstrophy, who underwent closure and iliac osteotomy repair elsewhere, was referred to us for repair of a vesicocutaneous fistula in the suprapubic area after multiple failed attempts at closure.

Despite that he wore diapers, the patient was married and fathered 2 children. He admitted that he was able to void with adequate stream from the tip of the penis.

On examination the penis had a good cosmetic appearance and no dorsal chordee, and the glans had a conical shape with a dorsal cleft due to previous dehisced urethroplasty. In the lower abdomen there was a large fistula in a scarred area, which was constantly dripping urine. There was no umbilicus.

A “fistulogram” revealed a large pocket of urine anterior to the bladder containing several calculi. Cystography dem- onstrated a normal capacity bladder, no vesicoureteral reflux and a normal ventral urethra. Cystoscopy showed a normal ventrally located urethra with verumontanum. The fistula and perivesical pockets containing stones were removed, the fistula was closed and the bladder was drained with a 14Fr Foley urethral catheter placed through the ventral urethra.

DISCUSSION

Bladder exstrophy is a complex urogenital malformation which occurs in 1/30,000 live newborns.

Variants of bladder exstrophy represent approximately 8% of cases,

and associated duplications of the lower urinary tract are rare, with only 25 cases of duplicate bladder exstrophy reported in the English literature. These cases most commonly consist of a nonfunc- tional suprapubic exstrophic mucosal plate and a posterior cov- ered bladder which receives the ureters and communicates with a ventral urethra.

Two cases of collateral bladder duplication with an exstrophic bladder have been reported.

In both cases a closed bladder was found lateral to the exstrophic bladder with each receiving the ipsilateral ureter, and 1 case was asso- ciated with penile duplication.

Association of single complete bladder exstrophy with ure- thral duplication also is rare, with only 2 cases of complete urethral duplication in conjunction with bladder exstrophy in males previously described.

As in our cases, good bladder capacity and a well developed phallus were noted, and con- tinence was achieved with excision of the dorsal urethral plate without a continence procedure. Schulze et al reported another case of total bladder exstrophy with urethral dupli- cation.

However, urethral duplication was incomplete with a blind-ending ventral accessory urethra. The proximal dorsal epispadias was closed as a tube and anastomosed to the accessory ventral blind-ending urethra. The authors state that the patient had an excellent cosmetic and functional result but make no comments regarding continence.

Embryologically, epispadiac urethral duplication has been

postulated to be related to the exstrophy-epispadias complex.

Rabinovitch proposed that in cases of epispadiac urethral duplication a secondary urorectal septum extends distally, producing an accessory urethral groove dorsal to the corpora cavernosa.

Effmann et al believe that since epispadias and epispadiac urethral duplication have similar anatomy, they are likely variants of the same embryological origin.

Epis- padias is thought to be caused by failure of midline mesoder- mal fusion of the phallic portion of the urogenital sinus. If simultaneously a second urethral plate develops from the urogenital membrane, a normal ventral urethra will develop as well.

There is also controversy about duplicate exstrophic blad- ders. Marshall and Muecke consider it part of a spectrum of superior vesical fissures in which the underlying fissure has fused leaving a normal posterior bladder and an overlying blad- der mucosal plate.

Others suggest that an aberrant bladder and urethra originate in addition to the normal bladder and urethra.

Subsequently, the development of the aberrant blad- der and urethra fails and they persist as fibrous structures.

These fibrous structures might impair the development of the infraumbilical wall, resulting in the musculoskeletal deformi- ties of the exstrophy complex.

The preoperative diagnosis of a duplicate urethra was missed in 1 of the 2 previously reported cases of complete urethral duplication associated with bladder exstrophy.

As in 4 of our 5 cases the ventral urethra was unrecognized at the time of bladder closure. However, we found that this variant of bladder exstrophy has certain characteristics which, when compared to classic exstrophy, may allow for early diagnosis. The phallus is relatively well developed with less dorsal curvature and a conical shaped glans, contrary to cases of classic exstrophy in which the glans is flat and opened. The bladder plate is deeply situated in the pelvis and appears less everted. The epispadiac urethra does not contain the verumon- tanum, which is usually seen in classic exstrophy. Based on these findings, we could recognize the existence of a ventral normal urethra in 1 of our cases, making surgical correction easier. For all of our patients simple excision of the dorsal urethral plate and closure of the bladder neck were sufficient to achieve a good cosmetic and functional result, with no need to perform a procedure to avoid incontinence.

One could argue that these cases may have been better classified as severe duplicate penopubic epispadias rather than bladder exstrophy with complete urethral duplication.

However, all of our cases had absence of an umbilicus in the mid abdominal area, which is consistent with exstrophy and not with epispadias, which has a normal located umbilicus.

Moreover, the usual management of penopubic incontinent epispadias includes use of the dorsal epispadiac urethra for tubularization as well as some form of bladder neck recon- struction to achieve continence. As illustrated in our cases with the additional diagnosis of a duplicate urethra, no mat- ter what terminology is used, complete continence as well as a much better cosmetic penis can be achieved if the urethral plate is excised and the bladder simply closed. The normally located ventral urethra also always contained the verumon- tanum and, therefore, normal ejaculation can be anticipated, which was confirmed by our patient who fathered 2 children by ejaculating through the duplicate ventral urethra. Some could consider the association of bladder exstrophy with ure- thral duplication a variant of superior vesical fissure or vari- ant of the exstrophy complex. These variants are more com- mon in females and when they occur in males the penis is usually normal without epispadias.

Others report favorable prognosis in patients with exstrophy associated with dupli- cation.

Most likely the achievement of continence is related to a larger bladder plate, which results in adequate bladder capacity, and to the existence of a normal ventral urethra, which is associated with a competent urinary sphincteric mechanism.

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CONCLUSIONS

Bladder exstrophy associated with complete urethral dupli- cation is a rare malformation which portends an excellent prognosis. A high index of suspicion is necessary to make a preoperative diagnosis. Excision of the dorsal urethral plate with maintenance of the ventral urethra is the treatment of choice resulting in continence and normal voiding.

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