Background

Bladder exstrophy-epispadias complex (BEEC) is a rare congenital malformation characterized by a spectrum of anatomical anomalies involving the ventral body wall, urinary tract, genitalia, pelvic organs, bony pelvis, and the muscles of the pelvic floor. The first reported repair was performed by Trendelenburg over 100 years ago.

The goals of the management of individuals with BEEC is to provide a competent reservoir (bladder) for storage of urine, prevent upper tract damage, and to provide cosmetically acceptable genitalia that permit good functional outcomes in terms of continence, sexuality, and fertility. Additionally we have to address any psychological issues that can impact their mental wellness. These goals can be collectively summed up by the Latin phrase “cura personalis,” care of the whole person (see Figure).

Figure. This diagram represents the long-term objectives of care for all patients with bladder exstrophy-epispadias complex (BEEC), the ultimate goal being to enable all individuals born with BEEC to live their life to their fullest potential. GYN indicates gynecologic.

Epidemiology

Based on the incidence of 3.3 cases per 100,000 live births (male-to-female ratio 2:1), it is estimated that there will be approximately 120 children born with BEEC each year in the U.S. This number does not take into account the number of prenatally diagnosed fetuses with bladder exstrophy that are medically terminated. BEEC is less prevalent among the non-White race, high or low socioeconomic status, and Western geographic region. Some studies have demonstrated an association with maternal smoking and irradiation in the first trimester.

Physical Exam

The diagnosis of BEEC is based on the clinical exam of the baby and is usually made by the obstetrician, soon after delivery in the majority of cases. The baby will present with an infraumbilical defect of the anterior abdominal wall; the bladder plate protrudes through this defect and functions as part of the abdominal wall. The ureteric orifices are often visible and can be seen to be effluxing urine.

In females, the bladder plate continues as a short urethral plate that passes between the bifid clitoris. The vaginal introitus is ventrally displaced with the vagina being more horizontally oriented. In classic BEEC, uterine and vaginal duplications are uncommon, as opposed to cases of cloacal exstrophy, where these variants are much more common.

In males, the bladder plate continues as a urethral plate on the dorsum of the phallus. The phallus is short with dorsal chordee and a flat glans with divergent corpora due to the pubic diastasis. The scrotum is separated from the base of the phallus by a skin bridge. The testes are usually descended and often there are bilateral inguinal hernias present.

Children with BEEC will have a ventrally displaced anus due to abnormalities of the pelvic floor muscles resulting from the pubic diastasis and open book pelvis.

Preoperative Care of the Exposed Bladder

We recommend a protective covering over the bladder plate with a nonadherent film (Saran wrap) or Tegaderm. This prevents trauma by the diaper and reduces the formation of polyps. Additionally, if a plastic clamp was used to occlude the umbilical cord, we recommend removing this and using silk ties to occlude the cord; this prevents damage to the exposed bladder plate.

These patients should then be transferred to a children’s hospital for ongoing care by pediatric specialists.¹

Evaluation

The diagnosis of BEEC is based on the clinical exam. Baseline assessment of complete blood count and renal function is recommended. An x-ray of kidney-ureter-bladder and/or pelvic x-rays to assess the pelvic anatomy and determine the pubic diastasis as well as a renal ultrasound are recommended imaging studies. The incidence of spinal abnormalities in BEEC is not significant as opposed to the increased incidence in cloacal exstrophy, and so routine spinal imaging is not indicated unless indicated by an abnormal sacral exam.

The surgical treatment of BEEC is aimed at restoring the normal anatomy, functionality, and cosmesis of the involved structures. Gone are the days of surgical management being deemed an emergency that had to be performed within 24 hours of birth. This philosophy was predicated on the belief that neonatal levels of a hormone, relaxin, would avoid the need for osteotomies. We now know that there are no measureable levels of this hormone in the neonate.

We now recommend an elective closure be performed to permit the bonding of the child with their family, optimize the nutrition of the infant, and potentially allow the male infants to go through the “mini-puberty” at 3 months if a combined primary repair of BEEC is being contemplated to allow for improved healing. The additional benefit of the elective repair of BEEC is that it allows for the development of a dedicated team to be involved in the care of these patients with improved clinical outcomes as they gain more experience caring for children with BEEC and working with each other.

There are a number of reconstructive procedures that are utilized to achieve the surgical objectives; patient anatomy and surgeon preference dictate which technique is utilized:

• modern staged repair of exstrophy
• complete primary repair of exstrophy
• Kelly’s radical soft tissue mobilization
• Warsaw procedure

Long-term Care and Transition to Adult Care Providers

All patients born with BEEC require and deserve lifelong care by specialists, and there are some issues that come to the forefront when they are adults. Having a transitional urology program is vital to ensure that these patients don’t fall through the cracks of the U.S. health care system. See the Table for details of these conditions.

Logistical Considerations

There are approximately 120 cases delivered each year at one of the 3,207 labor and delivery hospitals in the U.S. (0.03 cases/y per birth hospital). These neonates are then transferred to one of 250 children’s hospitals for specialized care (0.48 cases/y). Given the infrequent presentation of these cases, most hospitals do not develop the experience or the specialized teams required to ensure optimal care for these patients.^1,2

Bladder exstrophy surgery is hard to do, and it is hard to perform due to the infrequent occurrence of this condition. Annually the 120 new cases in the U.S. are managed by one of 724 pediatric urologists. On average each pediatric urologist will have to wait 6 years to be involved with 1 case of BEEC; another way of looking at this is that during a 35-year career, most pediatric urologists will have the privilege of being involved in the care of 6 patients with bladder exstrophy. Improved clinical outcomes and reductions in the overall cost of care and burden of care have been demonstrated by the creation of dedicated centers focused on the management of specific clinical conditions. We need to be more proactive in developing regional centers for the care of individuals with BEEC; in addition to improved clinical outcomes, this strategy will also ensure ongoing coaching and mentoring of clinicians involved in the care of these individuals. Multi-institutional collaborative networks in the care of patients with BEEC have also demonstrated significant benefits.³

Conclusions

BEEC is indeed a very challenging condition with significant impact on the affected individual and their family. Over the past few decades, significant advances have been made in the care of these patients and there have been improvements in clinical outcomes. The 2 deliverables that we still have to considerably enhance are urinary continence and phallic reconstruction for male patients. By creating regional centers of excellence for the management of BEEC, we can enable clinical teams who focus on this condition to develop the expertise to change the outcome for these individuals for whom we are all privileged to provide care.