Keywords
covered cloacal exstrophy - variant - anorectal malformation - bladder duplication
Introduction
Covered cloacal exstrophy is a rare congenital malformation with many different anatomic
variants. Given the intact abdominal wall, this diagnosis can be missed despite having
severe intra-abdominal anatomic abnormalities (e.g., abnormal and shortened colon,
colonicurinary tract communication) that resemble those observed in true cloacal exstrophy
1. There are distinct clinical and radiologic features (i.e., imperforate anus, low
lying umbilicus, pubic diastasis, foreshortened colon) observed in these infants;
however, a high clinical suspicion is required to make an accurate diagnosis and properly
treat the patient in the newborn period. We present a patient treated at our institution
who also had covered cloacal exstrophy and a side-by-side duplicated bladder with
single urethra and phallus.
Case Presentation
A newborn of 36 weeks of gestation with karyotype XY presented to our institution
with an imperforate anus and passing stool from a hypospadic urethra. He had a single
phallus with a coronal hypospadias, penile shaft lipoma, and complete separation of
his hemiscrotum. In addition, it was noted that he had a low lying umbilicus and a
pubic diastasis ([Fig. 1]).
Fig. 1 Male newborn with clinical features of covered cloacal exstrophy: pubic bone diastasis,
low lying umbilicus, and meconium in urine (rectourinary tract fistula).
He was taken to the operating room at 24 hours of life for abdominal exploration and
planned colostomy. At this time, a fistula from the rectum to the dome of the bladder
was observed. The colon was noted to be short with only the appearance of a right
colon and two appendices. The vesicocolonic fistula was taken down and the bladder
primarily repaired. The mobilized colon was matured into an end colostomy in the left
mid quadrant. VACTERL screening revealed a tethered cord, a sacral ratio of 0.6, multiple
vertebral anomalies, side-by-side duplication of his bladder (with a single ureter
entering each bladder found upon retrograde pyelogram), and proximal Y duplication
of his urethra ([Fig. 2]). He underwent urodynamic testing of each bladder that showed low pressure, compliant
bladders of low-volume capacity on each side. He had normal appearing kidneys on renal
ultrasound without hydronephrosis, which were normally located in the right and left
renal fossa. He had a normal creatinine level of 0.23. He was able to generate a urinary
stream but was still in diapers. There have been no urinary tract infections (UTIs)
since 1 year of age. The stoma effluence is thickening and he is feeding well and
gaining weight.
Fig. 2 Retrograde pyelogram showing a side-by-side duplication of the bladder with a single
ureter entering each bladder in a patient with covered cloacal exstrophy.
Discussion
The clinical features we present are compatible with covered cloacal exstrophy: low
lying umbilicus, pubic diastasis, short colon, vesicocolonic fistula, and other urologic
abnormalities.[1] Covered cloacal exstrophy is a rare disease with many different anatomic variants.
The initial diagnosis of exstrophy variants can be difficult because their presentation
can be confusing. The resulting delay in initial treatment can have significant consequences
in surgical planning and future continence outcomes.[2] A high clinical suspicion is required to make the diagnosis and may include a prenatal
ultrasound suggestive of classic cloacal exstrophy (such as low-set umbilicus, omphalocele,
diastasis of the pubic rami, split vulva, unilateral renal agenesis). The presence
of bladder filling and absence of the characteristic elephant trunk appearance of
the prolapsing terminal ileum may suggest the diagnosis of a covered cloacal exstrophy
prenatally.[3]
[4] In addition, these patients often commonly have severe spinal abnormalities, such
as a tethered cord or spinal dysraphisms.[5]
With regard to colorectal management, it is extremely important to diagnose the malformation
in the newborn period, as this will affect the management of the bowel during stoma
creation. The goal should be to maintain as much colon as possible, and include it
in the fecal stream, including separation of bowel as low as possible from the urinary
tract, to improve the potential to make solid stool and a future pull through.[6]
With regard to urologic management, it is important to screen for other urologic abnormalities
and consider the potential for neurogenic pathology, ultimately affecting bladder
function. This patient had an unusual associated urologic malformation of a side-by-side
duplicated bladder. The significance of these bladders was unclear, as he was clinically
well and not near toilet training age. Side-by-side bladder duplications may in fact
be continent, as each bladder can have its own intact sphincter.[2] He would need repair of his genitalia (hypospadias, scrotoplasty, and removal of
the penile shaft lipoma). He is planned to have a pull through of the colostomy with
access for antegrade flushes at toilet training age. Clearly close collaboration between
colorectal surgery and pediatric urology is the key to providing this child optimal
care.[7]
