–Cloacal extrophy develops as a result of:

•Failure of the urorectal septum to develop and divides the urogenital sinus anteriorly from the rectum posteriorly.

•Failure of the mesoderm forming the infraumbilical abdominal wall to proliferate and form the lower abdominal wall

•Failure of the genital tubercle to develop.

•Failure of these events to occur results in exstrophy of both bladder and intestine.

–Classically, cloacal exstrophy is made up of omphalocele, exstrophied ileocecal region of bowel, exstrophied hemi bladders each with its ipsilateral ureter, and anorectal agenesis.

–The pubic bones are widely separated, and spinal dysraphism is common in these patients.

13.5.4 Prenatal Diagnosis

•The prenatal diagnosis of cloacal exstrophy is now possible based on prenatal ultrasound findings.

•The prenatal ultrasound findings were classified into major and minor criteria.

•The Major criteria include:

–Nonvisualization of the urinary bladder (91 %)

–A large midline infraumbilical anterior wall defect or a cystic anterior wall structure (82 %)

–An omphalocele (77 %)

–A myelomeningocele (68 %)

•The minor criteria include:

–Lower extremity anomalies (23 %)

–Renal anomalies (23 %)

–Ascites (41 %)

–Widened pubic arches (18 %)

–Narrow thorax (9 %)

–Hydrocephalus (9 %)

–A single umbilical artery (9 %)

–The characteristic elephant trunk appearance that the prolapsing terminal ileum can produce

13.5.5 Associated Anomalies

•Cloacal exstrophy is commonly associated with other anomalies including cardiovascular, and central nervous system anomalies.

•Omphalocele (70–90 %)

•Spinal and Skeletal Anomalies (46 %):

–The pelvic defects in cloacal exstrophy are similar in nature but more severe than that in bladder exstrophy.

–The interpubic diastasis is wide.

–The anterior segment length (distance from the triradiate cartilage to the pubis) is shorter in cloacal exstrophy patients.

–The angle of iliac wing is markedly increased showing extreme external rotation.

–The ischiopubic angle is increased.

–Asymmetry between the pelvis sides, sacroiliac joint malformations, and occasional hip malformations

–Skeletal and limb anomalies were reported in 12–65 % of cases of cloacal exstrophy.

•Clubfoot deformities (Fig. 13.57)

•Absence of feet

•Severe tibial or fibular deformities

•Congenital hip dislocations

–Hemivertebra

–Myelomeningocele

Fig. 13.57 Clinical photograph of a newborn with cloacal exstrophy. Note also the bilateral tallipes equinovarus

–Absence of feet

–Sacralization of L5

–Congenital scoliosis

–Sacral agenesis

–Interpedicular widening

•Upper Urinary Tract Anomalies:

–Upper tract anomalies are seen in 41–60 % of patients with cloacal exstrophy.

–These anomalies include:

•Ectopic Pelvic kidneys

•Horseshoe kidney

•Renal agenesis

•Hydronephrosis and hydroureter

•Multicystic dysplastic kidneys

•Hypoplastic kidney or renal agenesis

•Ectopic ureters

•Ureteral duplication

•Congenital stricture

•Megaureters

•Solitary kidney

•Ureteropelvic junction obstruction

•Ureterocele

•Lower extremity anomalies (30 %)

•Double appendix (30 %)

•Absent appendix (21 %)

•Short bowel syndrome (19–46 %)

•Gastrointestinal duplications

•Small bowel atresia (5 %)

•Abdominal wall musculature deficiency (1 %)

•Gastrointestinal Anomalies:

–Omphaloceles are reported in more than 88–100 % of cloacal exstrophy and vary widely in size.

–Other gastrointestinal anomalies were reported in 46% of cloacal exstrophy patients.

•Malrotation

•Bowel duplication

•Duodenal atresia

•Duodenal web

•Meckel’s diverticulum

–Short gut syndrome is reported in 25 % of cloacal exstrophy patients.

–It is important to preserve as much bowel as possible in these patients.

–Short gut syndrome can however develop in the presence of normal small bowel length suggesting an absorptive dysfunction.

•Neurospinal Anomalies:

–Neurospinal abnormalities have been noted in 85–100 % of patients with cloacal exstrophy

•Lumbar anomalies (80 %)

•Thoracic anomalies (10 %)

•Sacral anomalies (10 %)

–Neurospinal anomalies include:

•Lipomeningoceles

•Myelomeningoceles

•Spina bifida

•Isolated cord tethering

–It is recommended that all cloacal exstrophy patients have a spinal evaluation by ultrasound or MRI. Ultrasound is quicker, easier, and less expensive and does not require sedation and the ultrasound findings are comparable to MRI.

–The presence of a significant neurologic deficit is associated with severe impairments and markedly decreased chance of developing continence.

–Long-term follow-up is important in these patients since up to 33 % can have symptomatic spinal cord tethering.

•Mullerian and Testicular Anomalies:

–The most common Mullerian anomaly reported was uterine duplication (95 %). The most common is partial duplication, predominately a bicornate uterus.

–Duplication of the vagina (65 %)

–Vaginal agenesis (25–50 %)

–Undescended testes

–Inguinal hernias

•Cardiovascular and Pulmonary Anomalies

–Life-threatening anomalies of the cardiovascular and pulmonary systems are rare.

–There are rare reports of patients with cyanotic heart disease, aortic duplication, vena caval duplication, bilobed lung and an atretic upper lobe bronchus.

13.5.6Clinical Features

and Management (Figs. 13.58, 13.59, and 13.60)

•Cloacal exstrophy is a very rare and complex anomaly of the urogenital tract and intestinal tract resulting in exstrophy of both bowel and bladder.

•Commonly in cloacal exstrophy, the exstrophied bowel is the ileo-cecal region with little

or no large bowel distally, but there are cases where there is colonic exstrophy with sufficient large bowel length.

•A small colon usually ends blindly in the pelvis, and the terminal ileum often prolapses out of the exposed cecum.

•The presence of enough large bowel is advantageous from the reconstruction point of view and every attempt should be made to preserve every part of bowel.

Figs. 13.58, 13.59, and 13.60 Clinical photograph showing cloacal exstrophy. Note the omphalocele which is large in the first and small in the lower two pictures. Note also the urinary bladder in the first photograph

divided into two halves and the prolapsed ileo-cecal region with the terminal ileum open with meconium passing from it. Note the large prolapsing ieocecal region in the lower pictures

•The exstrophied ileocecal region and in the presence of short large bowel should be preserved for reconstruction of the anorectal malformation.

•Every effort should be made to preserve all large intestines because:

–It can be used for bladder augmentation which is necessary in the majority of these patients to increase the bladder compliance.

–It can be used also for reconstruction of the anorectal malformation.

–It can be used for vaginal reconstruction in those who have vaginal agenesis or those undergoing gender reassignment.

•Add to this the valuable absorptive function of the large bowel.

•Augmentation of the urinary bladder may be performed using the hindgut if enough length is available, ileum, or part of the stomach.

•In the absence of large intestine, both small bowel and stomach can be used for bladder augmentation but gastrocytoplasty was shown to be superior.

•Gender assignment is one of the difficult tasks in the management of newborns with cloacal exstrophy.

•It is important to determine early the genetic sex of the patient as this will affect the subsequent management.

•Genetic females should not raise a problem as they will be raised as females.

•In genetic males with cloacal extrophy, the phallic structures are usually small and completely bifid with insufficient phallic tissue to reconstruct an adequate penis.

•There is now general consensus that genetic males with insufficient phallus be gender reassigned as phenotypic females, and to minimize testosterone imprinting on the nervous system, this should be done in the immediate newborn period with early orchidectomy.

•Males with adequate bilateral or unilateral phallic structures should however, be raised as males.

•In the classic repair of cloacal extrophy in males an epispadias is created initially after urinary bladder closure.

•The treatment of cloacal exstrophy is complex and should be performed in specialized centers and by experienced surgeons.

•The reconstructive surgery consists of a series of corrective surgeries performed over several years.

•The management of newborns with cloacal exstrophy has progressed over the years, and now a very reasonable outcome is expected in most cases. This, however, requires a team approach including:

–Neonatologists

–Pediatric surgeons

–Pediatric urologist

–Neurosurgeons

–Pediatric orthopedic surgeons

–Endocrinologist

–Geneticists

–Psychologist

–Social workers

–Stoma therapist

–Pediatric gastroenterologist

•Although there are general guidelines in managing newborns with cloacal exstrophy, after thorough evaluation of the anatomical abnormalities, the management should be individualized.

•Immediate management is directed to the medical stabilization of the infant.

•Evaluation and appropriate management of associated malformations should be undertaken.

•For infants who have few other associated malformations and are medically stable, staged closure can be considered.

•The exposed bowel and urinary bladder should be moistened with saline irrigation and covered with protective plastic dressing. Wet gauze applied on the urinary bladder should be avoided.

•Evaluation of the genitalia and gender assignment should be made by a gender assignment team, including a pediatric urologist, pediatric surgeon, pediatrician, and pediatric endocrinologist.

•Consultation of social worker, pediatric orthopedic surgeon and other disciplines should be obtained.

Fig. 13.61 A KUB of a patient with cloacal exstrophy. Note the soft tissue in mid lower part repressing the exstrophied bladder and ileocecal area. Note the widely separated pelvis and pubic bones

•The parents stress should not be overlooked during the initial and long-term care of these patients. A detailed discussion with the parents is important. This should include gender assignment and management plan of these patients as well as future prognosis.

•A cardiac echo is done to rule out associated cardiopulmonary anomalies.

•A renal ultrasound should be obtained to evaluate the upper urinary tracts.

•A KUB is done to evaluate the pelvis bony anatomy (Fig. 13.61).

•A spinal ultrasound or MRI is done to rule out an associated spinal dysraphism.

•Antibiotics should be started immediately after delivery and continued postoperatively.

•Daily prophylactic antibiotic therapy should be given to these patients during postoperative follow-up.

•These patients have a high incidence of latex sensitization and it is important to institute latex precautions.

•The initial operation consists of:

–Separating the bowel from the bladder to create an intestinal stoma.

–Closing the omphalocele.

–Reapproximating, closing, or leaving the exstrophied bladder undisturbed.

•The importance of creating a colostomy instead of an ileostomy to prevent problems with diarrhea, dehydration, and acidosis is to be emphasized.

13.5.7Surgical Repair of Cloacal Exstrophy (Figs. 13.62, 13.63, and 13.64)

•The surgical management of cloacal exstrophy includes:

–Pelvic osteotomy and immobilization

–Closure of urinary bladder

–Closure of abdominal wall

–An antireflux procedure

–Augmentation cystoplasty

–Continent urinary diversion

•After delivery, the exposed bladder and bowel mucosa should be covered or wrapped to avoid mechanical irritation. The exposed bladder is irrigated with warm normal saline.

•A spinal ultrasound or MRI is important to define and diagnose associated neurologic anomalies.

•A central line should be inserted as these patients require antibiotics and total parenteral nutrition.

•Intestinal diversion is performed along with omphalocele repair.

•It is important to preserve any rudimentary hindgut and part of bowel to avoid short bowel syndrome.

•The exposed urinary bladder is also closed.

•Gender assignment is important for those 46XY male cloacal exstrophy patients with inadequate phallic structures for reconstruction.

Fig. 13.62 A clinical intraoperative photograph of cloacal extrophy being repaired. Note the two ureteric catheters inserted and the mobilized urinary bladder. Note also

the divided ileum to form an ileostomy. Part of the bowel is left in the posterior wall of the urinary bladder for bladder augmentation