Cloacal Exstrophy with Dr. Alberto Peña
Cloacal exstrophy is a spectrum of congenital malformations affecting the gastrointestinal/colorectal area, urogenital tract, spine and cord, and sometimes lower extremity motion.
Babies with cloacal exstrophy are born with an omphalocele, bladder exstrophy (two separated hemibladders), open cecum between the hemibladders, and separated pubic bones.
The small bowel can become exstrophic through the ileocecal valve, creating an 'elephant trunk' appearance.
Male patients have two separated hemiphalluses with normal gonads; female patients have two hemivaginas below the exstrophic bladder leading to two hemiuteri.
Cloacal exstrophy represents a spectrum of colonic anatomy from normal colon to almost absent or completely absent colon, sometimes with two ceca or two appendices and bizarre blood supply.
The amount of colon present at birth has very important implications for the patient's management and outcomes.
A variant exists where babies are born with intact abdominal skin (no omphalocele, no bladder exstrophy externally) but have a completely open bladder inside with no bladder neck and a single large perineal orifice.
While surgical techniques, intensive care, parenteral nutrition, and metabolic management have improved, functional outcomes (bowel control, urinary control, sexual function, spinal abnormalities) remain severely limited and cannot be made normal.
Historical practice was to perform bilateral gonadectomy, remove hemiphalluses, create a vagina with bowel, and assign female gender to XY patients with cloacal exstrophy.
Patients raised as female despite XY chromosomes exhibited male attitudes and behavior, and many became upset upon learning their chromosomal sex and that gonads were removed without their consent.
Patients argued that sex is not the most important aspect of being male, that they wanted their gonads back for fertility (modern techniques allow fertilization and children), and that being male is much more than having a phallus.
Expert opinionAlberto Peña9:59
Current consensus is that XY patients should be raised as male, with pediatric urologists and plastic surgeons working on phallus reconstruction techniques.
Cites a guidelineAlberto Peña10:34
When a prominent pediatric urologist dominates management, patients receive good urologic attention but inadequate gastrointestinal care; the reverse occurs when pediatric surgeons dominate.
The pediatric surgeon's role in the initial operation is to close the omphalocele (if possible), separate urothelium from intestinal mucosa by placing stitches at the edges and making an incision, allowing the urologist to bring hemibladders together.
It is very common but very harmful for pediatric surgeons to simply create an ileostomy, leaving all colon distally attached to the urinary tract.
Leaving colon attached to the urinary tract creates a congenital bladder augmentation that causes hyperchloremic acidosis from urine absorption, interfering with growth and development.
Defunctionalized colonic tissue left distally will not grow; colon requires passage of fecal matter through its lumen to grow.
The pediatric surgeon must incorporate all gastrointestinal tissue into the fecal stream and create a true end colostomy to ensure fecal matter passes through all colonic tissue.
Patients who received ileostomy with defunctionalized colon present at 2-3 years with poor growth, hyperchloremic acidosis managed by nephrologists, and large ileostomy losses.
The rescue operation involves taking down the ileostomy, finding and incorporating colonic tissue into the GI tract, and creating an end colostomy; acidosis disappears the next day.
Surgeons must accept that cloacal exstrophy is a spectrum and be prepared to deal with complex, variable colonic anatomy rather than taking the easy way out with an ileostomy.
Expert opinionAlberto Peña19:13
Some institutions routinely perform pelvic osteotomy at the initial operation to facilitate bladder and omphalocele reconstruction, while others wait 2-3 months to do it separately.
Even after osteotomy, it is very difficult to see a cloacal exstrophy patient with pubic bones completely together; they usually remain separated.
Even a technically correct end colostomy often has poor motility, and babies may not pass stool easily, sometimes developing bacterial overgrowth similar to Hirschsprung disease.
Families must be taught to irrigate the colostomy with small volumes of saline through a tube to evacuate fecal material when peristalsis is inadequate.
Decision-making for bowel control begins around age 3 when parents want to send the child to school clean and dry (no stool or urine in diaper).
Most cloacal exstrophy patients have an inadequate, tiny bladder requiring bladder augmentation with gastrointestinal tract, necessitating coordination between pediatric surgery and urology.
Patients born with no colon are candidates for permanent colostomy and should never have terminal ileum pulled through, even if sphincter evidence exists, because they will never have bowel control.
Pull-through is only considered for patients with capacity to form solid stool (adequate colon), as bowel management only works with solid stool.
It is extremely unusual for cloacal exstrophy patients to have spontaneous bowel control; the overwhelming majority need a bowel management program (enema administration to keep patient clean).