Bladder exstrophy-epispadias-cloacal dystrophy complex is a spectrum of anomalies involving the urinary tract, genital tract, musculoskeletal system, and sometimes the intestinal tract. In classic bladder dystrophy, most anomalies are related to defects of the abdominal wall, bladder, genitalia, pelvic bones, rectum, and anus.
Bladder dystrophy is a rare developmental abnormality that is present at birth (congenital) in which the bladder and related structures are turned inside out. The rear portion of the bladder wall (posterior medial wall) turns outward (dystrophy) through an opening in the abdominal wall, and urine is excreted through this opening. The extent of the dystrophy depends on how large the opening is. The mildest form is when there is a defect or opening in the tube that carries urine out of the body from the bladder (urethra) and is termed epistasis.
The most severe form is when there is a defect in the urethra, bladder, and bowel (cloacae dystrophy). Classic bladder dystrophy is when there is a defect in the urethra and bladder and is intermediate in severity. The underlying cause of this complex is not known. The physical characteristics are the result of a developmental abnormality during embryonic growth, in which the cloacae membrane is not replaced by tissue that will form the abdominal muscles.
Symptoms
The bladder-exstrophy-epispadias-cloacal exstrophy complex can take many forms depending on the extent of the developmental abnormality that causes it. The mildest form is when there is an opening in the urethra (epistasis The most severe form is when there is an opening in the urethra, bladder, and bowel (cloacae exstrophy).
The most common form is classic bladder exstrophy in which the bladder and related structures are turned inside out through an opening in the abdominal wall. Classic bladder exstrophy is intermediate in severity, and the bladder is open from the top of the bladder through the urethra and to the tip of the penis.
Boys with epistasis have an extremely short urethra and split, and the opening is on the upper surface of the penis. Girls with epistasis have a urethral opening located between a split clitoris and labia minor.
Cloacae exstrophy is a severe birth defect in which there is usually a membrane-covered area on the abdominal wall that contains the abdominal contents (omphalocele). The bladder is divided into two halves, and males have a penis split in two halves. Females have a clitoris divided into two halves and may have two vaginal openings. The opening of the rectum to the outside of the body is usually missing or abnormally small.
Other abnormalities are sometimes associated with the complex. These include a separation of the pubic bones, absence of the lower portion of the bladder causing lack of bladder control (incontinence), and abnormal position of the tubes that carry urine from the kidneys to the bladder (ureters) causing a backup of urine in the kidneys (reflux),
Causes
In normal development, the cloacae membrane temporarily separates the urogenital and anal structures and then breaks when tissue that will form abdominal muscles begins to grow in its place. The bladder exstrophy-epispadias-cloacal exstrophy complex is caused by a developmental abnormality that occurs 4-5 weeks after conception, in which the cloacae membrane is not replaced by tissue that will form the abdominal muscles. The underlying cause of this error in development is not known.
Diagnosis
Prenatal ultrasound examination of a fetus with the complex may reveal the absence of bladder filling, low-set umbilical cord, separation of pubic bones, small genitals, and an abdominal mass that increases in size as the pregnancy progresses.
Treatment
The treatment of bladder exstrophy consists of a series of corrective surgeries performed over several years. The first surgery is the closure of the bladder to allow it to hold urine, placement of the bladder inside the pelvis, and closure of the abdominal wall. In some cases, children with bladder exstrophy may also require a series of surgical procedures to reconstruct the external genitalia. These surgeries are usually performed before the age of 2 years. Bladder neck reconstruction is performed at approximately 5 years of age to allow control of urine and ureters are repositioned to prevent urine from backing up into the kidneys.
The outlook for maintaining normal kidney function after surgical correction and reconstruction is good. However, some individuals with this disorder may experience long-term urinary problems such as kidney stones, kidney infections, and varying degrees of urinary incontinence. Another treatment is symptomatic and supportive.
Investigational Therapies
The use of three-dimensional CT to evaluate the bony pelvis and pelvic floor is being explored. This may provide new insight into long-term issues such as urinary and fecal incontinence and pelvic organ prolapse and help in developing better techniques for reconstruction of the pelvic bones and pelvic floor (osteotomy) in these patients.
References
Bjornstad Syndrome
