Symptoms of epispadias and bladder exstrophy

Classic symptoms of bladder exstrophy

Unlike patients with cloacal exstrophy and its variants, the symptoms of classic bladder exstrophy are combined with minor and small-scale combined anomalies of the abdomen, perineum, upper urinary tract, genitals, spine and pelvic bones.

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Belly and perineum

The rhomboid zone, bounded by the umbilicus, anus, rectus abdominis muscles, and the skin covering the puborectal loop, is subject to the greatest anatomical changes. The distance from the umbilicus to the anus is shortened in bladder exstrophy because the umbilicus is located lower than normal and the anus is anterior. The area between the spread muscles of the anterior abdominal wall and the edge of the extrophied bladder is covered with thin fibrous tissue. The widely spaced pubic bones displace the rectus muscles laterally. The rectus muscle on each side is attached to the pubic tubercle. The laterally displaced rectus muscles widen and shorten the inguinal canal, which increases the likelihood of an oblique inguinal hernia.

Inguinal hernia occurs in 56% of boys and 15% of girls with classic bladder exstrophy. Anal atresia in bladder exstrophy is rare. Fistulous forms of anal atresia, opening into the perineum, vagina or extrophic bladder, are more common. In patients who have not had surgery for bladder exstrophy, rectal prolapse often occurs, which is facilitated by the weakness of the pelvic diaphragm muscles and the anal mechanism, which is typical for such patients. Prolapse almost never occurs in patients who underwent bladder plastic surgery in the neonatal period. If prolapse does develop, it does not require surgical treatment, since it goes away after bladder plastic surgery.

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Urinary system

In exstrophy, the bladder is inverted in the form of a dome and increases in size when the child is restless. Exstrophy sites vary in size: from small (2-3 cm) to a large prolapsing mass. The mucous membrane is clean, smooth, and pink immediately after birth. If the bladder remains open, its surface quickly undergoes polypoid degeneration, which significantly worsens its condition. Contact of the mucous membrane with napkins or clothing contributes to bladder irritation.

Lack of treatment leads to squamous or adenomatous metaplasia, and subsequently, in adult patients, it can develop into squamous cell carcinoma or adenocarcinoma. Before radical surgery, to protect the mucous membrane from damage, it is advisable to cover it with perforated cellophane film and avoid direct contact of the mucous membrane with napkins and diapers. Cases of doubling are possible, when along with the extrophic bladder there is also a normal one, displaced to the side.

Researchers believe that bladder exstrophy is characterized by normal blood supply and normal neuromuscular apparatus and, therefore, immediately after plastic surgery the bladder has full detrusor function. However, there are isolated reports of poor detrusor function even after successful surgery.

Renal anomalies in patients with bladder exstrophy are rare. If the bladder remains open for a long time and the mucous membrane in the area of the orifices undergoes severe fibrous degeneration, ureterohydronephrosis sometimes develops. However, this problem is extremely rare in infancy. The ureters in bladder exstrophy enter it at a right angle and have virtually no submucous tunnel, which is why almost all children (more than 90%) experience vesicoureteral reflux after primary bladder plastic surgery. Male genitals.

In patients with bladder exstrophy, the penis is significantly shorter due to the divergence of the pubic bones, which prevents the cavernous bodies from joining along the midline, as is normal. As a result, the length of the free protruding "hanging" part of the penis decreases. The size of the penis is also affected by its curvature. Upon examination, it is found that the penis of a child with epispadias has a characteristic forced position, pressed against the anterior abdominal wall. This is due to the pronounced dorsal deformation of the cavernous bodies, clearly visible during erection. It has been established that the length of the ventral surface of the cavernous bodies in bladder exstrophy is greater than their dorsal portion due to fibrous changes in the tissue of the tunica albuginea.

With age, these differences only increase, and the deformation of the penis increases. To achieve complete straightening of the cavernous bodies and increase the length of the penis, plastic surgery of the dorsal surface of the cavernous bodies with free flaps of de-epithelialized skin is possible. The urethra in patients with bladder exstrophy is completely split and opened to the head. The urethral area is usually shortened. In rare cases (3-5%), aplasia of one of the cavernous bodies is observed. Doubling of the penis or its complete absence (aplasia) is possible, especially with cloacal exstrophy.

The innervation of the penis is normal. In patients with bladder exstrophy, the superficial vascular-nerve bundle that provides erection is displaced laterally and is represented by two separate bundles. Despite the massive tissue removal during surgery, most patients retain sexual potency after penile reconstruction.

Wolffian structures are normal in boys. Patients with bladder neck dysfunction or open neck often have a problem with retrograde ejaculation after surgery. However, if reconstruction is adequate, patients with exstrophy can have children in the future.

Cryptorchidism is 10 times more common in patients with exstrophy, but experience shows that many children diagnosed with cryptorchidism actually have retracted testicles. They can be brought down into the scrotum without much difficulty after reconstruction of the bladder female genitalia.

Female genitalia

In girls with bladder exstrophy, the clitoris is split into two parts. In this case, half of the clitoris is located on each side of the genital slit together with the labia. The vagina is usually single, but can be bifurcated. The external opening of the vagina is sometimes narrowed and often displaced anteriorly. The degree of displacement corresponds to the degree of shortening of the distance between the navel and the anus. The uterus can be bifurcated. The ovaries and fallopian tubes are usually normal. Prolapse of the uterus and vagina is possible in women with bladder exstrophy at an older age due to a defect in the pelvic floor muscles, which creates serious difficulties for this group of patients during pregnancy. Primary bladder plastic surgery with pubic bone reduction reduces the risk of these complications. Operations to fix the uterus, such as sacrocolpopexy, help solve these problems.

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Pelvic bone anomalies

Diastasis of the pubic bones is one of the components of the exstrophy-epispadias complex. It is the result of external rotation and underdevelopment of the pubic and ischial bones in the area of their junction, combined with underdevelopment of the bones of the sacroiliac joint. In patients with bladder exstrophy, external rotation and shortening of the anterior iliac branch by 30% are detected, combined with external rotation of the posterior segment of the ilium. Visually, the hips of children with exstrophy are rotated outward, but problems associated with the function of the hip joints and gait disturbances usually do not arise, especially if the pubic bones were brought together at an early age.

Many children have a gait disorder in early childhood, they walk with a waddling gait with their feet rotated outward ("duck gait"), but later the gait is corrected. Congenital hip dislocation in children with this anomaly is extremely rare, there are only two such cases reported in the literature.

Only a few studies have noted that vertebral anomalies are more common in patients with bladder exstrophy than in the general population.

Various variants of pelvic bone osteotomy have been proposed to ensure the reduction and fixation of the pubic bones. The operations are primarily aimed not at solving orthopedic problems, but at increasing the chances of reliable primary bladder plastic surgery and significantly improve the functions of the pelvic diaphragm muscles involved in the mechanism of urine retention.

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Cloacal exstrophy

Cloacal exstrophy is also called vesicointestinal cleft, ectopic cloaca, visceral ectopia complicated by bladder exstrophy and abdominal wall cleft. This most severe form of abdominal wall anomaly occurs in 1 in 400,000 live births. The complex of anatomical changes in the classic version of cloacal exstrophy includes a herniated umbilical cord at the top, eventrated intestinal loops, and a bifid bladder.

Between the two halves of the urinary bladder there is a section of intestine which histologically is the ileocaecal region and has up to four openings, the uppermost of which corresponds to the evented small intestine. In appearance, the exstrophy of the cloaca resembles an "elephant's face", and the intestine turned outward resembles its "trunk". Below there is an opening leading to the blind-ending distal section of the intestine, combined with atresia of the anal opening. Between the upper (proximal) and lower (distal) openings there may be one or two "appendicular" openings.

In all cases, patients have pronounced defects of the genitals. In boys, this is cryptorchidism and a penis split into two separate cavernous bodies with signs of epispadias. It is with cloacal exstrophy that hypoplasia or aplasia of one of the cavernous bodies often occurs. Girls have a split clitoris, vaginal doubling, and a bicornuate uterus.

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Epispadias

Isolated epispadias is considered a less serious problem among the diseases of the "exstrophy epispadias" complex. Patients do not have bladder anomalies and anterior abdominal wall defect, however, as in exstrophy, the urethra is represented by a split area located along the dorsal surface of the penis. In boys, a shortening of the penis and the formation of a dorsal chord are detected, and in girls - a split clitoris, while the vagina is displaced anteriorly or is in a typical place. In addition to the above, diastasis of the pubic bones is observed. The neck of the bladder in epispadias is often malformed: it is wide and does not hold urine. Continence of urine can be preserved in boys with distal epispadias, in whom the neck of the bladder is formed correctly. Female epispadias is almost always accompanied by urinary incontinence to varying degrees.

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Exstrophy Variants

Among patients with the "epispadias exstrophy" complex, there are many variants of pathology development. Depending on the size of the bladder area, it can be partially closed and immersed in the small pelvis; such forms are called partial exstrophy. Incomplete closure of the bladder during its formation manifests itself in the form of various developmental defects - from the introduction of the bladder into the vagina of the rectus abdominis muscle to the complete protrusion of the bladder through a small defect above the pubis. Patients with divergence of the pubic bones and a defect of the anterior abdominal wall, but without any defects of the urinary system, have been described.

Such cases were diagnosed as a variant of closed exstrophy. Patients with superior vesical cleft have the same bone and muscle defects as bladder exstrophy, but the changes occur only in the upper part. The bladder neck, urethra and genitals undergo less changes: for example, with this pathology, a normal or almost normal penis develops. Some children required minimal corrective intervention to suture the defect, the operations were effective and fully ensured normal urinary continence.

Bladder duplication is possible when a child is examined and one closed bladder with normal urinary retention and the other with exstrophy is found. The size of the penis and the degree of separation of the cavernous bodies in patients vary. There are known cases of hypospadias in children with cloacal exstrophy. A description and discussion of the various variants of exstrophy are necessary to assess the diversity of manifestations of the pathology. Comparison of the observed variants with existing classical forms of the "exstrophy-epispadias" complex helps to choose the optimal treatment tactics.