Rare superior vesical fissure reported with VACTERL association in Ugandan child

Surgeons in Uganda have reported what they describe as the first documented case of superior vesical fissure, a rare variant of classic bladder exstrophy, occurring together with VACTERL association, a pattern of multiple congenital anomalies affecting the vertebrae, anus, heart, trachea and esophagus, kidneys, and limbs. The case, published in the African Journal of Urology, follows a female infant born at 38 weeks of gestation who underwent staged surgical repair and, at two years of follow-up, is passing stool normally without soiling and remains continent for urine.

Classic bladder exstrophy is defined by a constellation of abnormalities of the genitourinary and musculoskeletal systems. Affected newborns are born with an open bladder lying on the anterior abdominal wall, contiguous with an epispadiac penis or bifid clitoris, with divergent rectus muscles. The pelvis in classic exstrophy is characterized by wide diastasis of the symphysis pubis, caused by a 30 percent bony deficit of the anterior pubic rami, combined with a 12-degree external rotation of the posterior pelvis and an 18-degree external rotation of the anterior aspect. Superior vesical fissure differs from this classic picture in a crucial way: only the upper portion of the bladder is open, near the umbilicus, while the lower urinary tract remains unexposed and the external genitalia are preserved.

The variant is exceptionally uncommon. According to the authors, literature documents only about 30 cases of superior vesical fissure worldwide, and none of those had previously been linked to VACTERL association. They cite work by Lowentritt and colleagues, who identified only 25 patients with variant presentations within a database of more than 800 exstrophy patients, meaning that variant presentations of the exstrophy complex are roughly ten times less frequent than classic bladder exstrophy. That same work described seven distinct variants of the epispadias-bladder and cloacal exstrophy complex: pseudoexstrophy, superior vesical fissure, duplicate exstrophy, covered exstrophy, epispadias with prolapse of the bladder, covered cloacal exstrophy, and duplicate bladder.

The child in this report weighed 3.3 kilograms at birth after an uncomplicated pregnancy. Her mother reported an unremarkable adaptation and there was no family history of similar anomalies. At birth, clinicians noted an obvious urological abnormality: a 2-centimeter-long, vertical strip of exposed, moist, red and shiny mucosa along the midline of the lower anterior abdominal wall, with urine visibly draining from it. Unlike classic exstrophy, the symphysis pubis was normal, a finding confirmed on plain radiography. In superior vesical fissure, the pelvic diastasis typical of classic exstrophy, if present at all, is usually not wide, a feature that the authors note often allows urinary continence, as ultimately observed in this child.

Beyond the bladder anomaly, the infant carried a heavy burden of associated malformations that together fulfilled the criteria for VACTERL association. These included a low anorectal malformation in the form of a vestibular fistula, a left clubfoot, sacral dysplasia, multiple vertebral segmentation anomalies of the lower thoracic and lumbar spine with fused vertebrae and hemivertebrae, a unilateral left lumbar rib, and developmental dysplasia of the left hip, with a shallow acetabular roof and an underdeveloped, superiorly displaced ossification nucleus of the femoral head. She also had a small ventricular septal defect, assessed by a pediatric cardiologist and managed conservatively, fibromatosis colli, and left renal agenesis.

Surgical management began early. The child was taken to the operating room, where cysto-vaginoscopy, repair of the superior vesical fissure, and a double-barrel sigmoidostomy for the vestibular fistula were performed. During the procedure, the urethra and urinary bladder were visualized and found to have a normal orthotopic urethra, normal bladder mucosa, and a normal right ureteric opening. The cystoscope was introduced through the superior vesical fissure, which led directly into the urinary bladder, and the fissure tract was located at the dome of the bladder. The bladder was repaired in two layers, and the rectus muscles were then approximated in the midline. A transurethral catheter was kept in place for five days after the operation, and the patient was discharged home in good condition, voiding normally with urinary continence.

Reconstruction continued in stages. Eight months after the initial repair, the team performed an anterior sagittal anorectoplasty, a procedure known by the abbreviation ASARP, to address the anorectal malformation. Eight months after that, the sigmoidostomy was reversed. At two years of follow-up, recorded in May 2026, the child has shown a favorable outcome: she passes Bristol type 5 stool three to four times a day without soiling, and she is continent for urine.

The authors emphasize that superior vesical fissure is a scarcely reported variant of classical bladder exstrophy, marked embryologically by superior bladder dehiscence without lower tract exposure, accompanied by the musculoskeletal features of exstrophy but with normal external genitalia. They note that it differs embryologically from cloacal membrane rupture theories of exstrophy development. In their discussion, they describe the combination presented in this Ugandan child as an exceptionally rare presentation, featuring vertebral, anal, cardiac, renal, and limb anomalies alongside the bladder fissure. For context, they point out that classic bladder exstrophy itself occurs in roughly 1 in 30,000 to 50,000 births, making any variant of the complex a genuinely rare encounter for pediatric surgeons.

The team is candid about the limits of what a single case can show. The report is restricted by its single-case nature, which limits generalizability, and the two-year follow-up period is relatively short, preventing assessment of long-term outcomes such as urinary continence into adolescence, renal function, musculoskeletal growth, and quality of life. No genetic or molecular studies were performed, which leaves open the question of any etiological link between superior vesical fissure and VACTERL association; the authors suggest that future genetic studies could help elucidate this relationship. The scarcity of published cases, with only about thirty documented globally and none previously associated with VACTERL, restricts comparison and hinders the establishment of standardized management protocols. The authors also note that the case was managed in a resource-limited setting, which may have influenced the diagnostic and therapeutic options available compared with centers offering advanced imaging, genetic testing, and broader subspecialty support.

Despite those constraints, the authors conclude that superior vesical fissure, as a variant of classical bladder exstrophy, is an uncommon anomaly that is surgically manageable, though care of affected children requires multidisciplinary coordination for the associated abnormalities. In this case, successful surgical repair and multidisciplinary care were achieved. To the best of the authors’ knowledge, a combination of superior vesical fissure with VACTERL association has not been described previously in the literature, and they argue that awareness of this variant and its potential associations can help improve the diagnosis and management of similar complex congenital malformations.

Subject of Research: A case report of superior vesical fissure, a rare bladder exstrophy variant, in a Ugandan child with VACTERL association

Article Title: Superior vesical fissure–VACTERL association in a Ugandan child: case report and literature review

Article References: Bilal, H. E., Aleni, C., Mengistab, H. H., Yiga, J., Ssenyondwa, J. B., Akurete, D., Morren, G., Gobet, R., Franchella, A., Ghebrehiwot, M. G., & Boschveld, I. (2026). Superior vesical fissure–VACTERL association in a Ugandan child: case report and literature review. African Journal of Urology, 32(1), Article 73. https://doi.org/10.1186/s12301-026-00619-w

Image Credits: AI Generated

DOI: 10.1186/s12301-026-00619-w

Keywords: superior vesical fissure, bladder exstrophy, VACTERL association, congenital anomalies, pediatric surgery, anorectal malformation, case report, Uganda, exstrophy-epispadias complex, surgical repair, rare disease, developmental dysplasia