Anorectal malformation with congenital absence of vagina: a case report and review of the literature

Abstract

Congenital anorectal malformations are relatively common, and associated genitourinary malformations have been reported in up to 40% of patients. Uterovaginal malformations are also not rare in children. They are known to occur with increased frequency in children with anorectal malformations, but the diagnosis may still be difficult. We report herein one such case of anorectal malformation associated with congenital total absence of the vagina in which the uterovaginal malformation was not diagnosed until the operative repair of the anorectal malformation. The operative procedure was thereafter directed, along with the anorectoplasty, towards restoring a functional uterovaginal tract. Review of the literature revealed that such a diagnosis is unsuspected or delayed in more than half of affected patients. Furthermore, these patients present with many diagnostic and therapeutic problems. Our report highlights the need to be aware of this condition to allow for an earlier diagnosis and appropriate operative treatment.

Rectovestibular fistula—rarely recognized associated gynecologic anomalies

“…In the past, hysterectomy was the treatment of choice. Currently, the recommended options are suppression of menses with preservation of the uterus for pregnancy with reproductive assistance, or utero vaginal anastamosis [9]. A report of 18 cases of uterovaginal anastamosis in patients with cervical atresia reported 6 spontaneous pregnancies in 4 patients, and only one required cervical cerclage [24].…”

“…One of our patients presented with cervical agenesis, which is a very rare anomaly occurring in 1:80,000 to 100,000 cases [9]. In the past, hysterectomy was the treatment of choice.…”

“…The treatment modalities used in the 22 cases of vestibular fistula with absent vagina, reported in the literature [3,[6][7][8][9]11,[15][16][17][18], included 8 vaginal replacements with rectum, 3 replacements with sigmoid, 3 successful vaginal mobilization in cases of distal vaginal atresia, 2 replacements with small bowel, and 1 with skin flaps. No information was found related to the vaginal reconstruction in the remaining 5 cases.…”

“…When treated appropriately, these patients have an excellent functional prognosis for bowel and urinary control [1]. In a review of the literature, we found that associated gynecologic defects are rarely mentioned [2][3][4][5][6][7][8][9][10][11].…”

“…Summary of vestibular fistula and absent vagina cases published in the literature[3,[6][7][8][9]11,[15][16][17][18] …”