Case Report: Ectopic Anus in the Vaginal Introitus in a 35 year-old Female

Abstract

Background Anorectal malformations (ARM) are common anomalies encountered in pediatric surgery, between 1 in 2000 and 1 in 5000 live births result in an ARM diagnosis. Rarely is an ARM diagnosed after the neonatal period. Many different anorectal defects can occur in females including cloaca, anal atresia, and ectopic anus. Ectopic anus is considered a low anorectal anomaly and most frequently occurs in the perineum and vulva. Case Presentation Our patient is a 35 year-old female with a past medical history of hypothyroidism and congenital pes planus. She presented with a possible fistula from a sexual assault that occurred as a child. She denied any urinary tract infections, dysuria, or dyspareunia. She complained of some fecal incontinence and difficulty achieving intimacy due to feeling “abnormal.” During colonoscopy it was discovered she had a posteriorly located ectopic anus in the vaginal introitus with a normal anorectal ring in the correct more posterior position. MRI confirmed the diagnosis of a fourchette ectopic anus with no other genitourinary abnormalities. Our surgical approach focused on restoring normal anal and vaginal function and appearance. We achieved this through a perineal anoplasty, reconstruction and reinforcement of the posterior vaginal wall with an omental flap, and a Stage 2 neurostimulator. This resulted in a normal-appearing and functional anus and vagina. Discussion Here we present a unique case of a patient with an ARM diagnosed in adulthood. She presented with a history of sexual assault during childhood, fecal incontinence, and difficulty achieving normal sexual function. An MRI confirmed the diagnosis of a vaginal ectopic anus. The patient had no complaints of urinary tract infection or other genitourinary symptoms. ARMs are commonly detected in the neonatal period and are rarely seen during adulthood. Most cases discovered during adulthood happen in resource-limited environments. ARMs should be diagnosed within the first 24 hours of life during neonatal examination. However, in underdeveloped regions, more births may happen at home rather than hospitals thus contributing to inconsistency in healthcare in the immediate neonatal period and may play a role in missing ARM diagnoses.