The anomalous clinical anatomy of congenital pouch colon in girls

Background/Purpose The aim of this study was to evaluate the anomalous clinical anatomy of congenital pouch colon (CPC) associated with anorectal agenesis in 22 consecutive girls managed over a study period of 7 years. Methods The 22 patients were categorized into 2 groups. Group A consisted of 10 patients who presented during the neonatal period (n = 9) or as a young infant (n = 1). In these patients, only preliminary assessment results were available. Group B (12 patients) comprised 5 newborns who remained on follow-up and 7 patients who presented after the age of 1 year. These 12 patients were assessed and investigated in more detail. Results In group A patients, apart from absence of the normal anal opening, the appearance of the external genitalia and perineum was essentially normal. Retraction of the labial folds showed radiation of folds inward from the margins of the vulval vestibule toward the center, at a point of confluence located at a higher level. At laparotomy, the subtypes of CPC were type I (n = 4), type II (n = 5), and type III (n = 1). In 8 patients, uterus didelphys was present. In all group B patients, the appearance of the external genitalia was similar to that in group A patients. However, separate openings of the urethra, septate vagina, and vestibular fistula (if present) were visible in 5 patients, whereas in 3 patients, a single perineal opening was identified. A total of 9/12 patients (75%) had urinary incontinence. Examination under anesthesia and endoscopy revealed a septate vagina in all 12 patients and an open, incompetent bladder neck with reduced bladder capacity in the 9 patients with urinary incontinence. The terminal fistula of the colonic pouch opened just distal to the bladder neck (n = 1), just posterior and cephalad to the urethral opening (n = 2), low in the vestibule (n = 5), and undetermined (n = 4). The subtypes of CPC were type I CPC (n = 2), type II CPC (n = 9), and type III CPC (n = 1). All 12 patients had uterus didelphys. Conclusions The characteristics in the anomalous clinical anatomy of CPC in girls, as described here, appear to be almost invariable and, especially in regions where CPC is common, should alert the clinician to the presence of this malformation.