|Year : 2019 | Volume
| Issue : 3 | Page : 234-236
Complete duplicated hindgut anomaly presenting in adolescence: Six Ostia in perineum
Rishi Nayyar1, Bharti Uppal2, Asuri Krishna3
1 Department of Urology, All India Institute of Medical Sciences, New Delhi, India
2 Department of Obstetrics and Gynecology, All India Institute of Medical Sciences, New Delhi, India
3 Department of Surgical Disciplines, All India Institute of Medical Sciences, New Delhi, India
|Date of Submission||20-Aug-2018|
|Date of Acceptance||29-Sep-2018|
|Date of Web Publication||2-Jul-2019|
Department of Urology, All India Institute of Medical Sciences, New Delhi
Source of Support: None, Conflict of Interest: None
| Abstract|| |
A 17-year-girl presenting with features of intestinal obstruction and managed with colostomy was referred for continuing to pass feces per anus despite a functioning colostomy. She was diagnosed with a rare congenital anomaly with duplication of urethra, bladder, vagina, uterus, anus, and distal colon; all openings close together in the perineum. Excision of the obstructed duplicated colon was done. The anomaly and its features are discussed with review of literature.
|How to cite this article:|
Nayyar R, Uppal B, Krishna A. Complete duplicated hindgut anomaly presenting in adolescence: Six Ostia in perineum. Indian J Urol 2019;35:234-6
| Introduction|| |
Duplication of hindgut manifesting in the form of multiple perineal openings is a very rare congenital anomaly, often associated with caudal neural tube anomalies when it is usually referred to as “Caudal duplication syndrome.” The most common presentation is in the form of bowel involvement leading to features of colonic obstruction, often necessitating surgical management. Here, we report a case of complete hindgut duplication without any other apparent anomalies and two openings each of urinary, genital, and bowel tract all located together in a single introitus. The anomaly and its features are discussed with review of literature.
| Case Report|| |
A 17-year-girl presented with complaints of abdominal distension for 5 days to a peripheral center and managed as subacute intestinal obstruction based on her abdominal X-ray and abdominal ultrasonography findings. Failing resolution by 5th day, she underwent laparotomy and abdominal exploration. Detailed surgical findings of the surgery were not available. There were no preceding bowel or bladder symptoms. At presentation to us, she had a functioning colostomy, while still passing normal stools from the anal opening. On further inquiry, she revealed passing urine and feces in two different streams each since birth, sometimes synchronously together while being asynchronous at other times. There was no urinary/fecal or day/night time incontinence. No recurrent urinary infections were reported. She had normal menstrual cycles, having attained menarche at 13 years of age. Clinical examination confirmed two vaginal and anal openings [Figure 1], with bilateral normal anal tone. The urethral meatus could not be identified. There were no neurological deficits, similar familial history, or any other obvious congenital abnormalities.
|Figure 1: Perineal image showing double vaginal openings (solid line) and anal openings (dashed line) in the introitus. There was a single anterior fourchette but separate underlying clitoral bodies (solid arrow) and bifid labia minora. The anal openings and the single central perineal body (covered with thick keratinized skin) were anteriorly placed nearby the introital opening. There was no posterior fourchette with labia fanning laterally|
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An abdominal magnetic resonance imaging (MRI) [Figure 2] was done confirming complete duplication of urinary, genital, and fecal tract in the sagittal plane.
|Figure 2: Complete duplication of the urethra (U) and urinary bladder (UB) with urethra draining into anterior aspect of ipsilateral hemi-vagina. Complete duplication of vagina (V), cervix and uterus (UT) consistent with uterus didelphys. Complete duplication of anal canal (A), rectum (R) and sigmoid colon with normal internal anal sphincter. Puborectalis and levator ani muscles were thinned out and dysmorphic. There were no spinal anomalies|
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Pan-perineoscopy was performed. Normal hemi-urethra and hemi-bladder were identified on either side draining one ureter each on urethrocystoscopy which was aided by phenazopyridine to color the urine to identify urethral and ureteric openings. Vaginoscopy confirmed uterus didelphys. Colonoscopy from anterior anal orifice showed scope passing till the hepatic flexure and stool present beyond suggesting the likely continuity with proximal bowel. Colonoscopy from posterior orifice ended in an empty blind-ended loop, likely Hartman's pouch. Scopy from colostomy could be negotiated only till the transverse colon with some fecal contents.
Patient and mother were counseled regarding the condition and possibility of normal pregnancy; and therefore, no active interventions were done for urogynecological anomaly except advice for elective cesarean section for childbearing. Laparotomy and complete resection of the colon from ostomy site to its junction with ascending colon at hepatic flexure was done. The closed end of the abnormal rectum was left as such in situ. At 1-year follow-up, the patient remains asymptomatic.
| Discussion|| |
Hindgut duplication anomaly is a complex and rare congenital abnormality which is often grouped as “caudal duplication syndrome” along with anorectal and neural tube malformations. Caudal duplication is a more general all-encompassing term inclusive of cloacal duplication, urogenital duplication, or hindgut duplication. Unlike this case, spinal deformities are commonly associated in such cases. Lower abdominal wall anomalies and bony pelvic anomalies are also relatively common. Such extensive anomalies are proposed to result from an insult to the caudal cell mass and hindgut at approximately the 23–25th day of gestation. Other theories suggest the persistence of the urogenital septum pushing as a wedge forming two urogenital sinuses with the widening of the hindgut. However, not much of credible evidence is available to support them. Whether only hindgut duplication, as seen in this case, should be considered as a separate entity with different etiology or are minor forms of caudal duplication syndrome remains unknown.
Few cases of hindgut duplications have been reported in literature. Cevik et al. have recently reported six earlier similar cases. Most cases of complete urogenital duplication also have gut anomalies and usually present at birth or early childhood with complaints related to hindgut involvement. This case presented late in adolescence without any preceding fecal or urinary symptoms. There was no anatomical obstruction or pathological dilatation at surgery. Histopathological examination of resected colon was also normal. Thus, intestinal obstruction in her case seemed more related to luminal causes rather than pathological etiology. Nonetheless, we had resected the duplicated colon segment.
Unlike the bowel, the management of genitourinary tract in these cases often has to be delayed because the pathological association of the anatomical abnormality in terms of continence or obstruction may not be apparent till the child gains continence or puberty. This case was unique with no such complaints till adulthood and presenting late. Most reported cases had ectopic lateral locations of anal openings, unlike this case which had all six openings located nearby in the perineum. Due to the relative orthotopic position of the openings in this case compared to most other reported cases in literature and no involvement of the neural tube, the girl did not have any obstruction or incontinence of the urinary and fecal pathways. As reported in most such cases, all the duplications in this case also happened to be in the sagittal plane. The objective of treatment in such cases should only be to correct symptoms or functional problems, rather than preemptive restoration of anatomy. The patient and her mother were also made aware about double genital tract and implications; however, keeping in mind, no functional abnormalities and known pregnancies in this situation; it may not always be justifiable to restore genital anatomy in all cases. Additionally in this case, the perineal body separated the two vaginas in distal part, putting it at risk if restoration to a single vagina was considered.
In earlier times, the diagnosis in detail was often confirmed on exploration only, due to limitations of the imaging. However, with the availability of high-quality contrast enhanced computed tomography and MRI, a detailed diagnosis is now possible noninvasively, and surgery may be planned preoperatively allowing discussion of outcomes with the patient.
The treatment for such anomalies cannot be generalized because of the rarity of the disease besides a myriad of presentations with varying degrees of involvement of urological, reproductive, anorectal and spinal-neural tract., Treatment must be individualized and often revolves around fusion of the two components or partial/complete excision of one of the components depending on the presenting symptoms and functional involvement. This case was unique in that the patient was left untreated in childhood and had no complaints till 18 years of age when she presented with obstipation. Excision of the obstructed semi-colon could achieve complete resolution in this case.
| Conclusion|| |
Hindgut duplication anomaly is rare and generally associated with spinal caudal anomalies of varying degrees. Often the presentation is in infancy or early childhood due to bowel affliction. The management of genitourinary involvement depends upon the presenting features of the individual case.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
We would like to thank Dr. VK Bansal, Professor, Department of Surgical Disciplines for his contributions in patient management and surgery.
Financial support and sponsorship: Nil.
Conflicts of interest: There are no conflicts of interest.
| References|| |
Mei JY, Nguyen MT, Raz S. Female caudal duplication syndrome: A surgical case report with 10-year follow-up and review of the literature. Female Pelvic Med Reconstr Surg 2018;24:e16-20.
Dominguez R, Rott J, Castillo M, Pittaluga RR, Corriere JN Jr. Caudal duplication syndrome. Am J Dis Child 1993;147:1048-52.
Cevik M. An unusual complete duplication of the hindgut and urogenital tract: Case report and literature review. Jurnalul Pediatrului 2012;15:72-4.
Goh DW, Davey RB, Dewan PA. Bladder, urethral, and vaginal duplication. J Pediatr Surg 1995;30:125-6.
Hu T, Browning T, Bishop K. Caudal duplication syndrome: Imaging evaluation of a rare entity in an adult patient. Radiol Case Rep 2016;11:11-5.
Matta H, Nawaz A, Jacobsz AW, Al-Salem A. A rare association of urogenital duplication and anorectal malformation. J Pediatr Surg 2002;37:1623-5.
Abdelhalim A, Arab H, Helmy TE, Dawaba ME, Abou-El-Ghar ME, Hafez AT. Cloacal duplication: Single-center experience in the management of a rare anomaly. Urology 2017;108:171-4.
[Figure 1], [Figure 2]