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The complete, imperforate transverse vaginal septum is one of the rare anomalies of the female reproductive tract. This anomaly is a disorder of vertical fusion of the Müllerian ducts and can present with or without obstruction. It has been classified as Type IIA as per the American Fertility Society (AFS) classification. Its thickness and site varies in the vaginal canal; the upper and middle third septa are common. The diagnosis can be made in newborns, infants, and adolescent girls. It is found associated with urological anomalies, anorectal malformation (ARM), and bicornuate uterus. We present a case of a 13-year-old girl with hematometrocolpos due to an imperforate complete low vaginal septum, left-sided vesico-ureteric reflux (VUR), and ectopic anus (low ARM).

Background: Constipation is a common problem after surgery for anorectal malformations (ARMs), especially in patients having preserved rectosigmoid after pull-down surgery. Here, we present our experience with patients having constipation after surgery for ARMs and briefly discuss its management. Materials and Methods: We retrospectively reviewed electronic operative and follow-up data from January 2015 to December 2019 of all patients having constipation after surgery for ARMs. Results: A total of 77 patients were included in the study. The median age was 60 months, and thirty patients were male. Primary diagnoses were rectourethral fistula (26; 33.77%), vestibular fistula (25; 32.47%), perineal fistula/ectopic anus (18; 23.38%), rectovaginal fistula (4; 5.19%) and imperforate anus without fistula (4; 5.19%). Anal stenosis was found in 20 (25.97%) patients, posterior ledge with an adequate anal opening in 5 (6.49%), displaced anus in 4 (5.19%) but no obvious problem found in 48 (62.34%) patients. Non-operative management was successful in 75.44% (43 out of 57) of patients. Surgery was performed in 32 out of 77 patients (41.56%) with no mortality. Forty-three (72.88%) patients are continent, stayed clean, but 16 (27.19%) patients still need some sort of laxative/bowel wash/enema intermittently (Grade I/II constipation). Incidence of constipation was higher in patients operated through anterior sagittal route (27.58%) than posterior sagittal route (23.94%), but it was not statistically significant (P = 0.479). Follow-up ranged from 3 months to 5 years. Conclusion: Constipation is a common problem after ARMs surgery, especially in patients having preserved rectosigmoid after pull-down surgery. It is advisable to create relatively larger neoanus after pull through with early practice of neoanus dilatation, especially in redo cases. Repeated counselling, laxatives and dietary manipulations should begin at the first sign of constipation.

Context: While most of the females with anorectal malformations (ARMs) present in either neonatal period or early infancy, a small percentage presents in their adolescence. Aim: The aim is to study the causes of delay in presentation, management, and postoperative outcome in these cases. Settings and Design: This is a retrospective observational study conducted in the Department of Paediatric Surgery, King George's Medical University, Lucknow. Subjects and Methods: Records of females with ARM managed in one unit of the department from 2010 to 2015 were scrutinized. Of these, record of females who primarily presented in adolescence was reviewed. Data regarding the demographics, clinicoradiological presentation, management, postoperative stay, and follow-up were analyzed. Causes for delay in presentation were looked for. Statistical Analysis Used: Statistical analysis used was not required. Results: Out of 627 cases of ARM managed over 5 years, ten girls (5.3%) presented between 12 and 18 years (average 14.4 years). Main reasons for the delay in presentation were misinformation, illiteracy, and poverty. These comprised of anovestibular fistula (n = 5), anterior ectopic anus (n = 3), perineal canal (n = 1), and rectovestibular fistula (n = 1). Three (30%) girls had no problem apart from an abnormal anal orifice. Five (50%) girls had constipation as a major additional symptom. Four cases had a normal to mildly enlarged rectum on contrast study, whereas the rectum was moderately to hugely dilated in the remaining six cases. Six cases were managed with posterior sagittal anorectoplasty while an anterior sagittal anorectoplasty was done in four. Minor wound dehiscence developed in two cases. There was no mortality. In a mean follow-up of 16 months (8–26), constipation and soiling were seen in 5 (50%) girls. The overall outcome in these girls was satisfactory. Conclusion: Presentation of females with ARM in adolescence is not uncommon in the third world. A primary pull through is possible in these girls with mild-to-moderate rectal dilatations. A diverting colostomy before pull through is always a safe option in cases with severely dilated rectum and also otherwise. Moreover, a greater awareness regarding these malformations in the general public is required.

Purpose The aim of this study was to identify the incidence of wound complications after a limited sagittal anorectoplasty for the repair of rectoperineal fistula. Patients and methods Between January 2011 and December 2014, patients with rectoperineal fistula treated primarily by a limited sagittal anorectoplasty were included. The patients in the study were divided into two groups according to the extent of rectal dissection and mobilization during the operation. Results Thirty-six consecutive patients with rectoperineal fistula were included (28 girls and eight boys). Their mean age was 10 months (range 3–42 months). The overall incidence of postoperative wound dehiscence was 22.2% (eight patients). In the first group (limited rectal mobilization), there was a high incidence of wound complications (6/15 patients). Five patients were considered to have a major dehiscence and four required a rescue colostomy. In the second group (extended rectal mobilization, 21 patients), two had minor dehiscence that were managed conservatively. The overall incidence of wound complications was significantly lower in the second group (Mann–Whitney test, P =0.04). Conclusion Among the patients with rectoperineal fistula, extension of the dissection and mobilization of the rectum from the anterior structures (vagina in girls, and bulpospongiosum in boys) decreases wound dehiscence following a limited sagittal anorectoplasty procedure. Keywords : anterior ectopic anus, imperforate anus, low-anorectal anomalies, rectoperineal fistula, sagittal anorectoplasty

Purpose To report on a female patient diagnosed with Currarino’s triad in adulthood. Case report This case presents an adult patient with a medical history of a congenital anal atresia, a partial sacral agenesis, and a surgically treated ectopic anus. After a coincidentally observed presacral mass by MRI, due to unexplained constipation later in adulthood, Currarino’s triad was suspected in this patient. This triad consists of anorectal malformation(s), sacrococcygeal defects and a presacral mass of various origin. Further investigation confirmed the mass to be a meningocele, and showed a tethered cord and a syrinx. Conclusions In (young) patients with anorectal malformations, although having no other symptoms, further examination might be required to exclude Currarino’s triad. Importance of early diagnosis and multidisciplinary assessment is recommended to establish adequate treatment if needed.

Currarino syndrome (CS) is a peculiar form of caudal regression syndrome [also known as autosomal dominant sacral agenesis (OMIM no. 176450)] characterised by (1) partial absence of the sacrum with intact first sacral vertebra, (2) a pre-sacral mass and (3) anorectal anomalies (Currarino triad). We studied a 3-year-old girl with Currarino triad who had additional systemic features and performed array comparative genomic hybridisation to look for chromosomal abnormalities. This girl had the typical spectrum of anomalies of the CS including (a) partial sacral agenesis (hemisacrum with remnants of only sacral S1–S2 vertebrae and a residual S3 vertebral body) associated with complete coccygeal agenesis, (b) pre-intrasacral dermoid, (c) intra-dural lipoma, (d) ectopic anus and (e) tethered cord. She had, in addition, pre- and post-natal growth impairment (

Background. Anorectal malformations (ARMs) are extremely rare and are usually identified neonatally. It is unusual for these cases to present in the postmenopausal period. This case report describes a postmenopausal patient with ARM and rectovaginal hemorrhage.Case. An 86-year-old, gravida 11, para 9, presented to the emergency department complaining of profuse postmenopausal vaginal bleeding. Her gynecologic history was significant only for an unclear history of an anal abnormality that was noted at birth. Speculum examination revealed profuse rectal bleeding from a rectovestibular fistula exterior to her hymenal ring. Colonoscopic examination revealed severe diverticular disease.Conclusion. This patient was born with an imperforate anus which resolved as rectovestibular fistula and ectopic anus. This case presents a rare clinical circumstance which integrates the fields of obstetrics, gynecology, gastroenterology, and embryology alike.

An apparently balanced de novo reciprocal translocation t(5;21) (q13;q22) was demonstrated in a girl with acrobrachycephaly, ventriculomegaly, pulmonary stenosis and anal malformation. The possible relationships between her karyotype and malformations are discussed.

Perineal ectopic anus in female infants is not a very uncommon congenital anorectal anomaly with opening into the low vaginal or vulvar region. However, ectopic anus with barrel gun perineum is a less common variety. Patients generally present with frequent history of constipation, but may seek medical help for just aesthetic reasons. We present here one such case of an asymptomatic seven years old female with the rare form of anterior ectopic anus with barrel gun perineum without any fistulous communications with an innovative method of demonstration of the anomaly by using ultrasound gel as rectal contrast in MRI pelvis.

Ectopic anus is an atypical uncommon variant of broad spectrum of anorectal malformation. We present a case of a 22 day old neonate with anus placed within scrotum. After surgical intervention a neoanus was created within sphincter complex and good functional result was achieved. Patient had urethral injury intraoperatively which was managed by urethrostomy. Subcoronal hypospadias and urethrostomy was corrected in second setting.

A healthy three-month-old boy with an anterior ectopic anus was admitted for an elective anoplasty. He developed a fever and signs of acute cardiorespiratory distress while in hospital on the night before his surgery. He was a full-term baby with no other known congenital anomalies. He was on no medications before admission, but was given an oral laxative for bowel washout in hospital. Although birth weight was at the third percentile, he had been thriving at home and was formula-fed. The infant had no history of upper airway congestion, cough, or infectious contacts. On developmental screening, he appeared normal for his age.

Background/Purpose: Perineal ectopic anus in female infants is not a very uncommon congenital anomaly. The close proximity of the ectopic anus with the vulva and the stenosed opening seen in large majority of cases necessitate some form of surgical correction. A variety of surgical procedures like cutback, posterior anal transposition, PSARP, or ASAPR, with or without diverting colostomy have been described in the literature. However, in dealing with a case of ectopic anus, the authors thought a much simpler surgical correction would suffice giving an aesthetically and functionally acceptable perineum. This new and simple surgical procedure developed by Ashok Shah, Anal Shift is described in this report. Methods: Twelve female infants with anterior ectopic anus, between 3 and 18 months of age who had undergone surgical correction by this new method (Anal Shift) is reported. Five of these children had severe and 2 had mild anal stenosis. The new technique described in detail includes shifting and creation of a new anus in the anatomically normal site and construction of the perineal body. Colostomy was not done in any of them. Results: The cases had been followed up for 12 to 24 months. Anal function was normal with satisfactory vulvo-anal distance without any stenosis. One patient had superficial anterior wound dehiscence; she underwent reoperation with good results. Conclusions: Anal Shift is a simple surgical procedure. It does not necessitate lateral dissection, therefore, the rectal support and the neurovascular supply to the rectum remains undisturbed, eliminating any chance of retraction. The anterior half of the neoanus does not have a suture line, thereby minimizing the chances of stricture formation. Anal Shift appears to be a safe, simple and satisfactory surgical procedure to correct anterior ectopic anus in girls without a colostomy. J Pediatr Surg 38:196-198. Copyright 2003, Elsevier Science (USA). All rights reserved.

Disorders of sex differentiation (DSD) are a heterogeneous and broad spectrum group of diseases with a varied appearance. Presence of an accessory phallus with a phallic urethra in association with a normal vagina in a female is an extremely uncommon anomaly. We present a rare case of a genotypically female child with a normal urethra and vagina in association with a phallus, accessory phallic urethra, perineal lipoma and anterior ectopic anus.

O Tailgut Cyst é um remanescente embriológico do intestino posterior, que pode fazer parte da Síndrome de Currarino. Relato do caso: Paciente feminino, 43 anos com lombalgia, retenção urinária e massa retrorretal. História pregressa de ânus ectópico, constipação associada a megacólon congênito. Exames de imagem evidenciando cisto retrorretal comprimindo o sacro, rechaçando as estruturas pélvicas anteriormente e deformidade sacral congênita. Realizada ressecção em bloco da lesão retrorretal, reto, útero e sacro ao nível de S2. Anátomo-patológico evidenciando tailgut cyst. Caracterizamos a paciente como portadora de síndrome de Currarino. Discusão: A síndrome de Currarino é caracterizada pela malformação anorretal, defeito sacral e massa retrorretal. Tem relação com a mutação do gene HLXB9. O tailgut cyst é um remanescente embriológico do intestino posterior, mais comum em mulher adulto jovem (75-90%). O tailgut cyst relacionado à Síndrome de Currarino é uma lesão incomum. A maioria dos pacientes é assintomática, mas podem apresentar sintomas anorretais, perineais e sacrais. Exames de imagem são úteis para a definição diagnóstica e programação cirúrgica. A excisão cirúrgica completa é recomendada devido ao risco de recorrência, degeneração maligna e infecção crônica, mesmo em pacientes assintomáticos. O prognóstico é incerto. The Tailgut Cyst is an embryological remnant of the hindgut that can be a part of the Currarino Syndrome. Report of a case: A 43-year-old woman with lombalgy, urine retain and presacral mass. Preceding history of ectopic anus, constipation associated with congenital megacolon. Imaging exams indicate retrorectal cyst that compresses the sacral region, receding the pelvic structure forward and congenital sacral deformity. A block resection of the retrorectal, rectal, uterus and sacrum lesion was carried out in a S2 level. Anatomo-pathologic indicate tailgut cyst. The patient is characterized as carrying the Currarino Syndrome. Discussion: The syndrome is characterized by the malformation of the anorectal, sacral abnormalties and retrorectal mass. It has connection with a gene mutation of the HLXB9. The Tailgut Cyst is an embryological remnant of the hindgut, more common in young adult women (75-90%). The tailgut cyst related to the Currarino Syndrome is an uncommom lesion. Most patients are asymptomatic, however, they may present anorectal, perineo and sacrum symptoms. Imaging exams are useful for diagnostic definition and surgery programming. The complete surgery excision is recommended due to the risk of reestablishment, malignant degeneration and chronic infection, even in asymptomatic patients. The prognosis is uncertain.

We report a 4 year old boy in whom the clinical features of craniosynostosis and bilateral absent radii led to a diagnosis of Baller-Gerold syndrome. Additional congenital abnormalities included midface hypoplasia, atrial and ventricular septal defects, right hydronephrosis, partial sacral agenesis, and anterior ectopic anus. Evidence of portal venous hypertension was present from 8 months and a congenital portal venous malformation was discovered at 2 years. This is the first reported case of Baller-Gerold syndrome associated with a congenital portal venous malformation. We discuss the diagnostic confusion between this syndrome and other overlapping malformation syndromes and propose optimal evaluation strategies aimed at clarifying the nosology of these syndromes.

Anorectal Malformation (ARM) and Hirschsprung’s Disease (HD) are common causes of congenital intestinal obstruction in children. Simultaneous occurrence of both conditions is rare. Few have been reported in Europe and Asia, but we have no knowledge so far of such report from Nigeria. We present two patients managed in our centre to highlight the challenges of management of this uncommon coexistence. The first patient was a 5-year-old girl who was referred to us with intestinal obstructive symptoms despite an apparently adequate sized ectopic anus. She had colostomy and rectal biopsy, which confirmed HD. She had corrective surgery performed through a posterior sagittal approach. She did well post operatively. The second patient was a 3-year-old girl who presented with features of intestinal obstruction, had laparatomy and was also referred to us. It was observed in the referral hospital during laparatomy, to have features of HD and rectal atresia intraoperatively. She had colostomy done and rectal biopsy performed at the same time, which confirmed the diagnosis of HD. She had simultaneous correction of both conditions through a posterior sagittal approach. She was in good condition at follow up. It was therefore recommended that a high index of suspicion of HD, should be entertained while managing patients with anorectal malformation.Key words: Anorectal malformation, Hirschsprung’s disease, posterior sagittal approach

Four cases of adult ectopic anus are described. All patients presented with incontinence; in two there was a history of constipation. Electromyography correctly identified the site of the anal sphincters pre-operatively. The anorectum was mobilized and re-routed through the sphincter ring with repair of the perineal body. There was improvement in anal canal pressures on voluntary contraction after operation in all three cases studied. Continence was restored in three patients but results were poor in one patient because of persistent constipation. Severe constipation may be a contra-indication to this procedure.

Anteriorly Placed Rectal Opening in the Perineum “Ectopic Anus” Alexander Bill;R. Johnson;Ralph Foster; Annals of Surgery

The telecanthus-hypospadias syndrome is an X-linked dominant disorder in which affected males have a wide medial canthus (telecanthus) and hypospadias. Other malformations, such as cleft lip and palate, heart anomalies, imperforate or ectopic anus, may also be present. Many affected males are mentally retarded. Carrier females show only telecanthus. We have evaluated two families in which the affected males have a severe expression of the disorder. In Family N. the affected infant had telecanthus, coronal hypospadias, cleft lip and palate, laryngotracheoesophageal cleft and ectopic anus. His mother had marked telecanthus and anosmia. This infant died at six months of age. In Family S. the affected infant had telecanthus bilateral cleft lip and palate and perineal hypospadias. He has normal development at six months of age. His mother has telecanthus, but does not have anosmia. As these two patients demonstrate, the telecanthus hypospadias syndrome can present as a severe multiple malformation syndrome. Fortunately many males are more mildly affected. Since the female carrier has a 25% chance in each pregnancy of having an affected son, early recognition and counselling is very important.