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Background: Atresia ani – the lack of an anal opening – is a rare condition in small animals. In some cases a connection forms between the blind end of the rectum and the skin (rectocutaneous fistula) that allows passage of feces. Only three cases have been found in the exotic mammal literature: two guinea pigs and one rabbit. Case presentation: A 6-month-old female guinea pig was presented for vocalization and difficulties during defecation that started 2 weeks before. During physical examination an imperforate anus and an abnormal opening located ventrally to it were detected. The guinea pig was able to pass very small feces through the abnormal opening with apparent discomfort. Once the stools were produced, the patient would go back to its normal behavior. A type 2 atresia ani combined with a rectocutaneous fistula was diagnosed. Surgical reconstruction of the anal canal preserving the fistula by means of using a pull-through technique to create a nonpainful, ectopic anus was performed. Conclusions and clinical relevance: Surgical treatment of rectocutaneous fistula was effective in the guinea pig of this case report. Future studies including a larger affected population and with long-term follow-up are needed.

Congenital anomalies are not uncommon. Urogenital disorders can be isolated or associated with other malformations, but they are usually misdiagnosed at birth and found in physical examination or as urologic signs at adolescence. This case report presents a rare case of a 3-year-old female patient with multiple malformations including ectopic anus, crossed fused ectopic kidney, vaginal duplication, bladder duplication, and multiple organ malformations. Prenatal diagnosis, a detailed physical examination and early surgical treatment are particularly important for prevention of further complications. In this case report, the surgical approach was performed using the cutback technique for rectovaginal separation among other surgical procedures in order to achieve functionality.

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.

We present a 21-year-old female patient with partial sacral agenesis and faecal incontinence (FI), treated with sacral neuromodulation (SNM). This patient has a polymalformative syndrome. When she was 15, she underwent radical surgery with anal reconstruction for her anterior ectopic anus. She had a St. Mark's incontinence score of 15/24 when being assessed at our centre, with episodes of urge incontinence, soiling and an irregular depositional pattern with liquid stools. This article is protected by copyright. All rights reserved.

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

Anteriorly displaced anus is an anomaly that is debated with regard to its nomenclature, diagnosis and management. To describe MRI anatomy of the anal canal in children with anteriorly displaced anus and its impact on the process of defecation. We prospectively examined ten children (7 girls, 3 boys; age range 7 months to 8 years, mean 3 years) with anteriorly displaced anus between August 2009 and April 2012. Noncontrast MRI examinations were performed on a 1.5-T magnet. T1- and T2-weighted turbo spin-echo images were acquired in axial, sagittal and coronal planes of the pelvis. The anorectal angle and the relative hiatal distance were measured in mid-sagittal images, and compared with those of a control group using the Mann–Whitney test. In children with anteriorly displaced anus, no anatomical abnormality was depicted at the level of the proximal anal canal. However, the distal anal canal was displaced anteriorly, running out its external muscle cuff, which remained un-displaced at the usual site of the anus. This changes the orientation of the central axis of the anal canal by passing across instead of along the fibers of the longitudinal muscle coat. Children with anteriorly displaced anus had a more obtuse anorectal angle (mean 112.1°), which was significantly greater than that of the control group (mean 86.2°). MRI is a valuable tool in studying the anatomy of the anal canal in children with anteriorly displaced anus. The abnormal orientation of the longitudinal muscle across the anal canal can explain the obstructed defecation in these children. Based on this study, it might be of interest to use MRI in studying equivocal cases and children with unexplained constipation.

Congenital H-type fistula is a rare congenital rectourogenital connection with an external anal opening in a normal or ectopic position. A systematic review was done to study the anatomical types of congenital H-type fistula, embryology, clinical presentation, relative gender distribution, associated anomalies, investigative modalities, and recent advances in treatment of these lesions. A PubMed search included H-type anorectal malformation; H-type anorectal malformations; H-type anorectal; and H-type congenital anorectal that gave 9;43;76;26 abstracts, respectively. Relevant studies and cited articles were studied omitting duplicate search. The reported incidence is 0.1–16 % of all anorectal malformation. The H-type anorectal malformation is 2.5–6 times more common in females and usually associated with a normal anus. In males, the anomaly is usually a variant with an ectopic anus or a perineal fistula. Anatomical types include anovestibular; rectovestibular; rectovaginal fistula in females and rectourethral (bulbar, prostatic, bladder neck) and rectovesical fistula in males. Variants identified include H-type fistula with perineal fistula, perineal groove, H-type sinus, H-type canal, and acquired H-type fistula. This review compiles the available literature over last six decades. Various surgical corrective procedures have been described. The high recurrence decreases with a learning curve and experience.

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 (

The spectrum of anorectal malformations (ARM) comprises anal stenosis, ectopic anus, recto-urogenital fistula, persistent cloaca, multisystem VACTERL (VATER associations including cardiac and limb anomalies) associations, and exstrophy of the cloaca (CE). The latter also constitutes the most severe form of the bladder exstrophy epispadias complex. Since recent data revealed that fibroblast growth factor 10 (fgf-10) invalidation in mice resulted in a genetically reproducible urorectal defect, we considered FGF10 a suitable candidate gene for ARM and CE, as the protein seems to be involved in the development of this primary developmental field. A total of 20 patients (ten with ARM and VACTERL association, respectively, and ten with CE) were analysed for genomic mutations in the coding regions and exon-intron boundaries of FGF10. Aside from a common FGF10 variant no deviation from the wild-type sequence could be detected and data obtained is not supportive of FGF10 as a genetic cause of ARMs or CE in the patients investigated. Nonetheless, mutations in possibly further upstream located promoter regions and/or unknown regulatory sequences or non-coding regions cannot be excluded. Furthermore, it cannot be ruled out that other genes involved in the signalling pathway of FGF10 may contribute to the formation of these congenital malformations.

We describe a baby girl of 4,000 g and 55 cm with supernumerary, malformed, and partially duplicated lower limbs, malformed and partially duplicated pelvis, spina bifida, coccygeal dermal sinus, ectopic anus located in the right buttock, duplicated internal genitalia, rectovaginal fistula, ileal atresia, Meckel diverticulum, and various renal system anomalies. We think that this phenotype is a new case of disorganization in humans (DsH) and postulate that this condition constitutes a polytopic defect of the blastogenesis. In this case, the presence of a malformation pattern involving structures in different parts of the body and organs derived from all of the germ layers, suggests that the pathogenetic event most probably occurred during blastogenesis affecting various progenitors fields.

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.

Background/Purpose: The genetic, embryological, and pathogenetic aspects of hindgut development remain poorly understood. Recently, the morphogenetic pathway involving the Sonic hedgehog (Shh) gene has been shown essential to the normal development of many midaxial organs, including the foregut. This study reports genetically based murine models of congenital anorectal malformations (CAM) involving the Shh -responsive transcription factors, Gli2 and Gli3. Its purpose is to show the necessity of these 2 factors to normal hindgut development. Methods: Gli2−/− mutants were generated by a targeted deletion. Gli3−/− mutants are spontaneous mutants involving the Gli3 gene. Gli2−/− Gli3+/− mutants were generated by intercrossing double heterozygotes. Whole-mount midsagittal sections of the embryos were analyzed on embryonic days (E) 11.5 and E13.5. Results: Gli3−/− mutants had anal stenosis and ectopic anus, and Gli2−/− mutants showed imperforate anus and recto-urethral fistula. Gli2−/− Gli3+/− mutants had a cloacal abnormality. Conclusions: The phenotypic abnormalities observed in these mutant mice are identical to the spectrum of human CAM. The severity of the phenotype appears to reflect the gene dose. Gli2 and Gli3 play an important role in the normal development of murine hindgut. The results of this study provide, for the first time, a molecular basis for CAM. J Pediatr Surg 35:227-231. Copyright © 2000 by W.B. Saunders Company.

There are several totally different definitions of the so-called ectopic anus. To determine whether computerized eight-channel manometry helps to define the entity of the ectopic anus, ten patients (nine females) were operated upon for an ectopic anus by the anal transposition technique (perineal pull-through procedure). Besides the software-supported manometric data, the qualitative imaging analysis was of interest. We calculated the factor by which the pressure of the three ventrally-located segments was lower than the mean segmental pressure at this part of the anal canal. The results were compared to standard age-related values established in a former study in 100 children. Besides pre- and postoperative manometry, barium roentgenograms were obtained. The anal-canal length at rest in the ectopic anus was significantly (P < 0.0001) longer. The segmental asymmetry index in the lower anal canal (LAC) was increased, but not significantly. The pressure in the ventral segments of the LAC was significantly (P < 0.0001) decreased and was less than one-half of the mean segmental pressure in this zone. We found a significant correlation between the degree of anterior displacement and the factor by which the ventrally-located pressure values were decreased. Postoperatively, this factor increased significantly. From a functional point of view, the definition of the ectopic anus includes a deficient high-pressure zone ventrally in the LAC. The LAC seems to run out or nearly out of the ventral sphincteric issue to end ectopically on the perineal surface.

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.

Purpose: The aim of the current study was to bring to notice the anterior displacement of the anus and to recommend the measurement of anal position index in the neonate by a modified method. Methods: Sixty newborns (34 girls and 26 boys) were taken into study, and the anal position index (API), which is the ratio of anus-fourchette (scrotum) distance to coccyx fourchette (scrotum) distance, was measured. To obtain the measurement, a transparent adhesive tape was placed along the midline on the long axis, covering the anus. The upper and lower tips and the center of the anal circle was marked and measured using a caliber. Results: API was found as 0.46 (SD ± 0.08) and 0.53 (SD ± 0.05) in female and male neonates, respectively. Because an index of 0.34 in girls and 0.46 in boys are considered abnormal, the 3 female babies in the study group with API indices of 0.18, 0.28, and 0.33 were subjected to further examination. The abnormality was seen not to be rare in the Aegean region. Conclusions: An abnormal index alone cannot be the sole cause of constipation mentioned in the literature and therefore not an indication for operation. Anal position index in the neonates could be measured more accurately by the current modified method. If an anterior location of the anus is found early in infancy the baby should undergo follow-up accordingly. J Pediatr Surg 37:80-82. Copyright © 2002 by W.B. Saunders Company.

We report 5 newborns with a contracted lesser pelvis, imperforate anus (severely stenotic and ectopic anus in 1 case), absent or rudimentary urinary tract, and defective or absent external genitalia, vagina, and uterus but normal gonads. The first 2 patients had small pelvic outlet syndrome (SPOS). The findings in the third patient, a possible transition to sirenomelia, were more severe and included malposition of the penis to the posterior sacral area. The fourth and fifth patients had sirenomelia. The remarkable similarity of many abnormalities observed in these cases and related material in the literature suggests that SPOS and sirenomelia may be part of the same malformation complex (SPOS/sirenomelia complex).

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.

Different criteria have been used in literature to describe the anterior ectopic anus (AEA) anomaly, resulting in uncertainty over its prevalence, association with constipation and definition of the indications for surgery. It has been recently proposed that the term AEA should be restricted to anomalies in which a normal appearing anal orifice is located in the perineum in a more anterior location than normal, with an anal canal of normal calibre that is shown by electrical stimulation to be surrounded by the voluntary external anal sphincter (EAS). We report about four infants, three females and one male, who presented with constipation and had an anteriorly located anal orifice of normal calibre. The anal position index measured clinically was less than 0.34 in all the female patients and 0.44 in the male patient. In preoperative magnetic resonance imaging (MRI), the EAS was distributed all around the circumference of the anal canal, including the ventral aspect of the anal canal, in all the patients. Preoperative MRI documentation of sphincter distribution is recommended for the diagnosis of AEA, as it would help in better definition of its association with constipation and the results of surgical management.

Background: The purpose of this study was to determine the normal position of anus using anal position index (API) and the modified measurement method and also to emphasize the importance of ectopic anus. Methods: This cross-sectional study was performed on 400 neonates, equally boys and girls, who were all full term and delivered without any malformations. Anal position index, which is the ratio of anus-fourschette distance in girls and anus-scrotum distance in boys to the distance between coccyx and fourschette/scrotum, was calculated in all cases. To make correct measurements, transparent adhesive tape was used longitudinally on midperinum in a way that it covered the anus. Then fourschette/scrotum, anus center, and the lower margin of coccyx were marked on it. Distances marked on each tape were then measured with the standard ruler. Results: Mean±SD of API in girls was 0.45±0.005 (95%CI: 0.44-0.46) and in boys was 0.54±0.005 (95% CI: 0. 53-0.55). Mean±2SD was considered as the normal range for an anus position. Six female and five male neonates who had abnormal APIs were put through more investigations. Conclusion: Our findings suggest a simple method for determination of normal position of anus in children; especially those who referred for chronic constipation. API can never be considered as the sole indication for the surgical intervention.

Currarino triad is a rare hereditary disease. The complete form is characterized by the presence of an anorectal malformation, usually anorectal stenosis, a presacral mass and sacral bony defect. The main symptom is the presence of constipation since early life. In over 80 % of cases, the syndrome is diagnosed during the first decade of life. We report on three patients, members of the same family, with the complete form of the syndrome. The main symptom in our patients was intense constipation and the common clinical finding was an ectopic and stenotic anus. In two of them, father and son, the presacral masses were not diagnosed at the time of previous unsuccessful operations in another hospital for correction of the ectopic anus. In the third patient, Currarino syndrome was associated with Hirschsprung's disease. This has not been described previously. Two of the three patients who were admitted in our institution for simultaneous excision of the presacral mass and correction of the anorectal malformation through a posterior midsagittal coccygo-perineal approach, are free of symptoms. To the authors' knowledge, this is the second report of complete Currarino triad in all affected members of the same family.

Anterior displacement of the anus (ADA), otherwise known as "anterior ectopic anus," is considered to be a common congenital abnormality of anorectal region. However, the true incidence of this condition is not well known. We evaluated the incidence of ADA and its relationship to constipation in 357 children (191 boys and 166 girls) who were admitted to our hospital with unrelated disorders. For this purpose, the anal index was defined as the ratio of the scroto-anal distance to the scroto-coccygeal distance in boys, and as the ratio of the fourchette-anal distance to the fourchette-coccygeal distance in girls. An anal index of less than 0.34 in girls and less than 0.46 in boys was determined to be an ADA. The incidence of ADA was 43.4% in girls and 24.6% in boys (P < 0.01). However, the incidence of constipation in children with a normal anal index and those with a low anal index indicative of an ADA was not significantly different. These findings suggest that ADA is a common variant of the normal anatomical location of the anus, especially in girls.

A female patient of 26 years of age with faecal incontinence is presented. The anal opening was anteriorly located just posterior to the vagina. This had resulted in overflow faecal incontinence due to severe chronic constipation. NMR showed a normal musculature of the pelvic floor and sphincter. Since the patient did not agree to surgery, laparoscopic cecostomy was performed for the first time for antegrade rinsing.

A 25-year-old nulliparous woman with adult onset constipation and slight anterior displacement of the anus underwent pelvic magnetic resonance imaging and was diagnosed with congenital hemiabsence of the levator ani sling. Impaired defecation was confirmed by anorectal function studies and defecography demonstrated an anterior rectocele, perineal descent at the upper limit of normal, and partial obstruction of defecation, which appeared related to the levator sling abnormality. To our knowledge, this combination of findings has not been previously described as a cause of adult onset constipation.

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.

WOS: A1996VM28500033 PubMed: 8906688 A case of a gluteus-localized ectopic anus on the right side is described. A P-month-old boy had a severe sacral anomaly with atrophy of the right lower extremity and a pes equinus deformity. Transcutaneous muscle stimulation showed a well-developed muscle complex, and parasagittal muscle fibers have been localized obliquely. Although he has severe sacral anomalies, the posterior sagittal anorectoplasty procedure could be performed. This unique case provides a good demonstration of not only the ectopically localized anus but also the ectopically localized muscle complex. Copyright (C) 1996 by W.B. Saunders Company

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

The purpose of this study was to determine by MR imaging the prevalence and types of dysraphic abnormalities of the spinal cord (i.e., myelodysplasias) associated with urogenital and anorectal malformations of childhood.Since 1987, 92 patients with imperforate anus complex, cloacal malformation, and cloacal exstrophy have had MR imaging as a screening examination for occult dysraphic myelodysplasia. The prevalence and types of myelodysplasia were determined for each group.The prevalence of dysraphic myelodysplasia in each group of children was 17% (1/6) for low imperforate anus (ectopic anus), 34% (11/32) for high imperforate anus (with fistulization), 46% (19/41) for cloacal malformation, and 100% (13/13) for cloacal exstrophy. The most common abnormalities in each group were tethered cord with intradural or filar lipoma in imperforate anus; low-placed or dysplastic conus medullaris and tethered cord with lipoma or myelolipoma in cloacal malformation; and lipomyelocele, lipomyelomeningocele, or lipomyelocystocele in cloacal exstrophy.Our results show that the prevalence of myelodysplasia as seen on MR imaging is high in patients with urogenital and anorectal anomalies.

Craniosynostosis is known to be associated with a large number of inherited disorders of childhood. Its presence along with absent thumbs and ectopic anus is the characteristic feature of one such extremely rare disorder, described as the Baller Gerold syndrome. The typical features are being reported here.

For the past several years an increasing number of children with either isolated or multiple congenital anomalies have been admitted at the Intensive Care Unit of the University Children's Hospital in Skopje. This kind of patients always poses a challenge to our team regarding the maintainingof stable vital functions, aswell as the genetic diagnosis and counseling in order to predict subsequent healthy descendant in such families. The on-time recognition, diagnosis and early proper treatment directly affects the survival rate in this group of vulnerable newborns and extends their possibilities of better quality of life as well. We are reporting a case of uncommonly seen association of esophageal atresia with tracheoesophageal fistula along with urogenital sinus, anal atresia and ectopic anus that drains into the sinus (cloaca).

Embryologically a fistula in an anorectal malformation can be regarded as an ectopic anus. Since 1984 the so-called fistula has been saved and used as the new anal canal in the surgical reconstruction of 48 patients with high or intermediate imperforate anus. A positive rectoanal inhibitory reflex indicating internal sphincter function was recorded in 32 of 43 patients investigated with anorectal manometry. These patients showed significantly better anal continence. It is concluded that there is an internal sphincter "anlage" in the fistulous connection from the bowel to the urogenital tract. Internal sphincter function can be obtained in the majority of the patients, which seems advantageous for their anal function.

A method of posterior transposition of anterior ectopic anus is described in which the ectopic anus is incorporated in one flap of a Z-plasty. When the flaps are transposed the anus is brought into its normal anatomical position with the added advantages that the mucocutaneous junction and part of the innervation and the blood supply are preserved. The results of 24 girls treated with this technique are presented. In spite of a high incidence of sepsis resulting from less than ideal operative conditions, the repair remained intact.

Anterior displacement of a normal anus is recognized as a cause of severe constipation in some children. We have reviewed our experience with 13 children treated for this disorder over the past 8 years at the University of Virginia Health Sciences Center. Twelve of the patients were female and the age at the time of operation ranged between 12 months and 9 years. In all patients constipation began in the first 3 to 6 months of life. Symptoms were characterized by marked straining upon passage of stool, often accompanied by perineal pain. All patients had been unsuccessfully treated with agressive use of stool softeners and cathartics. The anus had a normal appearance, although it was located anterior to its normal position in every case. There was no evidence of anal stenosis on digital examination; in each case a large posterior rectal cul-de-sac could be palpated. A barium enema examination disclosed a prominent posterior shelf of the rectum, often with enormous dilation of the colon posteriorly. All patients underwent surgical treatment using a posterior anoplasty with advancement of the posterior rectal wall. In 10 patients a posterior rectal myomectomy was added to the procedure. Pathologic evaluation of the rectal muscle was normal in each instance. Complete relief of constipation was achieved in all patients, with follow-up extending for as long as 6 years. One patient continues to require occasional use of stool softeners. Anterior displacement of the anus is a frequently overlooked, although easily corrected, cause of severe constipation in childhood.

In our experience, anterior ectopic anus (AEA) is a common cause of constipation in children. We have performed 54 anoplasties for AEA in the past 8 years. Seventy-eight percent of the patients were girls. The average age at surgery was 23.8 months and the average stool frequency prior to surgery was once every 3.2 days. Eighty percent of the children had undergone attempts at medical therapy. We compared the functional results of anoplasty in children by age. The children who had surgery prior to the age of 6 months had a significantly better outcome than did older children. These data suggest that patients with AEA have a better response to operative therapy when anoplasty is performed prior to 6 months of age. Early recognition, referral, and surgery is appropriate therapy in this patient group.

We report two cases of sequestration of a segment of intestinal mucosa in the perineal area. In one patient this was associated with a mildly ectopic anus. No abnormalities were identified in the bladder, urethra, vagina, or rectum. The lesions were treated by excision following complete anatomical mapping.

Slight anterior displacement of the anus is a common developmental abnormality that represents the mild end of the imperforate anus spectrum. This malformation is a common cause of constipation. This type of constipation can be cured by posterior anoplasty. An experience is described in 134 cases who were operated upon from 1960 through 1977.

The knowledge of sphincter anatomy in anorectal malformations is still inadequate and contradictory. There-fore, morphologic investigations were carried out in 33 neonatal piglets with congenital anal atresias. Of the 24 male animals 12 had high anomalies with a rectourethral fistula. The remaining 12 piglets had low anomalies; in nine cases we were able to demonstrate an anocutaneous fistula. Of the nine female animals, six had high anomalies with a rectovaginal fistula. The three female piglets with low anomalies had an anovestibular or an anocutaneous fistula. In all animals we could demonstrate a normal internal sphincter, which surrounded the proximal part of the fistulae. The position of the internal sphincter there-fore depended on the localization of the fistula orifice into the rectal pouch. This differed greatly. The form of the internal sphincter also differed greatly. Sometimes the muscle had the form of a tube or an acute-angled funnel as in healthy piglets. However, mostly the internal sphincter was spread out wide and had the form of a disc or a flat dish. The proximal region of the fistulae in anal atresias has most features of a normal anal opening: (1) it is surrounded by an internal sphincter, (2) the rectal pouch in the region of the internal sphincter as well as the fistulae are hypoganlionotic, (3) the proximal fistula region is lined by transitional epithelium, and (4) it contains anal glands. We, therefore, consider that the fistula should be designated as an ectopic anal canal. The most important result was the demonstration of a normal internal sphincter even in high and intermediate anomalies of anal atresias. Better postoperative results with regard to continence in high and intermediate anomalies can be attained if this most important sphincter muscle, which is ignored in anal atresias, is integrated in a surgical concept.

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.