Riñón pélvico fusionado con uréter único, hidrometrocolpos y ano imperforado: conjunción de malformaciones infrecuentes en una adolescente / Pancake kidney with a single ureter, hydrometrocolpos, and imperforate anus: a set of uncommon malformations in a female adolescent

Una niña de 11 años de edad con antecedentes de ano imperforado, infección urinaria y episodios de constipación intermitentes se presentó a la consulta con cólicos abdominales y náuseas de una semana de evolución. Estudios radiológicos revelaron hidrometrocolpos y fusión renal pélvica con uréter único hidronefrótico. El examen vaginal evidenció un tabique transverso no permeable. Se evacuó temporalmente la colección con resolución de los síntomas. La paciente fue programada para cirugía vaginal reconstructiva definitiva. Se destaca en este caso no solo la asociación de malformaciones infrecuentes, sino una sintomatología muy común en la práctica pediátrica a causa de una patología rara vez considerada en el diagnóstico diferencial, y la importancia de una evaluación precoz y completa de este tipo de malformaciones para un tratamiento oportuno.

An 11-year-old girl with a history of imperforate anus, urinary tract infection, and intermittent episodes of constipation presented with abdominal pain and nausea for 1 week. The x-rays revealed hydrometrocolpos and fused pelvic kidney with a single hydronephrotic ureter. The vaginal examination revealed a non-permeable transverse vaginal septum. The collection was temporarily drained and symptoms resolved. The patient was scheduled for definitive vaginal reconstructive surgery. In this case, it is worth noting the association of infrequent malformations and also the signs and symptoms very common in pediatric practice due to a pathology rarely considered in the differential diagnosis, and the importance of an early and complete assessment of this type of malformations for a timely treatment.

Atresia anal com fístula retovaginal em ovino: relato de caso / Anal Atresia with rectovaginal fistula in sheep: case report

A atresia anal com fístula retovaginal, é considerada uma afecção congênita rara nos ovinos. Em virtude disso, buscou-se descrever o reparo cirúrgico e cuidados pós-operatórios em uma borrega que apresentava essa afecção. Nesse sentido, uma borrega, sem raça definida, de 25 dias de idade e pesando 7,2kg, apresentou sinais de distensão abdominal e defecação pela vulva. A afecção foi diagnosticada por meio do exame clínico e confirmada radiograficamente, constatando-se atresia anal do tipo III em associação com a fístula.(AU)

Atresia ani associated with rectovaginal fistula is considered a rare congenital anomaly in sheep. Therefore, the surgical correction and post-operative care of a lamb presenting atresia ani with rectovaginal fistula has been detailed in this case report. A 25-days old, mixed breed lamb, weighing 7.2 kg, showing signs of abdominal bloating, and stool passage through the vulva was admitted at our hospital. An atresia ani type III condition associated with rectovaginal fistula was diagnosed by clinical examination and confirmed by radiographic examination.(AU)

Asociación de fistula rectovaginal congénita con ano normal (Fístulas Tipo H) y atresia rectal en una paciente. Reporte de un caso y breve revisión de la literatura / Congenital recto-vaginal fistula associated with a normal anus (type H fistula) and rectal atresia in a patient. Report of a case and a brief revision of the literature.

Las malformaciones ano-rectales del tipo de fístulas recto-urogenitales congénitas con ano normal y atresia rectal son anomalías poco frecuentes. Se discute el caso de una niña con la asociación de estas dos entidades, acompañada además de una vagina doble, quien fue llevada a la consulta a los siete días de vida por la expulsión de heces a través de los genitales. Las malformaciones fueron corregidas a través de un abordaje sagital posterior, con descenso del recto hasta el ano sin disección perineal. El tabique vaginal fue resecado a través de la vulva. En la actualidad no hay evidencia de recurrencia de la fístula recto-vaginal.

Congenital recto-urogenital type fistulas with a normal anus and rectal atresia, represent both anorectal malformations that are infrequently seen in clinical practice. We describe the case of a girl with an association of these two anomalies, together with a double vagina who, on her seventh day of life, expelled feces through her genitals. The malformations were corrected by means of a posterior sagittal approach, descending from the rectum to the anus without perineal dissection. The vaginal septum was resected thru the vulva. There is no evidence of recurrence of the recto-vaginal fistula.

Epididymitis in Patients with Anorectal Malformations: A Cause for Urologic Concern

Introduction Epididymitis in patients with anorectal malformation (ARM) represents a unique problem because unlike the general population, an underlying urinary tract problem is frequently identified. We review our experience with epididymitis in ARM population with an emphasis on examining urologic outcomes. Materials and Methods We performed a retrospective review of male patients with ARM cared for from 1980 to 2010. Clinical and pathologic variables recorded included age at presentation, recurrence, associated urologic anomalies, incidence of ureteral fusion with mesonephric ductal structures, glomerular filtration rate and urodynamic parameters. Results Twenty-six patients were identified with documented episodes of epididymitis. Renal injury was noted in five patients (19%), all of whom were diagnosed with neurogenic bladder (NGB) several years after anorectoplasty. NGB was found in ten patients (38%) in our series. Ectopic insertion of ureter into a mesonephric ductal structure was discovered in five patients (19%). Twelve patients (46%) had recurrent episodes of epididymitis, with seven of these patients (58%) being diagnosed with NGB. Two patients in the pubertal group presented with a history of epididymitis and complained of ejaculatory pain. Conclusion Epididymitis in a patient with ARM warrants a comprehensive urologic investigation, particularly in recurrent episodes. Attempts at surgical intervention (e.g. vasectomy) should be avoided until functional assessment of the urinary tract has occurred. Failure to recognize this association may lead to potentially avoidable complications and morbidity. Long term urological follow up of these patients is warranted to identify at risk patients and minimize renal deterioration .

A rare case of perineal hamartoma associated with cryptorchidism and imperforate anus: case report / Caso raro de hamartoma perineal associado a criptorquidia e ânus imperfurado: relato de caso

A full-term male neonate with anorectal anomaly and external perineal anomalies was referred to our service. Physical examination showed an epithelized perineal mass with cutaneous orifices, which had urine fistulization, hipotrofic perineal musculature, bilateral congenital clubfoot, hipospadic urethra, criptorquidy bilateral with nonpalpable testis and imperforate anus. A colostomy was constructed immediately after birth. The child underwent excision of perineal mass, bilateral orchidopexy, Duplay neourethroplasty and coloanal anastomosis at 3 months of age. The histopathological examination of the perineal mass revealed a hamartoma.

Recém-nascido a termo do sexo masculino encaminhado ao nosso serviço por anomalia anorretal e anomalias perineais externas. O exame físico revelou massa perineal epitelizada, com orifícios cutâneos que apresentavam saída de urina, musculatura perineal hipotrófica, pé torto congênito bilateral, uretra hipospádica, criptorquidia bilateral com testículos não palpáveis e ânus imperfurado. Logo após o nascimento, o paciente foi submetido à colostomia. Aos 3 meses de idade, a criança foi submetida à excisão da massa perineal, orquidopexia bilateral, neouretroplastia a Duplay e anastomose coloanal. A análise anatomopatológica da massa perineal indicou hamartoma.

Anterior saggital anorectoplasty; the treatment of anorectal malformations in female children

Anorectal malformation is the common congenital malformation. Ectopic anus and vestibular fistula are Intermediate types of anorectal malformations [ARM], which are the most common in female babies. Many surgical procedures have been described for the treatment of ARM. Anterior Saggital Anorectoplasty [ASARP] is not only convenient for the anesthetist for maintenance of anesthesia but also gives better exposure of surgical structures during surgery. To determine the technical suitability and outcome of ASARP in intermediate types of ARM in female children. This Descriptive study with prospective collection of data according to a set protocol. The study was carried out at the department of Pediatric Surgery, Military Hospital, Rawalpindi, Pakistan. November 2010 to March 2014, over the period of 3 years and 5 months. The data of all female patients presenting with intermediate types of ARM and undergoing ASARP, during the study period were analyzed, with respect to age, type, associated anomalies, complications and cosmetic outcome. A total of 36 patients of intermediate variety underwent ASARP. Age ranged from 6 months to 22 years. All patients had colostomy prior to this procedure. During surgery, posterior vaginal wall tear occurred in 2 patients [5.5%]. Postoperatively, 2 patients [5.5%] had retention of urine, 2 patients [5.5%] developed wound infection with superficial disruption, anal stenosis occurred in 2 patients [5.5%] and 1 patient [2.7%] had rectal mucosa prolapse. None of them required re_ do surgery. Cosmetic outcome was excellent in 31 patients [86.1%], while it was satisfactory in 5 [13.8%] patients. Anorectoplasty through anterior approach is not only technically easy but has good cosmetic results in intermediate type of imperforate anus in female children

Health-related quality of life in children and adolescents undergoing surgery for Hirschsprung´s disease and anorectal malformations / Calidad de vida relacionada con la salud en niños y adolescentes con cirugía de enfermedad de Hirschsprung y malformaciones anorrectales

Purpose. The objective was to describe health related quality of life (HRQoL) after surgery for Hirschsprung's disease (HD) and anorectal malformations (ARMs) in children according to their own perception and that of their parents, by different age groups, the presence of functional disorders, and diet indication. Methods. This is a cross-sectional descriptive study. Participants were patients aged 2-18 years old and their parents. The study was conducted from June 2008 to May 2009. The instrument used was the PedsQL TM 4.0. Data were analyzed with SPSS version 11.5. Results. A total of 93 families gave their consent to participate. Higher scores indicated a better HRQoL. Parents showed a trend towards obtaining higher scores in the three scales analyzed. There were no differences observed in the various age groups. The lowest scores were obtained in incontinent, pseudo-incontinent and constipated patients with statistically significant differences according to the parents´ reports when compared to the patients who had no functional disorders. When analyzing dietary therapy, patients who were on a controlled protein and low sodium diet together with a suitable intestinal function obtained lower scores. Conclusion. The presence of postoperative functional disorders had a negative impact on the scores. Incontinent, pseudo-incontinent and constipated patients had the lowest scores, as well as those who had a stricter diet.

Introducción/Objetivos. Los resultados postoperatorios de la enfermedad de Hirschsprung y malformaciones anorrectales son satisfactorios, pero muchos pacientes mantienen disfunciones intestinales. Estudiar la calidad de vida relacionada con la salud facilita el conocimiento del estado de salud y mejora la elección de estrategias de tratamiento. Los objetivos del estudio fueron describir la CVRS en niños luego de la cirugía correctora definitiva, según su propia percepción y la de sus padres. A su vez, evaluar la calidad de vida relacionada con la salud según grupo etario, presencia de trastornos funcionales postoperatorios y la indicación dietoterápica. Materiales y métodos. Estudio descriptivo, transversal. Participaron niños de 2-18 años y sus padres al concurrir al consultorio en el período de junio 2008-mayo 2009. Una vez obtenidos el consentimiento y asentimiento informado se aplicó el cuestionario genérico PedsQLtm. Paquete estadístico SPSS11.5. Resultados. Participaron 93 pacientes, 32% con enfermedad de Hirschsprung y 68% con malformaciones anorrectales. La mediana de edad fue de 7 años (intervalo 2-18). Puntuaciones más altas indican mejor calidad de vida. Los padres obtuvieron puntuaciones superiores a las de los niños en todas las escalas analizadas. No se observaron diferencias según los distintos grupos etarios. Se obtuvieron puntuaciones más bajas, con diferencias estadísticamente significativas según los padres, en los pacientes incontinentes y constipados. Resultados similares se observaron en pacientes con indicación dietoterápica, especialmente las dietas adecuadas a patologías renal y digestiva. Las puntuaciones más bajas se encontraron en los dominios total y psicosocial. Conclusión. La presencia de incontinencia y constipación repercute negativamente sobre la calidad de vida de los niños, así como la realización de dietas con las puntuaciones más bajas cuanto más restrictivas son aquéllas.

Medical and surgical management of fecal incontinence after repair of high imperforate anus anomalies

To report the medical and surgical management of fecal incontinence in children after repair of high imperforate anus. Thirty-seven children with fecal incontinence post repair of high imperforate anus were recruited between January 2000 and July 2007 at Aseer General Hospital, Abha, and Alhada Military Hospital, Taif, Kingdom of Saudi Arabia. The decision for surgery [dynamic graciloplasty] was based on the degree of incontinence and failure to respond to medical treatment. Five children were operated from the start according to the input of history, examination, and investigations [incontinence score of 15-20]. The remaining 32 patients were treated medically. Those cases that failed to respond to medical treatment had alternatively biofeedback therapy. Cases that failed to respond to biofeedback therapy underwent surgery. Response to medical treatment is favorable [71%]. Biofeedback showed discouraging results [22%] Dynamic graciloplasty showed excellent outcome [100% improvement in continence on long term follow up]. Based on history, examination, and investigations, recruited cases were primarily treated medically; those who had failed the medical treatment approach had dynamic graciloplasty, which demonstrated excellent results during the 1 -7 years follow-up period

Wind sock deformity in rectal atresia

Rectal atresia is a rare anorectal deformity. It usually presents with neonatal obstruction and it is often a complete membrane or severe stenosis. Windsock deformity has not been reported in rectal atresia especially, having been missed for 2 years. A 2-year-old girl reported only a severe constipation despite having a 1.5-cm anal canal in rectal examination with scanty discharge. She underwent loop colostomy and loopogram, which showed a wind sock deformity of rectum with mega colon. The patient underwent abdominoperineal pull-through with good result and follow-up. This is the first case of the wind sock deformity in rectal atresia being reported after 2 years of age

Congenital lower intestinal tract anomalies: review of surgical management of 50 Iraqi patients in Al-Najaf City

Congenital lower intestinal tract anomalies are significant cause of morbidity and mortality in children, classified in two groups, major one is anorectal malformation, other one Hirchsprung's disease, usually associated with other anomalies and should be treated as early as possible. To show the prevalence and our experience with congenital lower intestinal tract anomalies in AL-Najaf city. A total 50 patients had various types of congenital lower intestinal tract anomalies, 22 of them high types [anorectal] treated by 3 stages operations[preliminary colostomy, nearly new definitive surgery infracoccygeal approach and closure colostomy], minor surgery for low types [12] and for Hirchsprung's disease treated by usual pull through operation[Swenson's]. The anorectal anomalies [A.R.M] are the most common anomalies of lower intestinal tract, high type cases were 25, low type were 12 cases and Hirchsprung's disease were13 cases. Male were 30 cases and female were 20 cases, age of presentation between first day of life and 18 years of life. Infracoccygeal approach was the safe and non complicated operation in dealing with high type of anorectal malformation and the good results obtained when the operation was done early period of life [around one year]

Timely versus delayed operation in infants with correctable congential anomalies: a surgery in Isfahan, 2000-2001

Unless performing a timely and appropriate correction, congenital anomalies can conduce to irrecoverable complications. There are different reasons for delay in referring such patients to physician for surgery. By understanding these considerations, we can make an effective approach to reduce the severity of this problem in our community and this is the aim of our study. In a cross sectional study, all 359 eligible cases [neonates and infants suffered from a correctable anomaly which were referred to our centers] and 110 physicians were included for a period of 15 months [2000-2001]. Two main hospitals in our city were set as the data collection centers [Al-Zahra]. Parents' views were extracted by interview. Physicians' knowledge about study subject was assessed by self administered MCQs. In this study 65 percent of all cases who were operated on had been taken to hospital with delay [male to female ratio was 4:1]. Among the cases who received delayed surgical treatment, inguinal hernia was the most prevalent one [39 percent]. Surgery in 32 percent of cases who had delay in their operation caused some degrees of complications. Physicians' misadvise [42 percent], economic problems [25 percent], and hospital terror [17 percent] were accounted as the most prevalent reasons for delayed referrals. Physicians' knowledge about the correctable congenital anomalies in infants was estimated very poor [3 score from 10]. Delay to refer for operation in correctable congenital anomalies is an important dilemma in our community. Public education and also health professional education about this matter can play an admissible role improving the situation. Also, it is needed to make decisions for improving assurance supports in such cases

Ischiopagus tripus conjoined twins: a case report

Conjoined twins are one of the rarest congenital anomalies. We present a case of Ischiopagus tripus conjoined twins. The twins were fused at abdomen and pelvis, having two well formed lower limbs and one abnormal lower limb. There was only a single fused pelvis and only one set of well formed male external genitalia and absent anal opening. Anoplasty was done for imperforate anus and later on surgical separation attempted

Ano-rectal malformations

OBJECTIVE: To assess the type of anorectal anomalies among the patients presenting to us and to compare our results with other published series. DESIGN: Retrospective study. PERIOD: July 1995 to December 2001. SETTING: Department of Paediatric Surgery, Allied Hospital, Faisalabad. PATIENTS AND METHODS: All patients presenting to the Department of Paediatric Surgery, Allied Hospital, Faisalabad for management of anorectal anomalies were included in the study. The patients presented either for the initial management, for the definitive procedure, colostomy closure or management of complications. A total of 365 patients were managed during the study period. Of these 265 patients presented for the initial management. The majority [60.37%] came within 72 hours. M:F ratio was 1.85: 1. High and intermediate anomalies constituted 56.1%. Initially Colostomy was done in 160 cases and Anoplasty/ Cut Back in 93. Of the 160 patients in whom an initial colostomy was performed to date only 43 have had the definitive procedure done. Posterior Sagittal Anorectoplasty [PSARP] was done in 30 cases and Anterior Sagittal Anorectoplasty [ASARP] in 11 cases. Colostomy closure was done in 27 patients. Among postoperative complications wound infection was the commonest. Continence rate on follow up is within the acceptable range. Recorded mortality was low but we noted a significant percentage of hidden' mortality. Colostomy performed in patients with anorectal malformations is a major cause of the 'hidden' mortality associated with the management of this condition. Proper care of the colostomy needs to be achieved to reduce this

Factors affecting the functional results after surgical repair of ectopic vestibular anus

It has reported that 1/5000 newborn will have an anorectal malformation. Some 65 to 80% of anorectal anomalies in girls are in the form of imperforate anus with vestibular fistula, a condition commonly known as [ectopic] or [vestibular] anus. are to study the important clinical and technical variables that influence the long-term results of surgical reconstruction for vestibular ectopic anus. This study included 25 females with vestibular ectopic anus. Perineal deformity was found in [20%]. It showed high incidence in relation to rerouting operation [38%], to post operative complications [25%] and to the non use of colostomy. Anal deformity was found in [20%]. It showed higher incidence in patients operated upon before 2years, in relation to re-routing operation, to post operative as well as the absence of colostomy. Anal stenosis showed the same relations but with higher incidence with cutback procedure and with the use of colostomy. Persistence of ano-vestibular communication [20%] and occurrence of anal incontinence [25%], showed higher incidence in relation to re-routing operation, and the occurrence of post operative complications and anal deformity. Anal manometry including RAP, SAP, VSI, and FACL, were performed for 22/25 patients. There was no statistical differences of all the manometric results in relation to various variables except with VSI that showed lower values with post-operative complications and with the non use of colostomy beforehand. The long-term results of treatment of vestibular ectopic anus, especially anal incontinence, deformity and stenosis as well as persistent fistulas are important parameters to be used for assessment of various surgical techniques. Manometric changes are not typically coinciding with the clinical and anatomical appearance. Delaying the surgery to old age did not give significant reduction in the success of surgery in such low anomalies

El tratamiento quirúrgico de las malformaciones anorrectales bajas y fístulas vestibulares / Surgical treatment of low anorrectal malformations and vestibular fistula

Introducción.Entre las malformaciones anorrectales (MAR)en niñas o varones,aquellas conocidas como ano imperforado "bajo"fístula cutánea perineal(FC)y el ano perineal anterior(APA)son muy frecuentes.El ano imperforado con fístula vestibular(FV)no es una MAR "baja"pero comparte con éstas un excelente pronóstico funcional.Estas malformaciones se corrigen por una abordaje quirúrgico más limitado que el requerido porlas MAR más altas y complejas.Evaluamos los resultados en 227 pacientes operados.Resultados.El 93 por ciento de los operados por una Fc adquirieron una continencia normal y el 47 por ciento presentó constipación.Entre los pacientes con APA operados, en 96 por ciento mejoró el esfuerzo y el dolor defecatorio.Se evaluó la continencia em 67 pacientes con FV operadas.El 71 por ciento tuvo una continencia normal y el 50 por ciento constipación.Sólo una paciente con FV experimentó complicaciones severas e incontinencia después del manejo quirúrgico incorrecto

Ano imperforado: experiencias en un hospital departamental / Imperforated anus: departamental Hospital experiences

Objetivo. Evaluar el curso clínico y procedimiento quirúrgico de pacientes con diagnóstico de ano imperforado. Población. 16 pacientes. Diseño. Estudio retrospectivo de revisión de casos. Métodos. Se incluyó a todos los pacientes con diagnóstico de ano imperforado en un período de tres años. Se clasificaron mediante la clasificación de Peña y se intervinieron quirurgicamente, efectuándoseles colostomía sigmoidea y posteriormente, cirugía correctiva mediante la técnica de anorectoplastía sagistal posterior. Resultados. Del total, 11 requirieron colostomía sigmoidea en doble boca y tres no la requirieron. En 6 pacientes se llevó a cabo anorectoplastía sagital posterior mínima y en dos completa. Seis pacientes han tenido evolución adecuada. Un paciente presentó estreñimiento con estenosis parcial de la región anal. De los pacientes con colostomía dos presentaron estenosis de la boca proximal requiriendo plastía. Conclusiones. En base a la experiencia obtenida, se considera que los pacientes que presentan ano imperforado pueden ser tratados adecuadamente en nuestro medio departamental.

Bifid scrotum, perineal hamartoma and high imperforate anus: a case report

This is a case report of a newborn patient with imperforate anus, urethro-colonic fistula, perianal hamartoma, and bifid scrotum. Successful staged repair of these anomalies is described together with review of the embriology related to the case