Diagnóstico prenatal del complejo onfalocele, extrofia cloacal, ano imperforado y defecto de la columna vertebral (complejo OEIS) / Prenatal diagnosis of omphalocele, cloacal exstrophy, imperforate anus and spinal anomalies complex (OEIS complex)

RESUMEN El complejo onfalocele, extrofia de la cloaca, ano imperforado y anomalías de la columna vertebral (Complejo OEIS) es una combinación de malformaciones congénitas severas y extremadamente raras. Su incidencia es estimada en 1 por cada 200.000 - 400.000 nacidos vivos. La aparición de los casos es esporádica y no tiene una etiología conocida. Algunos han sido asociados a exposiciones ambientales, causas genéticas y procedimientos de fertilización in vitro. El mecanismo de desarrollo parece asociado a alteraciones de la blastogénesis temprana o defecto de la migración mesodérmica durante el período embrionario. El diagnóstico prenatal puede realizarse a las 16 semanas de gestación, aunque en ocasiones es posible un diagnóstico más temprano. Su diagnóstico definitivo se realiza con los hallazgos de la necropsia. La mayoría de los recién nacidos supervivientes necesitan múltiples cirugías con complicaciones potenciales y no siempre se alcanza los resultados deseados. Se presenta un caso de diagnóstico prenatal de onfalocele, extrofia de la cloaca, ano imperforado y anomalías de la columna vertebral (complejo OEIS).

ABSTRACT Omphalocele, cloacal exstrophy, imperforate anus and spinal anomalies complex (OEIS complex) is a combination of severe and extremely rare congenital malformations. Its incidence is estimated at 1 per 200,000 - 400,000 live births. The occurrence of cases is sporadic and has no known etiology. Some have been associated with environmental exposures, genetic causes, and in vitro fertilization procedures. The mechanism of development appears to be associated with alterations in early blastogenesis or defect in mesodermal migration during the embryonic period. Prenatal diagnosis can be made at 16 weeks of gestation, although earlier diagnosis is sometimes possible. Definitive diagnosis is made necropsy findings. Most surviving newborns require multiple surgeries with potential complications and the desired results are not always achieved. A case of prenatal diagnosis of omphalocele, cloacal exstrophy, imperforate anus and spinal anomalies (OEIS complex) is presented.

Oeis complex (omphalocele-exstrophy-imperforate anus-spinal defects): a confusing syndrome. case report

ABSTRACT Introduction: The OEIS complex is a group of polymorphic defects with low incidence and prevalence worldwide. It is associated with epigenetic and genetic causes that occur in early blastogenesis, resulting in 4 classic malformations consisting of omphalocele, bladder/cloaca exstrophy, imperforate anus, and spinal cord injuries. Spina bifida, symphysis pubis diastasis and limb abnormalities may also be observed. Case presentation: 7-month-old female patient (at the time of writing this report). The mother was from a rural region of Colombia, and this was her third pregnancy, which was at high risk of obstetric complications. The infant was prenatally diagnosed with a caudal folding defect in the abdominal wall and a lipomeningocele. During birth, bladder exstrophy, imperforate anus and spinal dysraphism were observed, leading to a diagnosis of OEIS complex. Relevant interdisciplinary management was initiated. Conclusions: The OEIS complex is a fetal polymorphic malformation with characteristic signs and defects. Knowledge on its etiopathogenesis, pre- and postnatal diagnosis, genetic counseling and therapeutic approaches are essential to favor the early treatment of different comorbidities, alleviate acute symptoms, reduce multiple comorbidities and improve the patient's quality of life.

RESUMEN Introducción. El complejo OEIS es un conjunto de defectos polimalformativos con baja incidencia y prevalencia mundial que suele estar asociado a causas epigenéticas y genéticas que ocasionan alteración al final de la blastogénesis, dando como resultado la asociación de cuatro malformaciones clásicas: onfalocele, extrofia vesical, ano imperforado y lesiones de la médula espinal. En ocasiones también se presenta espina bffida, diástasis de la sínfisis púbica y anormalidades en las extremidades. Presentación del caso. Paciente femenina de 7 meses de edad (al momento de la elaboración del presente reporte), procedente de un área rural colombiana, producto de una tercera gestación con alto riesgo obstétrico y diagnosticada prenatalmente con un defecto en el plegamiento caudal de la pared abdominal y un lipomeningocele. Durante el nacimiento se evidenció extrofia vesical, ano imperforado y disrafismo espinal, lo que permitió plantear el diagnóstico de complejo OEIS e iniciar manejo interdisciplinario pertinente. Conclusiones. El complejo OEIS es una poli-malformación fetal con signos y anomalías características, en donde los conocimientos sobre la etiopatogenia, el diagnóstico pre y postnatal, el asesoramiento genético y las propuestas terapéuticas son primordiales para favorecer el manejo precoz de las diferentes comorbilidades, aliviar la sintomatologia aguda, reducir múltiples comorbilidades y mejorar la calidad de vida del paciente.

Bladder exstrophy with inguinal hernia: a case report

Exstrophy of urinary bladder with epispadias involves protrusion of the urinary bladder through a defect in the lower abdominal wall accompanied by separation of pubic symphysis. It is a rare but challenging condition that causes significant physical, functional, social, sexual and psychological problems later in life. Bladder exstrophy commonly involves males and most cases are sporadic.' Inguinal hernia is a complication associated with bladder exstrophy and it occurs due to lack of obliquity of the inguinal canal secondary to pubic diastasis.' Authors report here, a case of antenatally diagnosed case of classic bladder exstrophy associated with left sided inguinal hernia which was incidentally diagnosed on tenth day of life. Our neonate underwent primary bladder closure with herniotomy. Staged reconstruction of epispadias and bladder neck has been planned at a later date. Recurrence of inguinal hernia after repair is common and bilateral inguinal exploration while performing herniotomy is advised to prevent its recurrence. Prognosis of such cases depends on the degree of continence achieved. With timely reconstructive surgery, continence rates can be as high as 60-70 percent.

Prenatal ultrasonographic features of cloacal exstrophy and literature review / 中国医学影像技术

Objective: To investigate prenatal ultrasonographic features of fetal cloacal exstrophy. Methods: Prenatal ultrasound and birth/autopsy results of 12 fetuses with cloacal exstrophy were analyzed retrospectively. The ultrasonic features of cloacal exstrophy were observed and compared with pathologic findings. Results: Prenatal ultrasonography showed omphalocele in 11 cases, bladder non-visualization in 8 cases, anal atresia in 8 cases, neural tube defect (acrococcygeal mass or absence of vertebrae) in 7 cases. The mainly accompanied abnormalities included lower limb deformity in 2 cases, urinary malformation in 5 cases, ambiguous genitalia in 9 cases, intrauterine growth restriction in 1 case, heart malformation in 2 cases, digestive tract abnormalities in 2 cases, single umbilical artery in 1 case, nuchal translucency thickening with hydrocephalus in 1 case. Conclusion: When prenatal ultrasound found features such as omphalocele, bladder non-visualization, anal atresia and ambiguous genitalia etc., cloacal exstrophy should be considered.

Complejo extrofia vesical-epispadias. Reporte de un caso / Bladder exstrophy-epispadias complex. A case report

RESUMEN La extrofia vesical es una grave anomalía del desarrollo embriológico del seno urogenital y del sistema esquelético vecino. Se caracteriza por una falla de la pared anterior del abdomen y de la vejiga, cuya cara posterior-inferior, evertida hacia afuera, protruye en forma de hernia y exterioriza por completo el trígono, con los meatos ureterales eyaculando directamente hacia la pared abdominal; la asociación con epispadias es la regla. Se describió el caso de una paciente pediátrica con diagnóstico del complejo extrofia vesical-epispadias, entidad poco frecuente en nuestro medio, la cual evolucionó de manera favorable y se encuentra en espera de un segundo tiempo quirúrgico como parte de su tratamiento (AU).

ABSTRACT The bladder exstrophy is a serious anomaly of theurogenital sinus´ embryologic development and the close skeletal system, characterized by a failure of the abdomen anterior wall and bladder, whose posterior inferior face, turned outside out, protrudes like an hernia and completely exteriorizes the trigone, with the ureteral meatuses ejaculating right down to the abdominal wall; the association with epispadias is the rule. It was described the case of a pediatric patient with diagnosis of exstrophy- epispadias complex, infrequent entity in our country, who has evolved with great results and is waiting a second surgical time to finish her treatment (AU).

Preoperative care of Polypoid exposed mucosal template in bladder exstrophy: the role of high-barrier plastic wraps in reducing inflammation and polyp size

ABSTRACT Objective To assess the role of high-barrier plastic wrap in reducing the number and size of polyps, as well as decreasing the inflammation and allergic reactions in exstro- phy cases, and to compare the results with the application of low-barrier wrap. Materials and Methods Eight patients with bladder exstrophy-epispadias complex (BEEC) that had used a low density polyethylene (LDPE) wrap for coverage of the exposed polypoid bladder in preoperative care management were referred. The main complaint of their parents was increase in size and number of polyps. After a period of 2 months using the same wrap and observing the increasing pattern in size of polyps, these patients were recommended to use a high-barrier wrap which is made of polyvinylidene chloride (PVdC), until closure. Patients were monitored for the number and size of polyps before and after the change of barriers. The incidence of para-exstrophy skin infection/inflammation and skin allergy were assessed. Biopsies were taken from the polyps to identify histopathological characteristics of the exposed polyps. Results The high barrier wrap was applied for a mean ± SD duration of 12±2.1 months. Polyps' size and number decreased after 12 months. No allergic reaction was detected in patients after the usage of PVdC; three patients suffered from low-grade skin allergy when LDPE was applied. Also, pre-malignant changes were observed in none of the patients in histopathological examination after the application of PVdC. Conclusion Polyps' size and number and skin allergy may significantly decrease with the use of a high-barrier wrap. Certain PVdC wraps with more integrity and less evaporative permeability may be more "exstrophy-friendly".

Combined application of prenatal ultrasound and magnetic resonance imaging in diagnosis of fetal bladder exstrophy / 中华医学超声杂志（电子版）

Objective To summarized the ultrasound and MRI characteristics of fetuses with bladder exstrophy. Methods Four cases of bladder exstrophy (3 cases of single birth were conceived naturally, 1 twins were artificial pregnated) were diagnosed by ultrasound combined MRI which were confirmed by autopsy in Hubei Maternal and Child Heath Hospital, from February 2013 to December 2017, We summarized the ultrasonographic features of the four cases. Results The common abnormal ultrasound images of the 4 cases: the bladder in the pelvic cavity was not shown, the umbilical cordinsertion was low, the symphysis pubis was separated, the gender was difficult to be determined, and the amniotic water was normal. In one case, one of the twins combined with the absence of the right kidney and abdominal wall mass below the umbilical cord insertion, and 1 case was suspected to tethered cord syndrome. Four cases of fetal antenatal MRI showed the same abnormal imaging findings as ultrasonography, but none of the 4 cases of pubic symphysis separation were showed, excluding the ultrasonographic diagnosis of tethered cord syndrome. In comparison with the X-ray and pathological examination results after the labor induction, the prenatal MRI was supplemented with 4 cases of abdominal wall defects, and 3 cases more than ultrasound. Ultrasonography and MRI combined examination were performed to correctly diagnose 4 cases of fetal bladder exstrophy. No bladder showed in pelvic nor the abdominal cavity, the abdominal wall defect with bulging content, the umbilical cord insertion was low, pubic symphysis separation, genital malformation, normal kidney andamniotic fluid were the main clues for ultrasound and MRI diagnosis of bladder exstrophy. Conclusion The combination of US and MRI can further improve the diagnostic accuracy and avoid missed diagnosis of fetal BE.

Prenatal ultrasound in diagnosis of omphalocele-exstrophy-imperforate anus-spinal defects complex in first trimester / 中国医学影像技术

Objective To explore the value of prenatal ultrasound in diagnosis of omphalocele-exstrophy-imperforate anusspinal defects (OEIS) in first trimester.Methods Prenatal ultrasonic characteristics of 10 fetuses with OEIS complex in first trimester were retrospectively analyzed and compared with autopsy results.Results Cystic bulging in the lower anterior abdominal wall was observed in all 10 fetuses.Spinal scoliosis dysplasia was found in 10 fetuses,with myelomeningocele in 3 fetuses.No normal bladder was visualized in 8 fetuses.Thickened nuchal translucency was noticed in 5 fetuses,among which neck lymphatic hydrocele was found in 1 fetus.The bilateral clubbed feet and left lower mutilation was observed in 1 fetus,respectively.All 10 OEIS complex fetuses were found accompanied with short umbilical cord,while single umbilical artery and umbilical cord cyst were found in 4 and 1 fetus,respectively.Autopsy showed abdominal wall defects with exstrophy in 10 fetuses.However,no complete cystic bulging was found.Besides,autopsy also showed pubic symphysis separation and bladder exstrophy in 10 fetuses without obvious genitalia nor anus.Conclusion Cystic bulging in the lower anterior abdominal wall is the most common prenatal ultrasonic characteristic of OEIS complex in first trimester.

The treatment of application of pedicled myocutaneous island flap of anterolateral thigh muscle for the suprapubic defect in adolescent with bladder exstrophy / 中华整形外科杂志

Objective@#To explore the treatment effect of pedicled myocutaneous island flap of anterolateral thigh muscle on the suprapubic defect caused by bladder exstrophy in children.@*Methods@#The clinical data of 3 adolescents with bladder exstrophy were analyzed. All 3 cases underwent one-stage Kelly procedure and received the treatment using pedicled myocutaneous island flap of anterolateral thigh muscle to repair the suprapubic defect. The bladder expansion was performed with ileal sarcoplasmic layer graft, and the Cohen ureteral reimplantation was performed as well, for 1 case 1, 1 year after the first operation. The others 2 patients didn′t receive the second operation.@*Results@#All operations were successful. The femoral donor regions were directly closed. Postoperative follow-up period was 1-7 years. The myocutaneous island flaps were survived and grew well. All incisions of the femoral donor region were primary healing without scar hypertrophy. Urinary continence was achieved in 2 cases, and partially achieved in 1 case. Recurrent urinary tract infection, recurrent fever or abdominal pain were not observed in all patients.@*Conclusions@#The pedicled anterolateral thigh myocutaneous island flap is an alternative way to repair suprapubic defect caused by bladder exstrophy.

Aplicación de las plaquetas en la extrofia vesical / Use of platelet in bladder exstrophy

La extrofia vesical es una anomalía congénita grave del tracto urinario inferior que afecta la vejiga, los huesos pelvianos, la pared abdominal, los genitales externos, el perineo y, en algunos casos, el intestino. Los tratamientos convencionales están basados en técnicas quirúrgicas, para lograr reconstruir la vejiga, los genitales y cerrar el defecto de la pared. Se presenta el caso de una niña de 3 años de edad, en la que el tratamiento quirúrgico se había aplicado en 6 ocasiones sin resultados. Se decidió combinar el tratamiento quirúrgico con la aplicación de medicina regenerativa. Se le aplicó lisado de plaquetas en la pared de la vejiga y los bordes de la pared abdominal a razón de 1 mL semanal, durante 4 semanas. Se logró la regeneración de los tejidos que permitió afrontar los bordes de dichas estructuras y realizar la técnica quirúrgica convencional. Como resultado se logró cierre total de vejiga, uretra y pared abdominal, sin fístulas entre estas estructuras ni al exterior. La utilización del lisado de plaquetas favorece el crecimiento y regeneración de los tejidos que componen el tracto urinario. La cirugía puede ser una solución definitiva, después de haber aplicado los factores de crecimiento plaquetarios, que preparan el tejido en cuanto a calidad y cantidad, favoreciendo el afrontamiento de los bordes, la cicatrización y disminuyendo las complicaciones posquirúrgicas(AU)

Bladder exstrophy is a severe congenital anomaly of lower urinary tract that affects the bladder, pelvic bones, abdominal wall, external genitalia, perineum and in some cases intestine. Conventional treatments are based on surgical techniques, in order to reconstruct bladder, genitals and close wall defect. We present a case of a 3 year old girl, in which surgical treatment was applied 6 times without results. It was decided to combine the surgical treatment with application of regenerative medicine. It was applied platelet lysate in the bladder wall and the edges of the abdominal wall at the rate of 1 mL weekly for 4 weeks, achieving tissue regeneration. It enabled to face the edges of those structures and perform conventional surgical technique. As a result, we achieved a total closure of bladder, urethra and abdominal wall, without fistulas either between these structures or outside. Therefore the use of platelet lysate promotes growth and tissue regeneration comprising the urinary tract, decreasing number of interventions, time exposition structures of the abdominal cavity, and post surgical complications such as fistulas(AU)

One - staged reconstruction of bladder exstrophy in male patients: long - term follow-up outcomes

ABSTRACT Introduction The surgical correction of bladder exstrophy remains challenging. In our institution, the repair has evolved from a staged repair to one-stage reconstruction. The one-stage reconstruction includes; bladder closure, Cantwell-Ransley neourethroplasty and abdominoplasty using groin flaps, without the need of pelvic ostheotomies. Repair of urinary continence (UC) and vesicoureteral reflux (VUR) is done after development of the infant. Objective To present our experience of our modified one-stage reconstruction of bladder exstrophy in male patients. Materials and Methods Medical records of male patients submitted to one-stage reconstruction of bladder exstrophy were analyzed retrospectively. Fifteen exstrophy bladder patients with mean age 4.2±7 years were treated at our institution between 1999-2013. Results 2 5 Conclusions One-stage reconstruction minimizes the number of surgical procedures required to achieve UC and potentiates bladder-neck function. The advantages of using groin flaps over current techniques for complete repair are the small risk for penile tissue loss and the avoidance of ostheotomies.

A Rare Case of an Adult with Untreated Bladder Exstrophy Presenting with Adenocarcinoma of Urinary Bladder.

Untreated bladder exstrophy in an adult is rare, as the defect is obvious and primary reconstruction is usually done in infancy. There are less than 90 reported cases of primary adenocarcinoma in an untreated bladder exstrophy in literature and only two such case reports from India. We report the case of adenocarcinoma in a 29 year old male with untreated bladder exstrophy to highlight the extreme rarity, yet distinct possibility and challenges faced in surgical management of such cases.

Short-term outcome of Kelly procedure for bladder exstrophy- epispadias complex / 中华泌尿外科杂志

Objective To evaluate the short-term outcome of the Kelly procedure for bladder exstrophy-epispadias complex.Methods Kelly procedure was performed in 5 cases from December 2015 in our institute. Retrospective analysis was done including the surgery and follow up.Results Two bladder exstrophy boys had histories of primary bladder closure without bladder neck reconstruction during the neonatal period. Another three epispadias boys had sever urethral defects with full incontinence. All cases undertook Kelly procedure and were followed up for 7.8 months (2-12 months). No severe complications such as glanular necrosis, urethral stricture and urethrocutaneous fistula was observed. Four cases were fully continent and one epispadias case had stress incontinence.Conclusions Kelly procedure produced satisfactory urinary continence and phallic cosmetics in bladder exstrophy-epispadias complex in children. Proper identification of the pudendal neurovascular bundle and repair of the external sphincter by levatorplasty help improve the outcome.

Bladder exstrophy / Extrofia vesical

SUMMARY Bladder exstrophy is a rare congenital anomaly resulting from failure of fusion of the middle of the pelvis line tissues during embryogenesis. It is characterized by malformation of the lower abdominal wall involving the genitourinary tract and the musculoskeletal system. Its incidence is estimated at 1:30,000 to 1:50,000 live births, and it is 2 or 3 times more frequent in males. The child’s age is important and the best results are obtained when treatment is performed shortly after birth.

RESUMO A extrofia de bexiga é uma anomalia congênita rara decorrente de falha da fusão dos tecidos da linha média da pelve durante a embriogênese e caracteriza-se por má-formação da região inferior da parede abdominal, envolvendo o trato geniturinário e o sistema musculoesquelético. Apresenta incidência estimada de 1:30.000 a 1:50.000 nascidos vivos, sendo 2 a 3 vezes mais frequente no sexo masculino. A idade da criança é importante e os melhores resultados são obtidos quando o tratamento é realizado logo após o nascimento.

Anestesia y Analgesia para corrección de extroña vesical. Reporte de tres casos / Anaesthesia and analgesia for bladder exstrophy correction. Case reports

Introduction: Neonatal bladder exstrophy repairs imply correcting the genitourinary malformation, and closing and stabilizing the pelvic girdle with external fixation and traction. Successful results are achieved in terms of reduced urinary incontinence, adequate aesthetic appearance, improved quality of life, reduction of the risk associated with neonatal surgery and minimization of the number of procedures associated with multistage repairs. In such procedures, prolonged perioperative anaesthesia is key for the patient to tolerate the traction and external fixation, to help osteotomy healing, and to reduce tension in the surgical wound. Patients' age and weight have an effect on the risk of toxicity from local anaesthetics and respiratory depression from opioid analgesics. The prolonged use of caudal catheters in the management of these cases is associated with infection at the insertion site. Case presentation: The article presents the cases of three infants between 7 months and 1 year of age taken to bladder exstrophy repair and pelvic osteotomy with tunnelled caudal catheter and continuous local anaesthetic infusion as perioperative anaesthetic management technique. The use of these techniques was aimed at reducing the risk of infection at the insertion site and the risks associated with prolonged pain management in infants. Conclusion: The cases suggest that tunnelled caudal catheter placement and continuous local anaesthetic infusion are safe techniques in the management of prolonged anaesthesia in infants, decreasing the risk of insertion site infection.

Introducción: La corrección de la extrofia vesical en el lactante menor implica la reparación de la malformación genitourinaria y el cierre y estabilización del anillo pélvico utilizando un tutor externo y tracción. Se obtienen resultados exitosos en la continencia urinaria del paciente, adecuado aspecto estético y buena calidad de vida reduciendo el riesgo que implica la cirugía neonatal y minimizando el número de procedimientos. La analgesia postoperatoria prolongada es fundamental para tolerar el tutor y/o la tracción, permitir la cicatrización de las osteotomías y reducir la tensión sobre la herida quirúrgica. La edad y el peso de estos pacientes aumentan el riesgo de toxicidad por anestésico local y de depresión respiratoria con el uso de opioides, al igual que el uso prolongado de catéteres caudales se asocia a infección del sitio de inserción. Presentación de caso: Se describen tres casos de lactantes de 7 meses a 1 ano de edad llevados a corrección de extrofia vesical y osteotomía pélvica mas fijación con tutor externo donde el manejo analgésico postoperatorio se realizó mediante la infusión de anestésico local por catéter caudal tunelizado para prolongar el tiempo de analgesia y reducir el riesgo de infección. Conclusión: Se señala el uso de la tunelización de los catéteres caudales y la infusión continua de anestésico local como técnica segura para el manejo analgésico prologado en el paciente lactante con reducción del riesgo de infección del sitio de inserción.

Modified Cantwell-Ransley procedure for epispadias repair in 37 patients / 中华泌尿外科杂志

Objective To present the outcomes of modified Cantwell-Ransley procedure in 37 patients with isolated epispadias and exstrophy complex.Methods A total of 37 patients underwent modified Cantwell-Ransley epispadias repair.The median age at surgery was 6.6 years (range 1-32).Of the 37 patients,13 patients had isolated penopubic epispadias and 24 had bladder exstrophy with no previous attempts at epispadias repair.Nine patients with exstmphy complex underwent complete primary repair,while other 15 cases received urinary diversion.Results The patients were followed up for 6 months to 3 years (mean,12 months).All patients had normal conical symmetric glans/corpora and an orthotopic meatus.The complications included glans/corporal ischemia (1 case),urethral fistula (3 cases),and foreskin infection (1 case).Conclusions Modified Cantwell-Ransley procedure is safe and effective for epispadias repair.Cosmetic appearance and functional outcomes of the penis are encouraging.

Spontaneous Pregnancy after Cystectomy and Urinary Diversion by Indiana Pouch Method for Congenital Bladder Exstrophy: A case Report.

Aims: To share our experience in the management of a patient of congenital bladder exstrophy, who conceived spontaneously following Indiana pouch surgery for urinary diversion. surgery for congenital bladder exstrophy, reported for antenatal care. In the first year of her life, an ineffective operation was performed for closure of her abdominal wall defect. At 10 years of age she underwent cystectomy, trygonocuteneostomy, diastasis of pubic bones were fixed and urinary diversion operation was performed by Indiana pouch method. She was followed up at the antenatal clinic of Dicle University until 38th week of pregnancy. Thereafter, an elective caesarean section was performed and a live healthy female baby was delivered. Discussion and Conclusion: Bladder exstrophy is an extremely rare congenital abnormality. Woman with bladder exstrophy and lower urinary tract reconstruction surgery may conceive spontaneously. However they have a high risk pregnancy and an elective caesarian section is advocated for delivery. Review of literature and our experience is presented.

Duplicación rectal extrofiada asociada a malformación anorrectal y transposición pene-escrotal con hipospadias perineal: Reporte de un caso clínico / Exstrophy of rectal duplication associated with anorectal malformation and penoscrotal transposition with perineal hypospadias: A case report

Se presenta el caso de un paciente masculino quien requirió tratamiento por agenesia anorrectal con fístula rectouretral y transposición pene-escrotal con hipospadias perineal, acompañados de una masa perineal. La tumoración perineal se encontró íntimamente adherida y en continuidad al recto, lo que la hace compatible con una duplicación rectal extrofiada. La reconstrucción quirúrgica de la anomalía se realizó en etapas hasta lograr resultados funcionales y estéticos aceptables.

We present the case of a male patient who required treaatment due to anorectal agenesis with recto urethral fistula and penoscrotal transposition with perineal hypospadias, associated with a perineal tumor. The perineal tumor was found strongly adhered and contiguous to the rectum which makes it compatible with an exstrophy of rectal duplication. Surgical reconstruction of the birth defect was performed in stages until acceptable biological function and esthetic results were obtained.

Omphalocele, exstrophy of cloaca, imperforate anus and spinal defect (OEIS Complex) with overlapping features of body stalk anomaly (limb body wall complex).

OEIS is an extremely rare constellation of malformations, which includes omphalocele, exstrophy of cloaca, imperforate anus, and spinal defect. We report here autopsy findings in a case of OEIS complex, which apart from the major anomalies of the complex had bilateral club foot that is, congenital talipes equinovarus, right hydroureter, and body stalk anomaly. The umbilical cord was absent, and the umbilical vessels were embedded in an amniotic sheet, which connected the skin margin of the anterior body wall defect to the placenta, this feature being the hallmark of limb body wall complex (LBWC). This case further supports the view that OEIS and LBWC represent a continuous spectrum of abnormalities rather than separate conditions and may share a common etiology and pathogenetic mechanism as proposed by some authors.

Reconstrução tardia da região abdominal inferior e vulvar como tratamento complementar para sequelas pós-correção de extrofia vesical / Delayed reconstruction of the vulvar and lower abdominal regions as a complementary treatment for postsurgical sequelae of bladder exstrophy correction

Patients with malformations of the exstrophy-epispadias complex, including bladder exstrophy, may present for correction of deformities and sequelae in abdominal area, after primary treatment of urogenital malformations, performed early in life and in multiple stages. The secondary correction with aesthetic and functional goals is usually performed after growth and definition of hairy and fat distribution as well as after completion of urological treatment. Psychological aspects should also be considered. We report three female patients, with a history of bladder exstrophy correction in the neonatal period, presenting multiple deformities in the abdominal and vulvar areas, treated at our institution...

Os portadores de malformações do complexo extrofia-epispádia, incluindo a extrofia vesical, podem se apresentar para correções de deformidadese sequelas abdominais após o tratamento primário das malformações urogenitais, realizado nos primeiros anos de vida e em múltiplos estágios. A correção secundária, com objetivos estéticos e funcionais, é normalmente realizada após o crescimento e definição da distribuição pilosae adiposa, bem como após a finalização do tratamento urológico. Os aspectos psicológicos também devem ser considerados. Relatamos uma série de três casos de pacientes do sexo feminino, com antecedente decorreção de extrofia vesical no período neonatal, apresentando múltiplas deformidades na região abdominal e vulvar, submetidas à reconstrução em nosso serviço...