Functional Outcomes of Patients Who Underwent Anorectal Malformation Repair Using MRI Guidance.

BACKGROUND: Despite the initiation of minimally invasive laparoscopic techniques, the majority of patients who undergo anorectal malformation repair still experience functional bowel issues in childhood, including constipation and fecal incontinence. In this study, we evaluate the functional outcomes of a procedure in which magnetic resonance imaging guidance is used during initial laparoscopic repair to better locate the epicenter of the sphincter muscle complex and pelvic floor with the goal of more accurate placement of the neoanus and improved functional outcomes. METHODS: A retrospective chart review evaluated demographic, operative, and outcome details for patients who underwent this procedure. A telephone survey was employed to determine levels of social continence using the validated Baylor Continence Scale and to determine what type of bowel management is used. RESULTS: Twenty-six patients were included. Median age at operation was 7 months, and median age at follow-up was 4 years old, with a range of 1-9. Bowel management regimen results revealed that 19 % (n = 5) use no bowel management regimen, 58 % (n = 15) use laxatives only, and 23 % (n = 6) use enemas. Enema use was not associated with different spine or sacral anomalies (p = 0.77). Fifteen patients (58 %) answered the Baylor Continence Scale questions and had a median score of 14. No difference was found in scores when accounting for lesion level (p = 0.43), quality of needle placement (p = 0.46), or quality of sphincter muscles (p = 0.75). CONCLUSIONS: Using MRI guidance in the repair of anorectal malformations shows promise in both the qualitative and quantitative functional outcomes of this complex patient population. LEVEL OF EVIDENCE: Level III.

Anoplasty and rectovaginal fistula repair in a gilt with atresia ani: A case report.

A 2-year-old female Vietnamese potbellied pig was referred to the Large Animal Teaching Hospital at the Ontario Veterinary College for anoplasty and rectovaginal fistula repair. The presence of atresia ani and rectovaginal fistula had been previously diagnosed. Contrast radiography was used to confirm the diagnosis and determine the position of the fistula and terminal rectum. Under general anesthesia, the urethra was catheterized. An incision was made at the anatomic location of the anus, the rectovaginal fistula was isolated through deep dissection, and a Penrose drain was placed around it for caudal retraction. Transvaginal catheter placement through the fistula and into the rectum assisted with anatomic location. Once the urogenital and gastrointestinal tracts were clearly identified, the fistula was transected as close to the vaginal cavity as possible. The vaginal defect was sutured, and the fistula tract was mobilized 90° and sutured to the skin, creating the anal canal. Postoperative complications included constipation and cystitis. The gilt passed feces 5 d after surgery and was discharged on Day 11 of hospitalization. Normal urination and defecation were observed at the time, and fecal incontinence was resolved. Six months after surgical intervention, the gilt remained continent and no complications were reported. Key clinical message: Anoplasty and rectovaginal fistula repair were completed successfully in a gilt. Preservation of the fistula and its use during anal reconstruction may provide an internal anal sphincter and may be associated with improved continence.

Anoplastie et réparation de la fistule recto-vaginale chez une cochette avec atrésie anale : rapport de cas. Une femelle cochon vietnamien de 2 ans a été référée au Large Animal Teaching Hospital du Ontario Veterinary College pour une anoplastie et réparation d'une fistule recto-vaginale. La présence d'une atrésie anale et d'une fistule recto-vaginale avait déjà été diagnostiquée. Une radiographie de contraste a été utilisée pour confirmer le diagnostic et déterminer la position de la fistule et du rectum terminal. Sous anesthésie générale, l'urètre a été cathétérisé. Une incision a été faite à l'emplacement anatomique de l'anus, la fistule recto-vaginale a été isolée par dissection profonde et un drain de Penrose a été placé autour d'elle pour la rétraction caudale. Le placement d'un cathéter transvaginal à travers la fistule et dans le rectum a aidé avec la localisation anatomique. Une fois les voies urogénitale et gastro-intestinale clairement identifiées, la fistule a été sectionnée aussi près que possible de la cavité vaginale. Le défaut vaginal a été suturé et le trajet de la fistule a été mobilisé à 90° et suturé à la peau, créant le canal anal. Les complications postopératoires incluaient la constipation et la cystite. La cochette a expulsé des matières fécales 5 jours après la chirurgie et a obtenu son congé le 11e jour d'hospitalisation. Une miction et une défécation normales ont été observées à ce moment-là, et l'incontinence fécale a été résolue. Six mois après l'intervention chirurgicale, la cochette présentait encore de la continence urinaire et aucune complication n'a été signalée.Message clinique clé :L'anoplastie et la réparation de la fistule recto-vaginale ont été réalisées avec succès chez une cochette. La préservation de la fistule et son utilisation lors de la reconstruction anale peuvent fournir un sphincter anal interne et peuvent être associées à une meilleure continence.(Traduit par Dr Serge Messier).

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.

Omphalocele, Exstrophy of Cloaca, Imperforate Anus, and Spinal Defects Complex: A Case Report.

 Omphalocele, exstrophy of cloaca, imperforate anus, and spinal defects complex is a rare malformation complex that includes omphalocele, cloacal exstrophy, imperforate anus and spinal defects with the incidence of 1 in 200,000 to 400,000 pregnancies and is even rarer in twin gestation. The etiology of this complex is still unclear. Most cases are sporadic. Prenatal screening must be done for diagnosis and appropriate multidisciplinary management of cases. In severe cases, termination of pregnancy is considered. We present a 4-day first twin child with underdeveloped ambiguous genitalia delivered via emergency lower section cesarean section at 32+3 weeks of gestation with giant liver containing omphalocele, cloacal exstrophy, imperforate anus and meningocele with severe pulmonary artery hypertension and non-visualization of right kidney and ureter, absence of uterus, fallopian tubes and right ovary. Separation and repair of the cecum and bladder were done. The ladd procedure was performed. Ileostomy was created and single-stage repair of the abdominal wall was done. Keywords: anorectal malformations; bladder exstrophy; case reports; neural tube defects; umbilicus.

Saving the perineal body-A modification of the posterior sagittal anorectoplasty.

BACKGROUND: Wound dehiscence of the anocutaneous anastomosis and/or reconstructed perineal body is a feared perioperative complication after posterior sagittal anorectoplasty (PSARP). Dehiscence of the perineal body can have long-term negative implications for fecal continence, sexual intimacy, obstetrical outcomes, and the need for reoperative surgery. We describe a modification to the traditional PSARP for repair of an imperforate anus with a rectovestibular, perineal, or absent fistula by sparing the perineal body, eliminating postoperative perineal body dehiscence and potentially improving long-term functional outcomes. METHODS: A retrospective review of female patients with a rectovestibular, perineal, or absent fistula who underwent PSARP with sparing of the perineal body was performed. RESULTS: Six patients underwent PSARP with sparing of the perineal body between 2019 and 2022. There were no perioperative complications. At follow-up, all patients are having regular bowel function without difficulty and have an excellent appearance of their perineal body. CONCLUSIONS: PSARP for a rectovestibular, perineal, or absent fistula can be safely performed with a more limited incision to avoid disruption of the perineal body. This eliminates the need for perineal body reconstruction during the procedure, thereby preventing wound dehiscence. Given the significant long-term adverse sequelae of wound dehiscence and resultant inadequate perineal body, we believe this modification to the PSARP warrants strong consideration.

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

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 nonpermeable 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.

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.

Stricture rate in patients after the repair of anorectal malformation following a standardized dilation protocol.

PURPOSE: The aim of this study was to determine and analyze the stricture rate in patients who underwent a PSARP or PSARVUP and followed a postoperative protocol of anal dilation (Fig. 1). METHODS: A retrospective review of patients with anorectal malformation (ARM) who underwent a primary PSARP or PSARVUP from February 2016 to October 2021 was performed. Data collected included patients' demographics, type of ARM, age at the time of operation, postoperative complications, with emphasis on whether there were any strictures or any difficulties during dilations, and on follow-up. During the surgical repair, emphasis was placed on preserving the blood supply of the bowel and performing a tension-free bowel-to-skin anastomosis. RESULTS: Eighty-four patients met the inclusion criteria. Forty-four patients were females: 21 recto-perineal fistula, 12 cloaca, 9 recto-vestibular fistula, one imperforate anus without fistula, and one patient had a complex anorectal and vaginal malformation with an anal stricture and a rectovaginal fistula. Forty patients were males: 14 recto-perineal fistula, 11 recto-urethral bulbar fistula, 6 recto-urethral prostatic fistula, 6 imperforate anus without fistula, and 2 bladder neck fistula. One patient had an anal stenosis with sacral agenesis, without a presacral mass. Patient ages ranged from 0 to 79 months (mean 7.5 months, median 5 months) at the time of surgery. Follow-up time ranged from 7 to 73 months (mean 38 months, median 35 months). No patient suffered of a postoperative anal stricture. Six patients suffered of a rectal prolapse that required a surgical repair. CONCLUSION: Post-operative anal stricture after PSARP and PSARVUP can be avoided with proper surgical technique and postoperative care. Namely, by preserving adequate blood supply of the bowel and avoiding tension at the anoplasty, and by adhering to a structured protocol of anal dilations.

Three-Dimensional-Printed Vaginal Molds for Use After McIndoe Neovagina Creation.

BACKGROUND: Surgical vaginoplasty is a highly successful treatment for congenital absence of the vagina. One key to long-term success is the use of an appropriate vaginal mold in the immediate postoperative period. We present the use of a three-dimensional (3D)-printed vaginal mold, customizable to the anatomy of individual patients. TECHNIQUE: Vaginal molds were designed using a 3D modeling software program. The design included narrowing around the urethra, holes for egress of secretions, and a knob for insertion and removal. Dental resin was 3D-printed into various-sized vaginal molds, and postprocessing was performed. EXPERIENCE: We present the use of the 3D-printed mold for a patient with a history of cloacal exstrophy and a unique pelvic shape. Two prior neovagina surgeries in this patient had been unsuccessful due to ineffective handheld dilator use; the patient experienced success with the 3D-printed intravaginal mold. CONCLUSION: The use of the 3D-printed vaginal mold is an alternative to the limited commercially available models today and allows for customization to user anatomy. With 3D printers becoming more widely accessible, we believe this method could become universally accepted, with hopes of contributing to increased patient satisfaction and decreased complications.

Long-term outcomes of male imperforate anus with recto-urethral fistula: laparoscopy-assisted anorectoplasty versus posterior sagittal anorectoplasty.

PURPOSE: A five-parameter fecal continence evaluation questionnaire (FCEQ) and incidence of complications were used for long-term assessment of laparoscopy-assisted anorectoplasty (LAARP) and posterior sagittal anorectoplasty (PSARP) for treating male imperforate anus (MIA) with rectobulbar (RB) or rectoprostatic (RP) fistulas. METHODS: Subjects were 64 consecutive Japanese MIA patients with RB or RP fistulas treated at a single institution between 1995 and 2021. FCEQ data collected retrospectively were used to calculate a fecal continence evaluation (FCE) score (best = 10) and coefficient of variation for FCE (FCECV). The statistical significance threshold was defined at p < 0.05. RESULTS: Fistulas were RB (n = 40; LAARP = 25/40, PSARP = 15/40) or RP (n = 24; LAARP = 17/24, PSARP = 7/24). Mean ages at surgery and status of the sacrum were similar (p = 0.06, 0.05 and 0.51). FCE scores in RP-LAARP were consistently higher with less FCECV but differences were only statistically significant from 7 years postoperatively (p < 0.05). While FCE scores for RB-LAARP and RB-PSARP were similar (p = 0.99), FCECV were lower for RB-LAARP compared with RB-PSARP. LAARP was associated with less-wound infections, but greater incidence of anal mucosal prolapse unrelated to preoperative status of the sacrum. CONCLUSION: Long-term postoperative FCEQ assessment favored LAARP for treating MIA with either RB or RP fistulas.

Rectal duplication cyst in an adult with a history of imperforate anus: a diagnostic challenge.

Rectal duplications are rare congenital anomalies that represent 1%-6% of alimentary tract duplications. We report a case of a woman in her 50s who presented to our hospital with perianal pain and urinary retention. She had a history of imperforate anus repaired after birth and dynamic graciloplasty performed during her adulthood for faecal incontinence. Abdominal CT scan showed a fluid collection extending from the electrostimulator, placed in a subcutaneous pocket in the abdomen, to the rectouterine pouch. Infection related to the electrostimulator was assumed and, after a course of antibiotics without patient improvement, the electrostimulator was removed. The symptoms and the pelvic fluid collection persisted, and diagnostic laparoscopy was performed. Diagnosis of rectal duplication cyst was made intraoperatively, and the cyst was completely resected. Patient fully recovered after surgery. This is a rare case of a rectal duplication cyst presenting during adulthood and associated with imperforate anus.

Intraoperative visualization of urethra using illuminating catheter in laparoscopy-assisted anorectoplasty for imperforated anus-A novel and safe technique for preventing urethral injury.

PURPOSE: In this study, we used a near-infrared ray catheter (NIRC) to visualize the urethral line. We herein report our intraoperative visualization technique of the urethra using an illuminating catheter in laparoscopy-assisted anorectoplasty (LAARP) for imperforated anus. PATIENT AND SURGICAL TECHNIQUE: A 3.0-kg term male neonate with anorectal malformation was delivered. An invertogram revealed the type as intermediate. Transverse colostomy was performed at the left upper abdomen. A recto-bulbar urethral fistula (RBUF) was diagnosed via distal colostogram and voiding cystourethrogram. LAARP was planned at 6 months of age. We performed the operation with four trocars. A 45° 5-mm scope was used to clearly view the deep pelvic space. Before starting rectal dissection, a 6-Fr pig-tail-type NIRC was inserted through the external opening of the urethra to visualize the urethra during the laparoscopic procedure. The catheter tip was placed in the bladder, and excretion of urine was maintained through the NIRC during the procedures. While dissecting the deep pelvic space between the posterior wall of the urethra and anterior wall of the rectum, the exact line of the urethra was clearly confirmed by overlay images of the NIRC. The RBUF was dissected safely using this innovative image-guided technique. Anoplasty was performed between the rectal stump and perineal skin. The postoperative course was uneventful. Oral intake was started on postoperative day 1. Postoperative dynamic urography showed no complications. CONCLUSION: An NIRC is useful for detecting the urethra during LAARP.

Adult residual rectourethral fistula and diverticulum presenting decades after imperforate anus repair: a case report.

BACKGROUND: This report describes a rare surgical case of an intraabdominal mass in a middle-aged patient 40 years after imperforate anus repair. CASE PRESENTATION: A 44-year-old Latino male with history of repaired anorectal malformation presented with recurrent urinary tract infections and rectal prolapse with bothersome bleeding and fecal incontinence. During his preoperative evaluation, he was initially diagnosed with a prostatic utricle cyst on the basis of magnetic resonance imaging findings, which demonstrated a cystic, thick-walled mass with low signal contents that extended inferiorly to insert into the distal prostatic urethra. However, at the time of surgical resection, the thick-walled structure contained an old, firm fecaloma. The final pathology report described findings consistent with colonic tissue, suggesting a retained remnant of the original fistula and diverticulum. CONCLUSIONS: Although rare, persistent rectourethral fistula tracts and rectal diverticula after imperforate anus repair can cause symptoms decades later, requiring surgical intervention. This is an important diagnostic consideration for any adult patient with history of imperforate anus.

Lessons learned from lower urinary tract complications of anorectoplasty for imperforate anus with rectourethral/rectovesical fistula: Laparoscopy-assisted versus posterior sagittal approaches.

PURPOSE: To report the sequelae of and preventive strategies for selected lower urinary tract (LUT) complications, i.e., posterior urethral diverticulum (PUD), intraoperative LUT injuries, postoperative dysuria, and fistula recurrence in male imperforate anus (IA) with rectourethral/rectovesical (RU/RV) fistula after laparoscopy-assisted anorectoplasty (LAARP) or posterior sagittal anorectoplasty (PSARP). METHODS: 153 boys with IA and RU/RV fistula treated 1986-2019 by LAARP (n = 56) or PSARP (n = 97) at two unrelated institutes were studied retrospectively. RESULTS: After mean follow-up of 17.0 years (range: 36.5 days-32.0 years), the overall incidences of LUT complications were: LAARP (6/56; 10.7%); PSARP (7/97; 7.2%); p = 0.55, comprising PUD: LAARP (n = 5), PSARP (n = 0); p = 0.006; injuries: LAARP (n = 0), PSARP (n = 5); p = 0.16; dysuria: LAARP (n = 1), PSARP (n = 1); p>0.999; and recurrence: LAARP (n = 0), PSARP (n = 1); p>0.999. Mean onset of PUD was 5.1 years (range: 1.0-15.1 years). TREATMENT: PUD: surgery (n = 2/5), conservative (n = 3/5); injuries: intraoperative repair (n = 5/5); dysuria: conservative (n = 2/2), and recurrence: redo PSARP (n = 1/1). CONCLUSIONS: Strategies devised to improve dissection accuracy resolved the specific technical issues causing LUT complications (remnant RU fistula dissection in LAARP and blind posterior access in PSARP). Currently, the incidence of new cases of PUD and LUT injuries is zero. LEVEL OF EVIDENCE: Level III.

Long-term Follow-up, Patient Satisfaction, and Quality of Life for Patients With Kock's Continent Ileostomy.

BACKGROUND: Continent ileostomy is a solution for patients after proctocolectomy. OBJECTIVE: The aim of this study was to assess the long-term complications and failure rate alongside patient satisfaction, function, and quality of life for patients with a continent ileostomy. DESIGN: This was a retrospective, descriptive cross-sectional study. SETTINGS: All patients were operated in 1 center between 1980 and 2016. PATIENTS: A total of 85 patients received a de novo continent ileostomy in our institution. Sixty-nine patients (80%) had ulcerative colitis, 12 (14%) had Crohn's disease, 2 had indeterminate colitis, and 1 each had familial adenomatous polyposis and anal atresia. MAIN OUTCOME MEASURES: Medical charts were reviewed for reoperations and pouchitis. The 36-Item Short Form, Short Health Scale, and a local continent ileostomy questionnaire were used to assess quality of life, function, and satisfaction. RESULTS: After a median follow-up of 24 years, 67 patients (79%) underwent a total of 237 reoperations, of which 15 were conversions to end ileostomies, that is, failures. Fifty patients (59%) underwent repeat laparotomies, excluding loop ileostomy closures. Nipple detachment was the most common cause for repeat laparotomy, and fistulation was the most common cause for pouch removal. IPAA before continent ileostomy was associated with an increased risk for failure. Crohn's disease was not associated with an increased risk for reoperation or failure. Forty-three patients (84%) reported that they were satisfied. Seventy patients were available for questionnaires, and 50 patients (71%) answered. There was no difference in the 36-Item Short Form between the continent ileostomy population and an age-matched control population. LIMITATIONS: The retrospective, single-center design of the study alongside <100% response rate are to be considered limitations. CONCLUSIONS: Despite large numbers of complications, patients are generally satisfied with their continent ileostomies, and their quality of life is comparable to the general population. See Video Abstract at http://links.lww.com/DCR/B444. SEGUIMIENTO A LARGO PLAZO, SATISFACCIN DEL PACIENTE Y CALIDAD DE VIDA PARA PACIENTES CON ILEOSTOMA CONTINENTE DE KOCK: ANTECEDENTES:La ileostomía continente es una solución para los pacientes después de una proctocolectomía.OBJETIVO:El objetivo de este estudio fue evaluar las complicaciones a largo plazo y la tasa de fracaso junto con la satisfacción del paciente, la función y la calidad de vida de los pacientes con una ileostomía continente.AJUSTES:Todos los pacientes fueron operados en un centro entre 1980 y 2016.DISEÑO:Estudio retrospectivo, descriptivo y transversal.PACIENTES:Un total de 85 pacientes recibieron una ileostomía continente de novo en nuestra institución. Sesenta y nueve (80%) pacientes tenían colitis ulcerosa, doce (14%) enfermedad de Crohn, dos, colitis indeterminada y uno de poliposis adenomatosa familiar y atresia anal respectivamente.PRINCIPALES MEDIDAS DE RESULTADO:Se revisaron los registros médicos en busca de reintervenciones y pouchitis. Se utilizó SF-36, escala de salud corta y un cuestionario de ileostomía continente local para evaluar la calidad de vida, la función y la satisfacción.RESULTADOS:Después de una mediana de seguimiento de 24 años, 67 (79%) pacientes fueron sometidos a un total de 237 reoperaciones, de las cuales 15 fueron conversiones para terminar con ileostomías, es decir, fracasos. 50 (59%) pacientes se sometieron a laparotomías repetidas, excluyendo los cierres de ileostomía en asa. El desprendimiento del pezón fue la causa más común de repetición de laparotomía y la fistulación fue la causa más común de retiro de la bolsa. La anastomosis anal de la bolsa ileal antes de la ileostomía continente se asoció con un mayor riesgo de fracaso. La enfermedad de Crohn no se asoció con un mayor riesgo de reoperación o fracaso. 43 pacientes (84%) informaron que estaban satisfechos. 70 pacientes estuvieron disponibles para cuestionarios y 50 pacientes (71%) respondieron. No hubo diferencia en SF-36 entre la población de ileostomía continente y una población de control de la misma edad.LIMITACIONES:El diseño retrospectivo y unicéntrico del estudio junto con una tasa de respuesta inferior al 100% deben considerarse limitaciones.CONCLUSIÓN:A pesar del gran número de complicaciones, los pacientes generalmente están satisfechos con sus ileostomías continentes y su calidad de vida es comparable a la de la población general. Consulte Video Resumen en http://links.lww.com/DCR/B444.

Turbulent Cerebrospinal Fluid Flow in Enlarging Terminal Myelocystocele.

Terminal myelocystocele is a rare type of neural tube malformation, consisting of a skin-covered lumbosacral mass, highly associated with other complex abdominal malformations within the OIES complex (omphalocele, imperforate anus, exstrophy of the cloaca and spinal defects). We present a case of a premature female with an extensive lumbosacral mass at birth, as well as an omphalocele, cloacal exstrophy, renal abnormalities, and sacral agenesis. Lumbar magnetic resonance imaging revealed a meningocele sac herniating through the bone defects and containing a syringocele sac. Advanced imaging techniques showed turbulent cerebrospinal fluid flow. At control, 4 weeks later, the defect doubled in size. The myelocystocele sac was evacuated and closed, and the patient persisted with paraparesis. The role of cerebrospinal fluid flow analysis is well established in Chiari-type malformations, in which turbulent flow within the syrinx is related to a better outcome after surgery. It is possible that the same principle could be applied to other spinal malformations, as shown in this case of terminal myelocystocele.

Safety of delayed surgical repair of omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex in infants with significant comorbidities.

PURPOSE: Management of infants with OEIS complex is challenging and not standardized. Expeditious surgery after birth has been recommended to limit soilage of the urinary tract and optimize intestinal function. However, clinical instability secondary to comorbidities is common in this population and early operation carries risk. We sought to define the risk/benefit profile of delaying repair. METHODS: All newborn patients with OEIS managed by our institution between Sep 2017 and Oct 2019 were reviewed. Comorbidities were evaluated, including cardiopulmonary pathologies and associated malformations. RESULTS: Ten patients with OEIS were managed. Patients underwent early (2 patients, repair at 0-2 days) or delayed (6 patients, repair at 6-87 days) first-stage exstrophy repair. Two patients died prior to repair (progressive respiratory failure, severe genetic anomalies). Repairs were delayed secondary to cardiac conditions, neurosurgical interventions, medical disease, and/or delayed transfer. Delayed repair patients had longer lengths of stay and use of parenteral nutrition. No patients experienced urinary tract infections prior to repair. CONCLUSIONS: Delaying first-stage exstrophy repair to allow physiologic optimization is safe. All repaired patients were discharged home, without parenteral nutrition or supplemental oxygen.

Congenital pouch colon: an unusual case report. / Bolsa colónica congénita. Reporte de un caso inusual.

INTRODUCTION: Congenital pouch colon (CPC) is a rare malformation. It causes variable dilatation of the colon associated with anorectal malformation (ARM), usually presenting a fistula towards the genitourinary tract. CASE REPORT: 2-day-old female patient, with no relevant medical history. She had abdominal distension and imperforate anus. She underwent colostomy. She had an irregular evolution with high colostomy debits. Contrast imaging studies were performed, which demonstrated an erroneous exteriorization of the jejunal loop. She underwent an exploratory open surgery, which confirmed the previous diagnosis and incidentally found colonic agenesis, with ileum entering in a pouch of 6 cm of diameter that connects with the bladder. DISCUSSION: CPC is a common pathology in certain eastern countries and extremely rare in western countries. In Ecuador, no records of reported cases were found. A correct pre-surgical analysis of ARM patients should be carried out to achieve an adequate planning and surgical approach, thus reducing morbidity and mortality.

INTRODUCCION: La bolsa colónica congénita (BCC) es una malformación poco común en la que se produce una dilatación variable del colon asociada a malformación anorrectal (MAR), generalmente presenta una fistula hacia el tracto genitourinario. CASO CLINICO: Paciente femenino de 2 días de vida, sin antecedentes médicos de relevancia, presenta distensión abdominal y ano imperforado, es sometida a colostomía, presenta evolución irregular con débitos altos a través de la colostomía, se realizan estudios contrastados de imagen donde se observa exteriorización errónea de asa de yeyuno, se somete a laparotomía exploratoria donde se comprueba lo descrito y además se reporta como hallazgo incidental agenesia colónica con desembocadura del íleon en una bolsa de 6 cm de diámetro que se conecta con la vejiga. DISCUSION: La BCC es una patología común en ciertos países orientales y extremadamente rara en países occidentales; en Ecuador, no se encontraron registros de casos reportados. Se debe realizar un correcto análisis prequirúrgico de los pacientes con MAR para conseguir una adecuada planificación y abordaje quirúrgico disminuyendo con ello la morbimortalidad en el paciente.