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.

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.

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.

Severe forms of Johanson-Blizzard syndrome caused by two novel compound heterozygous variants in UBR1: Clinical manifestations, imaging findings and molecular genetics.

Johanson-Blizzard Syndrome (JBS) is a rare autosomal recessive genetic disorder characterized by exocrine pancreatic insufficiency, distinct abnormal facial appearance and varying degrees of growth retardation. Variants in UBR1 gene are considered to be responsible for the syndrome. Here, we describe a 3-year old boy, who visited our clinic for severe growth retardation and frequent oily diarrhea. The physical examination revealed nasal alae aplasia, scalp defect, and maldescent of left testicle. Transabdominal ultrasound and computed tomography scan of his abdomen demonstrated complete fatty replacement of the pancreas. The clinical, laboratory, and imaging findings strongly suggest the diagnosis of hereditary pancreatitis. Whole exome sequencing revealed two rare compound heterozygous variants, c.2511T > G (p.H837Q) and c.1188T > G (p.Y396X), in the UBR1 gene of this boy, so, the diagnosis of JBS was established. This is the first report of Chinese patient with JBS, and our study indicates that transabdominal ultrasound and computed tomography are two useful and noninvasive imaging methods for the diagnosis and evaluation of JBS, and identification of these two novel variants expands the database of UBR1 gene variants. Furthermore, with the availability of the identification technology for these variants, prenatal diagnosis could be offered for future pregnancies.

Prenatal and postnatal imaging techniques in the evaluation of disorders of sex development.

Imaging of the reproductive tract is challenging and requires a general knowledge of congenital variations in anatomy. The anatomy of the developing fetus, whether a male phenotype or female phenotype, is also a dynamic process with many changes occurring during gestation. Families may ask details about the genitalia during prenatal imaging and when variations in what is thought to be normal are present, further investigation is sometimes needed to make sense of what is seen. This overview will describe categories of disorders of sex development (DSD), whether chromosomal or structural or both, and the current state of imaging of these anomalies.

Contrast-Enhanced Colosonography for the Evaluation of Children With an Imperforate Anus.

This case series describes a novel method for showing the preoperative anatomy of children with anorectal malformations using ultrasound contrast, which we have termed "contrast-enhanced colosonography (ceCS)." Six patients with anorectal malformations without a perineal fistula were studied both by fluoroscopic distal colostography and ceCS, and their results were confirmed surgically. Contrast-enhanced CS precisely showed the complex anatomic relationships in all cases. Compared to traditional fluoroscopic studies, ceCS has the benefit of no associated ionizing radiation and thus is safer for children.

Genital Mobilization of Intravesical Phallus Associated With Covered Cloacal Exstrophy: A Case Report.

Cloacal exstrophy is the most severe form of the exstrophy-epispadias complex, occurring in approximately 1 of every 200,000 to 400,000 live births. Variant such as covered cloacal exstrophy presentations are only one-tenth as common. Although exstrophy-epispadias complexes include genital anomalies, intravesical phallus is very rare. We report an extremely rare case of intravesical phallus with covered cloacal exstrophy that was successfully treated by phallic mobilization.

Voiding Cystourethrography in the Diagnosis of Anorectal Malformations.

Introduction In a newborn with an anorectal malformation (ARM), it is vital to determine the anatomy of the underlying defect. After a colostomy has been created, distal colostography (DCG) is currently the chosen modality for the detection of fistulas. The role of voiding cystourethrography (VCU) is unexplored. Aim The aim of this study was to analyze the reproducibility of DCG and VCU in assessing the underlying malformation in ARM, and to evaluate any degree of concordance among them. Materials and Methods A retrospective evaluation was undertaken comparing DCG and VCU findings with definitive surgical findings in children who received both investigations for the initial management of ARM. Results In this study, 26 boys were included. Malformations were classified according to Krickenbeck classification. Four boys with perineal fistula were excluded from the analysis, as none of them needed a colostomy; therefore, comparison between both methods was not possible. VCU identified a rectourethral fistula in 12 cases, a rectovesical fistula in 4 cases, and excluded a fistula in 6 cases. VCU was false negative for a rectovesical fistula in one case. VCU showed a vesicoureteral reflux in 16 patients. Results obtained by VCU were compared with DCG. DCG showed a rectourethral fistula in 11 cases, a rectovesical in 3 cases, and excluded a fistula in 6 cases correctly. DCG was false negative in two cases, a rectoprostatic and a rectovesical fistula. The diagnostic accuracy, measuring the sensitivity was 95% in VCU (range: 76.18-99.88%) and 90% (range: 68.30-98.77%) in colostogram. Conclusion VCU can be as accurate as distal colostogram in the evaluation of male patients with ARM. VCU uses a natural orifice, without the need of a colostomy. VCU can be performed as an initial modality to determine the type of malformation and to decide on the type of early surgical management.

Evaluation of postoperative anal functions using endoanal ultrasonography and anorectal manometry in children with congenital anorectal malformations.

PURPOSE: The aim of this study was to assess the postoperative anorectal anatomy and function in children with congenital anorectal malformations (ARM) using endoanal ultrasonography (EUS) and anorectal manometry. METHODS: This study included 47 children who had undergone posterior sagittal anorectoplasty (PSARP) or transperineal anorectoplasty for the repair of an ARM. Children were grouped according to symptoms of defecation disorder, including normal defecation, fecal soiling, fecal incontinence, and constipation. Ten children with no history of anal or rectal diseases served as healthy controls. A well-established scoring system was used for the evaluation of anal function and defecation disorder. RESULTS: EUS showed significant differences in the thickness of the interior sphincter between the ARM patients and the healthy controls (P<0.05). However, no significant difference was found in the thickness of the interior sphincters between the PSARP group and transperineal anorectoplasty group (P>0.05). Anorectal manometry showed that the balloon volumes were significantly different between the surgical group and the control group (P<0.01), and between the low defect group and the intermediate-high defect group (P=0.022). Balloon volume was significantly correlated with anal function scores (r=-0.30, P<0.05). CONCLUSIONS: EUS and anorectal manometry can provide objective assessment of postoperative anorectal anatomy and function in children with ARM.

High resolution MRI for preoperative work-up of neonates with an anorectal malformation: a direct comparison with distal pressure colostography/fistulography.

OBJECTIVE: To compare MRI and colostography/fistulography in neonates with anorectal malformations (ARM), using surgery as reference standard. METHODS: Thirty-three neonates (22 boys) with ARM were included. All patients underwent both preoperative high-resolution MRI (without sedation or contrast instillation) and colostography/fistulography. The Krickenbeck classification was used to classify anorectal malformations, and the level of the rectal ending in relation to the levator muscle was evaluated. RESULTS: Subjects included nine patients with a bulbar recto-urethral fistula, six with a prostatic recto-urethral fistula, five with a vestibular fistula, five with a cloacal malformation, four without fistula, one with a H-type fistula, one with anal stenosis, one with a rectoperineal fistula and one with a bladderneck fistula. MRI and colostography/fistulography predicted anatomy in 88 % (29/33) and 61 % (20/33) of cases, respectively (p = 0.012). The distal end of the rectal pouch was correctly predicted in 88 % (29/33) and 67 % (22/33) of cases, respectively (p = 0.065). The length of the common channel in cloacal malformation was predicted with MRI in all (100 %, 5/5) and in 80 % of cases (4/5) with colostography/fistulography. Two bowel perforations occurred during colostography/fistulography. CONCLUSIONS: MRI provides the most accurate evaluation of ARM and should be considered a serious alternative to colostography/fistulography during preoperative work-up. KEY POINTS: • High-resolution MRI is feasible without the use of sedation or anaesthesia. • MRI is more accurate than colostography/fistulography in visualising the type of ARM. • MRI is as reliable as colostography/fistulography in predicting the level of the rectal pouch. • Colostography/fistulography can be complicated by bowel perforation.

Pelvic floor in females with anorectal malformations--findings on perineal ultrasonography and aspects of delivery mode.

BACKGROUND: Advice on the mode of delivery to females born with anorectal malformation (ARM) is needed. The primary aim was to evaluate the anatomy of the pelvic floor muscles in females with ARM operated with posterior sagittal anorectal plasty (PSARP). The second aim was to correlate the extent of muscle defects to the bowel symptoms. METHODS: This interventional study with perineal 4D/3D ultrasonography describes the smooth muscles in the intestinal wall (neo-IAS), external sphincter, levators and anal canal using a muscle score (0-6 worst). The bowel symptoms were prospectively registered with Krickenbeck criteria score (0-7 worst). RESULTS: Forty females with different subtypes of ARM, median age 13 (4-21), were followed up regarding bowel symptoms. Seventeen were examined with ultrasonography. Bowel symptoms were similar for those examined with ultrasonography and those not, median score 5 and 3 (1-7) respectively, (p=0.223, Fisher's exact test). All the females had at least one muscular defect. There was no significant correlation between muscle defects and bowel symptoms (p=0.094, Spearman's correlation). CONCLUSION: Females with ARM have considerable defects in the pelvic floor without any significant correlation to bowel symptoms. All women with ARM would benefit from individualized predelivery evaluations and caesarian section should be considered.

Magnamosis: a novel technique for the management of rectal atresia.

We report a case of rectal atresia treated using magnets to create a rectal anastomosis. This minimally invasive technique is straightforward and effective for the treatment of rectal atresia in children.

Anorectal atresia with gross terminal colonic distension in Africa.

UNLABELLED: Anorectal malformation (ARM) is a group of significant birth defects with geographic variation in incidence, individual phenotypes and regional geographic subtypes occurring in approximately 1:5,000 live births. Anorectal atresia with gross terminal colonic distension in the presence of an absent anal canal has also been known as 'pouch colon' which is mainly associated with the Indian subcontinent. Its prevalence is unknown but it is rare, possibly representing a fraction of 1 % of ARM. The problem seems to revolve around the gross terminal distension of the distal pouch which remains a significant surgical challenge to surgeons resulting in poorer postoperative continence in many instances. AIM: This study set out to collate data on ARM patients with gross terminal distension of the distal pouch from Africa to evaluate its epidemiology and outcome in African patients. METHODS: Fifteen African paediatric surgical centres (7 South African and 8 African centres) were polled on the occurrence of anorectal atresia with gross terminal distension of the terminal bowel, an ARM variant. Data included ethnic group, age, gender as well as the anatomical pathology, classification and presence or absence of associated anomalies. RESULTS: Of 12 respondents, 8 (67 %) responded and sufficient data to classify and analyse were obtained from six of the eight positive replies (7 new cases). Abdominal X-ray showed a grossly dilated terminal portion of the colon in the presence of an imperforate anus. A colovesical fistula was observed in four (three males and one female cloaca). Three were associated with a colonic atresia, of which two were in the transverse colon and one in the sigmoid colon. Surgical corrective procedures were carried out in six, but one patient, with a cloaca, died prior to surgical correction. CONCLUSIONS: In this survey of 15 African centres, we have attempted to document the occurrence and presentation of anorectal atresia with gross terminal distension in Africa and report seven additional new cases. A possible association with associated conditions like colonic atresia requires further investigation.

Complete anal membrane in a female: a rare malformation and indication for prone cross-table lateral radiograph.

Magnetic resonance imaging (MRI) of a 27 week gestation female fetus suggested an abnormal rectum. Subsequent examination of the term newborn confirmed an imperforate anus present in the normal position. No meconium was seen on the perineum by 18 hours. A prone cross-table lateral radiograph confirmed that rectal gas was present 3 mm beneath the membrane leading to the diagnosis of complete anal membrane, and an anoplasty rather than a colostomy was performed.

Rare association in a female DSD case of phallus, accessory phallic urethra, perineal lipoma and anterior ectopic anus.

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.

Ascites, hydrocolpos, hydrometrocolpos with normal amniotic fluid in a fetus with partial urorectal septum malformation sequence.

Urorectal septum malformation sequence (URSMS) describes a range of anatomic anomalies in the urogenital and lower gastrointestinal organs caused by incomplete urorectal membrane septation and persistence of the cloacal membrane. Partial URSMS is a milder version characterized by a single perineal opening. We report a case of partial URSMS that associated an intact Mullerian system, single perineal opening, blind colon, imperforate anus and vagina, urethrovaginal connection, and ambiguous genitalia. Hydrocolpos, hydrometrocolpos, and ascites were seen in utero and confirmed on postnatal surgery. This case describes the changes in sonographic findings that evolved throughout the gestation.

Cardiac rhabdomyoma with LVOT obstruction and anorectal malformation in a neonate: a rare association.

Cardiac rhabdomyomas are described as sporadic as well as associated with tuberous sclerosis. Association with LVOT obstruction with anorectal malformation or imperforate anus has not been reported so far in published literature. In this case report we describe one such case.

Fetal bowel calcifications: a sign of anal atresia with rectourethral fistula.

Fetal bowel calcifications were observed at 24 weeks of gestation in a male fetus, suggesting an anorectal malformation (ARM) with rectourethral fistula. At birth, the newborn presented with complex ARM including anal atresia, rectourethral fistula, and esophageal atresia. The prenatal sonographic visualization of calcifications within distended bowel should raise the suspicion of ARM including anal atresia and rectourethral fistula, the presence of such calcification depending on the timing of onset of fistula formation.

Imperforate anus: determination of type using transperineal ultrasonography.

OBJECTIVE: This study was designed to assess the usefulness of transperineal ultrasonography (US) for the determination of imperforate anus (IA) type. MATERIALS AND METHODS: From January 2000 to December 2004, 46 of 193 patients with an IA underwent transperineal US prior to corrective surgery. Sonographic findings were reviewed to identify the presence of internal fistulas and to determine "distal rectal pouch to perineum (P-P)" distances. IA types were determined based on the sonographic findings, and the diagnostic accuracy of transperineal US was evaluated based on surgical findings. RESULTS: Of the 46 patients, 17 patients were surgically confirmed as having a high-type IA, three patients were confirmed as having an intermediate-type IA and 26 patients were confirmed as having a low-type IA. The IA type was correctly diagnosed by the use of transperineal US in 39 of the 46 patients (85%). In 14 of the 17 patients with a high-type IA, internal fistulas were correctly identified. All cases with a P-P distance > 16 mm were high-type IAs and all cases with a P-P distance < 5 mm were low-type IAs. CONCLUSION: Transperineal US is a good diagnostic modality for the identification of internal fistulas in cases of high-type IA and for defining the IA level.