Search

There is little current literature on the augmented-pressure distal colostogram, the single most important diagnostic study performed in boys with imperforate anus prior to definitive repair. Accurate understanding of the anatomy of the anorectal malformation including an associated fistulous communication between the rectum and the urogenital tract is essential for optimal surgical management. Specifically, the position of the rectal pouch and recto-urinary fistula relative to posterior sagittal structures of the perineum, especially the sacral spine, dictates the operative approach. This pictorial essay is a guide for those who encounter such children with relative infrequency to become more comfortable with the technique. We report how to perform this radiologic exam and the potential pitfalls from our experience of performing the technique in our large pediatric colorectal practice.

Radiological imaging is paramount for defining the genitourinary fistulae commonly associated with anorectal malformations prior to definitive surgery. The imaging options are resource-limited in many parts of the world. Nonfluoroscopic pressure colostography after colostomy is a cheap method for the evaluation of anorectal malformations. To describe our experience with nonfluoroscopic pressure colostography in the evaluation of anorectal malformations in boys. The study included 12 boys with anorectal malformation who had colostomy and nonfluoroscopic pressure-augmented colostography with water-soluble contrast medium between January 2006 and December 2007. Patient ages ranged from 2 days to 1 year. The types of genitourinary fistula were rectovesical (7.7%) and rectourethral (92.3%). Oblique radiographs were of diagnostic value in all patients. The types of anorectal malformations were high, intermediate and low in 75%, 8.3% and 16.7%, respectively. Short-segment urethral constriction was a common feature of rectourethral fistula (75%, n=9). Our experience has shown that genitourinary fistulae associated with anorectal malformations can be demonstrated reliably by nonfluoroscopic pressure colostography with two oblique radiographs, providing an option in resource-poor settings where fluoroscopic equipment is scarce.

We report a case of a persistent cloaca and pseudoexstrophy associated with congenital pouch colon in a native-born American female child. This unusual anomaly occurs in two clinical settings. It has been reported in India as an isolated anomaly occurring primarily in males. Pouch colon also occurs in female patients with pseudoexstrophy or closed cloacal exstrophy. The typical anatomic features of this anomaly are discussed.

We report three patients with imperforate anus and other stigmata of the VATER syndrome who were diagnosed as having tracheoesophageal (TE) fistula, H-type, with intact esophagus. The fistula was diagnosed in two of the three patients only after recurrent respiratory infections.

The voiding cystourethrogram (VCUG) is the most frequently performed fluoroscopic examination in pediatric radiology departments for the investigation of the lower urogenital tract in children. Avariety of clinical indications exists and include urinary tract infections (UTI), vesico-ureteral reflux (VUR), prenatal hydronephrosis, congenital renal anomalies, posterior urethral valves (PUV), bladder diverticula, hypospadias, cloacal abnormalities, Mullerian duct remnants, imperforate anus, bladder and urethral trauma, hematuria, urolithiasis, renal transplantation and assessment of the unstable bladder [1–3]. The VCUG is not likely to be replaced any time soon. If one only considers vesicoureteral reflux, an estimated 50,000 children are diagnosed with VUR after urinary tract infection each year in the United States [4]. The number of children undergoing screening examinations, therefore, is likely in the many hundreds of thousands. The VCUG examination requires transurethral catheterization (excluding suprapubic puncture), instillation of contrast agent for bladder filling, and voiding under direct fluoroscopic imaging. Optimal evaluation includes an awake and cooperative child, limited and optimized image acquisition utilizing last-image-hold techniques and pulsed digital fluoroscopy units, minimal radiation burden and a short examination time [1, 5]. The vast majority of VCUG examinations are performed primarily on an outpatient basis, unfortunately often with little or no preparation of the child or parent [6]. The VCUG examination can therefore be perceived as a painful investigation associated with high levels of distress and anxiety for the child, parents and even the medical staff [1, 6–14]. The VCUG experience has been described by one author as follows: “The child may be separated from his or her parents; his or her legs and genitalia are spread apart, often forcibly; probing and intruding into a “private” area not usually touched by strangers; firm pressure may be used to clean the genitalia; a urinary catheter is inserted; and the child must tolerate the discomfort of an unusually full bladder and the indignity of voiding in public. As the child lies flat and still, cold and exposed, huge cameras approach within inches of his or her body and rotate around it” [6]. If this description of the VCUG is the perception of the lay public, then it is not surprising that an uninformed parent would desire, if not demand, that their child be sedated, preferably with general anesthesia. This misunderstanding is certainly doing our families and patients a great disservice. Unfortunately, many children have been irreparably traumatized by previous catheterizations as well as other invasive medical procedures and the mere thought of undergoing an unknown or repeat procedure is unbearable. I believe the use of sedation is entirely appropriate in these patients. As a pediatric radiologist, it is my job to provide the safest, most productive and least distressing examination possible. In my opinion, however, if thorough pre-test preparation of the parent and child were combined with appropriate catheterization techniques, the VCUG examination could be performed without the need for sedation in the vast majority of patients. The first component of this discussion revolves around patient education. The VCUG examination process actually begins in the ordering physician’s office. First and foremost, the physician needs to communicate to the family the reason for the examination, its medical importance to the health of Related articles can be found at doi:10.1007/s00247-011-2322-x and doi:10.1007/s00247-011-2323-9).

We report a newborn with an esophageal lung, a rare type of communicating bronchopulmonary foregut malformation (CBPFM). Associated findings included esophageal atresia, tracheoesophageal fistula (TEF) to the distal esophagus, duodenal stenosis with annular pancreas, imperforate anus, vertebral anomalies and ambiguous genitalia. Radiologic evaluation included chest radiographs, esophagrams, chest ultrasound and chest CT. After colostomy and surgical repair of duodenal stenosis and TEF, a right thoracotomy was performed to treat an esophageal lung. Radiologic features of this unusual variant of CBPFM are presented. Accurate preoperative imaging diagnosis is essential for planning surgical treatment of an esophageal lung.

The purpose of this paper is to provide a review of the anorectal fistulas occurring in male imperforate anus, with a suggested classification based on the site of termination of the fistula, namely, the bladder, the urethra, and the perineum. The fistulas included in these categories are discussed in some detail, with reference to previous cases or descriptions in the literature and with some personal observations.

Gastrointestinal (GI) duplications contain tissue resembling several portions of the GI tract and are associated with vertebral and genitourinary (GU) abnormalities [1–4]. We report a newborn with low, imperforate anus and lumbosacral dysraphism, who presented with a large cystic mass in the left renal fossa and pelvis. The flank mass (felt initially to be a dysplastic kidney and ureter) proved to be a complex GI duplication with histologic evidence of gastric, small bowel, and colonic mucosa, as well as respiratory epithelium and pancreatic tissue.

We present a case of an 80-day-old boy with major anomalies consistent with polyoligodactyly/imperforate anus/vertebral anomalies (PIV) syndrome. In addition, he had facial abnormality, tetrapolyhypodactyly, and sacral meningocele. Polydactyly was of postaxial and central types, and all the distal phalanges were absent. The association of such anomalies enabled pinpointing of the development of this complex anomaly from the 4th to the 6th weeks of the embryonic phase. This condition is extremely rare, and the estimated incidence is 3 in one billion.

Most newborns with imperforate anus, except for those with very low varieties, undergo a diverting colostomy performed in the postnatal period, with definitive surgical repair at a later age. Accurate demonstration of the anatomy of any associated fistula between the rectum and urogenital tract is essential for optimal surgical management. An augmented-pressure distal segment colostogram is recommended prior to definitive repair, both to confirm the level of rectal atresia and to define any associated fistulous communication. We report a case of high imperforate anus with rectourethral fistula in which the fistulous tract was not identified on the conventional contrast colostogram but was readily delineated when an augmented-pressure modification of the technique was utilized. The technical aspects of augmented-pressure colostography are presented.

Recto-vaginal fistula is well known to occur in association with imperforate anus. We describe the case of an isolated "H-type" recto-vaginal fistula with no other anorectal abnormalities. The patient presented at 2 months of age with a vulval abscess and passing faeces per vaginum. Unilateral renal agenesis was also seen in this patient. We are unaware of any previous reports in the English-language literature of this isolated abnormality.

Four cases of anal agenesis with rectobulbar fistula, a rare type of anorectal anomaly, are described along with the preferred mode of radiological investigation to demonstrate the fistula.

The radiographs of 230 children who had undergone neonatal surgery for imperforate anus and/or esophageal atresia/tracheoesophageal fistula were reviewed. Of the 31 children with limb anomalies thus detected, the 24 who had no radiologic or laboratory evidence of chromosomal abnormality form the basis of this report. In 16 children the limb anomalies fell within the commonly described spectrum of the VATER association. In the other 8 children and in 3 of the children with typical VATER limb anomalies additional anomalies were encountered: Sprengel deformity [2], hypoplasia of the humerus [3], radioulnar synostosis [1], midline anomalies of the hand [1], absence of the pubis, femur, tibia, and fibula and two rays of the foot [1], and other foot deformities. Subtle anomalies of the hand were common and included: clinodactyly, syndactyly, shortening of the middle phalanx of the fifth digit, and rotary malposition of the digits.

Two patients with the prune belly syndrome demonstrated colon calcifications and anorectal malformations. Bladder outlet obstruction was present in both cases. Calcifications were also found in the renal collecting system and bladder of one patient. No fistula was demonstrated between the genitourinary tract and bowel in either infant at autopsy. The calcification in the colon and urinary tract is probably secondary to stasis.

This case illustrates a complex of congenital ano-rectal and renal abnormalities not previously reported. Colonic urcteral ectopy, an extremely rare occurance, was also found in this patient and an explanation of the probable embryogenesis is proposed. The roentgen pattern of intraluminal calcified meconium is also illustrated.

Enterolithiasis has been previously described as a plain film finding of rectovesical or rectourethral fistula in patients with anorectal malformation. Two cases of enterolithiasis with anorectal malformation are described in which the intraluminal nature of the calcifications was identified using ultrasound. The use of ultrasound for this purpose has not been previously reported to our knowledge. This simple, noninvasive technique permits antenatal differentiation between enterolithiasis and meconium peritonitis in some patients and can suggest the prenatal diagnosis of rectourinary communication when enterolithiasis is present. In addition, one of our cases occurred in a female. The entity of enterolithiasis with imperforate anus in a female has not been previously reported.

The combination of tracheoesophageal and pulmonary malformations is unusual and reportedly carries a high mortality. We have observed six patients with esophageal atresia and tracheoesophageal fistula and one with a bronchoesophageal fistula who had associated bronchopulmonary anomalies ranging from lobar hypoplasia and agenesis to unilateral pulmonary hypoplasia or agenesis. All of the pulmonary malformations were right-sided. Vertebral or rib anomalies were present in five patients, congenital heart disease in two, imperforate anus in one and one patient had radial aplasia and Pierre Robin syndrome. The bronchopulmonary anomalies complicated the surgical care of tracheoesophageal malformations and required radiologic differentiation from aspiration pneumonia and atelectasis. Six of the seven patients survived. Mortality and morbidity were related to complications and associated cardiac anomalies as well as severity of the lung anomaly.

The utilization of percutaneous injection of water-soluble iodide contrast media in evaluation of the position of the atretic rectal pouch in cases of imperforate anus is presented. This method demonstrates the exact site of atresia and often the origin of rectal fistulae. This method presents a more exact demonstration of an anatomic defect preparatory to surgery.

Association of imperforate anus and Hirschsprung's disease is rare, the incidence of both events occurring together would be one child out of every 25 million live births. A case of "cat-eye" syndrome with association of high imperforate anus and long segment Hirschsprung's disease is presented.

A large perirectal mucocele developed in a child over an 11-year period following repair of an imperforate anus. Renal failure and large bowel obstruction secondary to compression by the mass were the presenting symptoms. Computed tomographic evaluation of the pelvis was critical for preoperative assessment of this previously unreported complication of imperforate anus repair.