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PubMed1999

Perineal-mound defects.

Perineal-mound (PMD) and genital-fold defects cause anorectal malformations (ARM) in both sexes. They are common in females and usually present as a low anomaly (except rectovestibular fistula). They are rare in males and present as an intermediate anomaly. A common embryological explanation for these defects with varied presentation in males and females is discussed. These anomalies should be grouped separately in the classification of ARM. We present five male patients with PMD, three of whom had imperforate anus with rectobulbar fistula and perineal hypospadias and two who had imperforate anus with rectoperineal fistula.

Anus, Imperforate↗

PubMed2001

Combined posterior sagittal and three-flap anoplasty in the repair of anorectal anomalies.

PURPOSE: The aim of this study was to describe a new technique for the repair of high and intermediate imperforate anus. METHODS: From 1989 to 1999, 22 children with high and intermediate imperforate anus (17 boys, 5 girls) were operated on with a combination of a posterior sagittal and 3-flap perineal anoplasty. Long-term clinical follow up (to a maximum of 10 years) was done in all patients as well as a recent phone interview with a questionnaire regarding bowel function and degree of satisfaction with the result of the surgical correction. A continence ratio (CR, patient score/maximum possible score) was obtained by a blinded interviewer. RESULTS: A continence survey was obtained in 19 patients. The average CR was 0.68. The CR for high anomalies was 0.62 and for intermediate anomalies was 0.78 (0.84 for girls and 0.64 for boys). Patients with sacral anomalies had a CR of 0.58. Two patients with Trisomy 21 had associated Hirschsprung's disease and were excluded from analysis. CONCLUSIONS: Advantages of this combined surgical approach are excellent anatomic exposure, the ability to limit rectal mobilization to a minimum, reduction of the incidence of mucosal prolapse, the new skin-lined anal canal may assist attainment of continence by providing a "sensory warning zone," and, finally, the cosmetic appearance is satisfactory.

Abnormalities, Multiple↗

PubMed1995

The Antley-Bixler syndrome: report of two familial cases with severe renal and anal anomalies.

UNLABELLED: The Antley-Bixler syndrome is characterized by premature closure of coronal and lambdoidal sutures, proptosis, depression of the nasal bridge, brachycephaly, radio-humeral synostosis and bowing of ulnae and femora associated with fractures. Most cases have been reported after birth with only one case diagnosed prenatally after recurrence of this autosomal recessive syndrome. The two present cases are of interest because of prenatal diagnosis of renal agenesis in the first case and early detection of clinical signs during the second pregnancy. Beside the unusual severity of the renal abnormalities, both cases had an imperforate anus in addition to the more common genital abnormalities. CONCLUSION: Renal agenesis and imperforate anus may occur in the Antley-Bixler syndrome.

Abnormalities, Multiple↗

PubMed1998

Kidney transplantation in patients with neurovesical dysfunction.

BACKGROUND: Five renal recipients with neurovesical dysfunction (NVD) were retrospectively reviewed focusing on anatomical and urodynamic abnormalities of the lower urinary tract and their management prior to kidney transplantation. METHODS: The underlying anomalies in these 5 patients were a posterior urethral valve (1 with an imperforate anus; n = 2), meningomyelocele (n = 2) and a congenital short urethra with an imperforate anus (n = 1). Their urinary tracts were evaluated prior to transplantation with voiding cystourethrography, urethrocystoscopy, cystometrography and electromyography of the external urethral sphincter to identify a possible focus of urinary tract infection, urine storage and voiding function. RESULTS: All 5 patients had NVD proven by urodynamic studies or by documentation of urinary retention in the absence of mechanical outlet obstruction. Bilateral high grade vesicoureteral reflux was noted in all patients, requiring ureteroneocystostomy. Clean intermittent catheterization (CIC) was ultimately employed for bladder emptying in all patients. Two patients with poor bladder compliance underwent augmentation cystoplasty before transplantation. The Mitrofanoff procedure was used in 2 patients with structural urethral abnormalities to access the bladder for catheterization. After eradication of possible sources of infection and establishment of a low-pressure urine storage system with bladder emptying by CIC, kidney transplantation was performed. Following kidney transplantation, all of the recipients were asymptomatic for urinary tract infections using CIC. Although 1 patient lost his graft due to chronic rejection, the other 4 other patients have good renal function. CONCLUSION: Kidney transplantation in patients with NVD can be performed provided that their urinary tract problems are properly resolved.

Adolescent↗

PubMed2004

Double atresia of hindgut with ileal stenosis: a case report.

An unusual case of imperforate anus with sigmoid colonic atresia and ileal stenosis is described. Only six cases of imperforate anus associated with colonic atresia have previously been reported in Japan. The possibility of other alimentary obstructions should thus be considered when anorectal anomalies are observed.

Abnormalities, Multiple↗

PubMed1990

Familial caudal dysgenesis: evidence for a major dominant gene.

Four sibs with varying degrees of caudal dysgenesis are described. Case 1 showed aberrant umbilical cord vasculature with a single umbilical artery near the placental insertion. Cases 2 and 3 showed full sirenomelia, one with a complex congenital heart defect. Case 4 had an imperforate anus and an excessively long umbilical cord. The father's half-sib had an imperforate anus, rectovaginal fistula and genitourinary anomalies. A dominant gene with reduced penetrance is likely.

Abnormalities, Multiple↗

PubMed2001

Pathophysiology of chronic constipation in anorectal malformations. Long-term results and preliminary anatomical investigations.

Posterior sagittal anorectoplasty provides an optimal access to reconstruct the muscle complex in anorectal malformations. It gives much better results than the abdominoperineal pullthrough procedures performed before 1984. However, severe chronic constipation occurs postoperatively in about 10 % of the patients, which can only be treated by washouts. Clinical investigations of 578 patients treated from 1962 to 1984 and from 1985 to 1997 are presented here and both groups are compared to each other. In addition, a new continence score with special regard to chronic constipation and overflow incontinence was used to follow up 133 patients of the second group. The score distinguishes between children above and below the age of 3 years. To study the underlying reasons of severe chronic constipation in children with anorectal malformations, macro- and microanatomical investigations on 4 normal newborns, 3 neonatal piglets with imperforate anus and 25 rectal biopsies from the caecum were performed. The following reasons have been found to be probably responsible for postoperative constipation and overflow incontinence: 1. Malformations of the smooth and striated muscle fibres or connective tissue of the caecum; 2. Malformations of the intramural nerve plexus such as aganglionosis, hypoganglionosis or IND; 3. Malformations and/or iatrogenic lesions of the extramural nerve supply which runs anterior to the rectum and in front of the fascia of Denonvilliers, which can hardly be identified in neonates with imperforate anus. Therefore iatrogenic bladder injuries may occur after PSARP after extended mobilisation of the caecum. The macro- and microanatomical situation in the piglet with imperforate anus is totally different from the human newborn.

Animals↗

PubMed2006

Is an anal plug useful in the treatment of fecal incontinence in children with spina bifida or anal atresia?

PURPOSE: We evaluated the efficacy and tolerance of the Conveen anal plug in children with spina bifida or anal atresia with persistent fecal incontinence necessitating diapers despite bowel management. MATERIALS AND METHODS: Seven 4 to 12-year-old patients with high congenital imperforate anus and 9 who were 6 to 13 years old with spina bifida, no mental retardation and no involuntary urine loss on clean intermittent catheterization were included in the study. During a prospective, 6-week crossover descriptive study after a test period to find the most comfortable plug with a diameter of 37 or 45 mm patients and parents completed a diary with the number of soiling episodes, stool frequency, stool consistency and the number of diapers used during 3 weeks without and with the plug, respectively. They provided a final assessment of the device. RESULTS: Two of the 7 patients with congenital imperforate anus discontinued use because of pain and discomfort, 1 had a decrease in soiling episodes and 4 achieved full continence and needed no diapers while using 2 plugs daily (range 1 to 4). All patients preferred the smaller plug. Two of the 9 patients with spina bifida always lost the plug within 1 hour after introduction, 5 had a decrease in soiling episodes but continued to need diapers and 2 achieved full continence using 2 plugs daily (range 1 to 4). All patients preferred the larger plug. CONCLUSIONS: The Conveen anal plug is an adjuvant treatment option for fecal incontinence in children with congenital imperforate anus or spina bifida, enabling a minority to stop using diapers. The Conveen anal plug is not a universal solution for fecal incontinence problems in these patients.

Anus, Imperforate↗

PubMed1997

Classification of anorectal malformations--initial approach, diagnostic tests, and colostomy.

The optimal surgical care of patients with imperforate anus begins with appropriate decision making in the critical newborn period. In most cases the decision to create a colostomy should be delayed until the infant is 18 to 24 hours old. Except in cases of a rectoperineal fistula, most neonates are best treated with a completely divided left-lower-quadrant colostomy between the descending and sigmoid colons. Female patients with cloacal anomalies must be recognized at birth so that all urgent urologic evaluations can be performed. Hydrocolpos and obstructive uropathy are common in these neonates and warrant urgent decompression of the urinary tract with a vaginostomy and/or vesicostomy as well as a colostomy. Renal ultrasonography and voiding cystourethrography are mandatory for all patients regardless of the height of the defect. It is critical to discover the important precursors to renal insufficiency including renal agenesis, renal dysplasia, and vesicoureteral reflux in the neonate. The presence of these anomalies mandates early consultation with a pediatric urologist because the morbidity and mortality of these lesions often exceed those of the imperforate anus. Spinal cord anomalies are common and can be found even in patients who have normal plain films and low defects. Spinal ultrasonography or magnetic resonance imaging should be performed in all neonates to rule out occult spinal pathology such as tethered cord or lipoma of the cord. Efficacious and cost-effective care of patients with imperforate anus begins with a carefully thought out plan in the neonate. Optimal execution of the evaluation and surgical treatment at this phase sets the stage for the best possible outcome later in life.

Abnormalities, Multiple↗

PubMed1984

The pathogenesis of hereditary congenital malformations of the anorectum in the pig.

The pathogenesis of anorectal malformations was studied in 41 abnormal embryos, foetuses and newborn pigs descended from a herd in which this anomaly was caused by a hereditary trait. The principal development error was found to be situated in the cloacal plate, of which a dorsal part of variable size was missing. This defect impeded the normal migration of the dorsal cloaca and adjacent structures along the dorsal border of the plate to the body surface of the tailgroove. Correlated to the size of the cloacal plate defect diverse types of anorectal malformations may develop ranging from slight abnormalities such as anal stenosis and perineal or vulvar ectopic anus to more serious anomalies such as imperforate anus of low, intermediate and high types. In the cases with imperforate anus a communication with the urogenital system is always formed, although it may disappear later in some animals. This communication which represents a persistent cloaca, has to be considered as an ectopic anorectal canal according to its origin and structure. The abnormalities of the internal and external sphincter ani muscles and puborectal muscles are secondary although distinctly correlated to the malformations of the epithelial structures.

Abnormalities, Multiple↗

PubMed1985

Urologic implications of anorectal malformations.

The urologist has assumed a major role in the management of the child with imperforate anus. Fistulas from the rectum to the urinary tract, as well as associated genitourinary anomalies such as vesicoureteral reflux, make the urologist an important member of the team managing imperforate anus. Special spheres of urologic interest occur immediately (when accurate imaging is important), during the first year (when urinary tract infections and acidosis may occur), and in later childhood and adolescence (when the management of neurogenic bladder or complications of previous repairs of the anorectal anomaly are important).

Acidosis↗

PubMed1990

Thymic-renal-anal-lung dysplasia in sibs: a new autosomal recessive error of early morphogenesis.

We report on 3 sisters with a syndrome of unilobed or absent thymus, renal and ureter agenesis/dysgenesis, and intrauterine growth retardation (IUGR). Two of the 3 infants had a unilobed lung and imperforate anus. Recurrence was detected prenatally by the presence of progressive oligohydramnios and IUGR, a unilateral echogenic cystic mass in the renal fossa, and low amniotic fluid disaccharidases in association with an imperforate anus. Several genetic mechanisms can be invoked to explain this occurrence including autosomal recessive inheritance and an unrecognized chromosome imbalance.

Abnormalities, Multiple↗

PubMed1987

Direct sagittal CT scan: a new diagnostic approach for surgical neonates.

Because of their small body size, neonates can be placed in the plane of the CT scanner gantry (aperture diameter 70 cm) instead of across it. This direct sagittal scanning technique allows accurate delineation of surgical lesions, particularly midline ones, unobtainable with conventional axial imaging. In addition, the sagittal image provides a perspective of anatomic arrangement more familiar to the surgeon than that provided by axial sections and therefore allows for easier interpretation. In imperforate anus, sagittal CT identifies the blind rectal end by the meconium tissue interphase and therefore avoids the pitfalls of invertogram, which depends on the bowel gas pattern for interpretation. With this new approach, we correctly classified six cases of imperforate anus into high types (3) and low types (3), visualized the associated fistula and had knowledge of the exact distance of the blind rectal end from the skin level preoperatively. In tracheoesophageal fistula (2), sagittal CT demonstrated the air-filled blind pouch and fistula to allow preoperative classification and assessment of the gap distance. In sacrococcygeal teratoma (3) and laryngeal cyst (1), its use allowed an accurate assessment of possible extension of the lesion into neighboring structures. Our experience with direct sagittal CT scan therefore suggests that this new and noninvasive technique is a useful adjunct in the management of a variety of common neonatal surgical problems.

Anus, Imperforate↗

PubMed1996

[Cryptorchidism in boys with anal atresia].

In a retrospective study of the case reports of 136 boys who were operated on for an imperforate anus and who survived at least 18 months, cryptorchidism was the most common associated anomaly, involving 26 cases (19%). The higher the level of the anorectal malformations, the higher was the incidence of cryptorchidism. The incidence of renal and ureteric malformations and dysplasias showed a parallel tendency. The incidence of vertebral malformations and dysplasias in the T10-S5 area was low among patients with a covered anus or a perineal fistula. Cryptorchidism was found to be associated with urological and with T10-S5 vertebral malformations and dysplasias. Recognition of this association is probably new. The histopathological findings of testicular biopsy specimens and the location of the undescended testes in patients with an imperforate anus showed the same pattern as seen in undescended testes from patients with cryptorchidism only. These findings, together with the existing literature on the subject, indicate that further studies on the association of cryptorchidism, urological, and T10-S5 vertebral malformations and dysplasias may be important for a better understanding of cryptorchidism in general.

Abnormalities, Multiple↗

PubMed2000

OEIS complex--a population study.

Using a novel method for the analysis of infants with multiple malformations, we investigated the cluster of associated malformations called the OEIS (omphalocele, bladder exstrophy, imperforate anus, spine defect) complex among 5,260 infants with multiple malformations identified in four large registers of congenital malformations, corresponding to 5.84 million births. The existence of the OEIS complex was clearly demonstrated and malformations entering it could be defined. Other than the four classical malformations, omphalocele, bladder exstrophy, imperforate anus, and spine malformation, a strong association with spina bifida and intersex was stressed. Spine malformations occurred not only in the lumbosacral level but also more cranially, and an association also with upper spina bifida could be demonstrated. No specific association with any other malformation, including cardiac defects, was apparent. The OEIS complex is an unusually clearly defined entity among the various nonrandom associations which have been described.

Abnormalities, Multiple↗

PubMed1983

Anorectal continence following sphincter reconstruction utilizing the gluteus maximus muscle: a case report.

Rectal incontinence following pull-through procedure for high imperforate anus remains a difficult problem. Based on recent knowledge of the segmental neurovascular supply of the gluteus maximus muscle, the inferior half of the muscle on both sides was used for anorectal sphincter reconstruction on a 10-year-old boy who was totally incontinent following a pull-through procedure for a high imperforate anus. The technique of constructing this sphincter is simple and utilizes principles of muscle tendon transfer without jeopardizing the function of gait. Furthermore, the gluteus maximus muscle, being an accessory muscle of anal continence, is an ideal structure for this reconstruction. Colostomy can be prevented with the use of good preoperative bowel preparation and a constipating program for 1 week postoperatively. The results are directly related to the success of the operative procedure, and the maturity and degree of motivation of the child to undergo bowel-control training.

Anal Canal↗

PubMed2005

Congenital Spigelian hernia with cryptorchidism: probably a new syndrome.

Nearly 28% of pediatric Spigelian hernias reported in the literature are associated with ipsilateral cryptorchidism. However, the pathogenetic relationship between the two has not been satisfactorily explained in the past. This paper describes a male neonate born with cryptorchidism and imperforate anus. Anal stenosis following the treatment of imperforate anus had let to the development of multiple hernias including Spigelian hernia on the right side. Surgical exploration revealed the right testis being located within the Spigelian hernia. Based on the sequence of events, it is hypothesized that Spigelian hernia in this case is a sequela of maldescended testis and raised intraabdominal pressure. As this explanation is also applicable to all of the previously reported cases, the author suggests that the combination of Spigelian hernia and ipsilateral cryptorchidism could probably form a hitherto unrecognized new syndrome.

Cryptorchidism↗

PubMed1976

Studies of malformation syndromes of man XXXXIA: anatomical studies in the Hanhart syndrome--a pathogenetic hypothesis.

Two infants with the Hanhart syndrome, i.e. micrognathia, microglossia, terminal deficiency of all limbs and imperforate anus in one, were dissected and studied in detail. The interrelationships of the muscular and skeletal defects suggested that they were the result of incomplete rather than abnormal morphogenesis. We speculate that the oral and limb abnormalities resulted from deficient mesodermal proliferation caused by disturbances in the ectodermal-mesodermal interactions beginning about the 4th week of development. The imperforate anus may also relate to the proposed defect.

Abnormalities, Multiple↗