Multidisciplinary Behavioral Treatment

In the Nijmegen behavioral treatment protocol, developed at the Radboud University Nijmegen Medical Centre, defecation problems are considered to be the result of a dysfunctional interaction between the organ, which is impaired by the ARM, and behavioral factors 13 . To have a bowel movement, there has to be rectal filling. In healthy children this will lead to a sense of urge, which induces a defecation reflex and results in an empty bowel. For children to become continent, there has to be an...

Introduction

The colon absorbs water from the stool and serves a reservoir function. These processes depend on colonic motility, which is an area of physiology that is not well understood, and for which treatments of problems are limited. In normal individuals the rectosigmoid stores the stool, and every 24-48 h develops active peristaltic waves indicating that it is time to empty. A normal individual feels this sensation and decides when to relax the voluntary sphincter mechanism. Patients with anorectal...

References

Stephens FD, Smith ED (1971) Anorectal Malformations in Children. Year book Medical Publishers, Chicago 2. Stephens FD, Smith ED, Paul NW (1988) Anorectal Malformations in Children Update 1988. Alan R. Liss, New York, March of Dimes Birth Defect Foundation, Birth Defect Original Series Vol 24 4 3. Holschneider AM, Koebke J, Meier-Ruge W, Land N, Jesch NK (2001) Pathophysiology of chronic constipation on anorectal malformations. Long-term results and preliminary anatomical investigations. Eur J...

ARM Patterns of Occurrence

The reported incidence of ARM is 1 in every 2,5005,000 live births 6,7 , but may be even more frequent in certain developing countries (Table 3.1) 1,6,8-25 . Although ARM comprise approximately 0.2-0.3 births 26 , they have been reported to comprise up to 1.2 of reported birth defects 16 . From an epidemiological point of view, there is little clarity as to the Table 3.1 Incidence of anorectal malformations (ARM) Table 3.1 Incidence of anorectal malformations (ARM) real prevalence, epidemiology...

Medical Management

The initial treatment is medical and depends upon the consistency of the stool, as judged by digital examination. Fecoliths may need digital disimpaction and saline washouts with a large rectal tube and funnel, whereas semisolid or soft impactions can be liquefied by enemas and catheter irrigation or suppositories. Evacuation of hard feces may entail daily washouts for several days, followed by less rigorous measures on a diminishing scale (i.e., bowel washouts, irrigations, or enemas three...

Group C Sequelae of Constipation

Group C includes those patients referred to our institution because of fecal incontinence who actually had untreated severe constipation, chronic impaction, and therefore suffered from overflow pseudoincontinence. All of these patients have several factors in common. All were born with a malformation with good functional prognosis and underwent a technically correct, successful operation. Postoperatively, they all had severe constipation which was not adequately treated and developed...

Prognostic Factors

The level of the rectourogenital connection is an important prognostic factor of bowel function. Males with a bladder-neck fistula and females with a high-confluence cloaca 8 have worse prognosis than patients with a lower connection. It has been shown clearly that the bowel function of patients with intermediate anomalies (rectobulbar fistulae in males, low-confluence cloacae and rectovestibular fistulae in females) is better than of those with higher anomalies 28,38 . The obvious cause of...

Conclusion Of Anorectal Malformation

The reconstruction of anal sphincters is much improved by preservation of the blind pouch, but rectal motility remains disturbed. It has become apparent that there should be an equilibrium between the propagating forces of propulsive waves from the normal colon down to the rectum and the stool-retaining forces of the anorectal pressure barrier. However, this state of balance is frequently disturbed by reduced motility of the blind pouch on one side and lowered anorectal resting and squeeze...

Long Term Bowel Function During Childhood

Reported long-term functional outcomes in patients with high ARM are highly variable. Most series grade the results as good, fair, or poor. It has to be remembered that a good outcome does not mean that the patient has a normal bowel function. Patients with a good result have usually been considered socially continent, which implies that the defects in bowel function do not cause significant social disability. Prior to PSARP the reported percentages of patients, evaluated with clinical...

Objective Methods

Manometric assessment has been the principal method used to obtain objective data of postoperative sphincter function. However, there is no standard for manometric evaluation. Some authors 34 have used single, fluid-filled balloons in the anal canal. Balloon devices allow only stationary measurements others 35,36 favor, therefore, the open-tip perfused catheter method. The numerical pressure recordings in stationary and dynamic studies are not directly comparable the values of manometric...

Epididymis Vas and Ejaculatory Ducts

There is an increased incidence of epididymitis in ARM boys and this is seen prior to and after surgical closure of rectourinary fistula 8,35 . The exact mechanism for this is unknown, but abnormalities such as urethral strictures, ectopic ureters, diverticulum at the previous fistula site, and a neurogenic bladder may all be contributory factors. Ectopia of the vas has been reported 28 , and Wolffian duct abnormalities are more common on the same side as renal anomalies 23 . The vas and...

Treatment

Patients with anorectal malformations and severe constipation in whom dietary measures or gentle laxatives do not work require a more aggressive regimen. It cannot be overemphasized that the treatment must start early. Drugs designed to increase the motility of the colon are best, as opposed to medications that are only stool softeners. As discussed, softening of the stool without improving the colonic motility will likely make the patient worse, because with soft stool they no longer have...

Urinary Tract Problems

Urinary tract anomalies occur in more than 40 of all patients with ARM. It is not unexpected that urologi- Table 28.4 Functional outcome in adults - high malformations operated before the era of PSARP Table 28.4 Functional outcome in adults - high malformations operated before the era of PSARP cal long-term morbidity is common. The incidence of long-term urological morbidity is difficult to assess because only a few long -term follow-up reports have specifically addressed urological problems....

Clinical Features

Although a female male ratio of 2-3 1 is reported in the literature 5 , all the four cases in the author's series were males. The presentation of a rectal duplication depends on the following factors (1) the size and therefore the mass effect of the duplication, (2) the presence of a fistula, (3) infection in the duplication, (4) the presence of ectopic gastric mucosa with ulceration, and (5) malignant degeneration. Rectal duplications are rarely symptomatic during the immediate neonatal period...

Psychosexual Problems

Apart from the psychological burden of repeated surgery, growth retardation, incontinence, stomas, catheters, and neuromotor disabilities, gender identity can be a major problem in later years, especially in genetic males. If reared as boys, the phallus is inadequate and lacks erectile and ejaculatory function 27,38 . The testes are often undescended 44 . When reared as girls, some children have revolted against the assigned female role and declared themselves as boys, even without prior...

The Pelvic Floor and External Anal Sphincter in ARM

The work of Pe a has had a major influence on our understanding of the anatomy in these congenital anomalies see also Chaps. 6 and 7 . We have read, digested, and found the structures he has described. Imaging techniques have supported his interpretations and recent human studies have consolidated rather than refuted his concepts of the presence of potential striated muscle tissue - designated, but not used for the formation of an external anal sphincter 88, 119 . A spectrum of deformities as...

ARM a Historical Overview

Anorectal Anomalies in the Twentieth Post World War II Era 1945-1980 . . .5 ARM in the Twenty-First Century . . . 10 Anorectal malformations ARM are relatively frequently encountered anomalies that represent an important component of pediatric surgical practice. Many in our profession have a significant interest in the management of the numerous variants of ARM that affect both boys and girls. This chapter will attempt to bring the reader up to date through a historical overview of these...

Long Term Evaluation

All ARM patients who are diagnosed with a genitourinary malformation, spinal cord abnormality, or bladder dysfunction on initial assessment, and all cloaca patients require regular review. Patients with renal abnormalities and vesicoureteric reflux should have serial ultrasound scans to monitor their renal status. In patients suffering from urinary tract infection, whatever the etiology, a Tc-99m dimercaptosuc-cinic acid renogram is recommended to diagnose renal scarring. Gynecological...

Discussion

Laparoscopy-assisted anorectal pull-through seems to achieve some of its stated goals. There does not seem to be any question that the centrality of the pull-through inside the sphincter complex is achieved successfully. In addition, there appears to be less scarring with the laparoscopic approach when compared to the PSARP approach, as demonstrated by magnetic resonance imaging 11 . Long-term follow-up for fecal continence has yet to be determined. Because the internal sphincter is not well...

Bowel Management Program

The bowel management program consists of teaching the patient or his her parents how to clean the colon once daily so as to stay completely clean in the underwear for 24 h. This is achieved by keeping the colon quiet in between enemas. The program, although simplistic, is implemented by trial and error over a period of 1 week. The patient is seen each day and an x-ray film of the abdomen is taken so that they can be monitored on a daily basis for the amount and location of any stool left in the...

The Gastrointestinal Tract

Contrast studies showed blind-ending colon in 10 out of 12 children, malrotation in 5, large bowel duplication, appendiceal duplication, and short bowel. Hus-mann et al. accurately measured small bowel length in 22 children with cloacal exstrophy. In two children, bowel length was less than 70 cm normal gt 200 cm 19 . Soffer measured colonic length in 21 patients with cloacal exstrophy and noted that 12 had a normal-lengths colon. In four patients the lengths ranged from 20 to 70 cm, while in...

The Internal Anal Sphincter

This is the terminal portion of the inner circular smooth muscle layer of the rectum. The functional importance of this muscle is emphasized, as incontinence after anal surgery is characterized by the virtually universal presence of an internal sphincter injury resulting in a reversal of the normal resting pressure gradient in the anal canal 67,115 . The internal anal sphincter in the adult human has recently been described as being composed of 26 rings, flat ring-like slats, of smooth muscle...

Intestinal Neuronal Dysplasia

If we accept that the terminal part of the fistula not only represents, but is also structurally similar to the proximal anal canal, then it follows that its intrinsic nerve supply and neuronal plexuses will conform anatomically with that present in the normal anal canal 99 . The nearer the opening of the fistula is to the normal anatomical position of the anus, the greater the similarity would be expected to be. The appearance of the internal anal canal mucosal surface in many instances does...

Risk Factors in the Development of Cloacal Exstrophy

In an analysis of 232 families with the exstrophy-epi-spadias complex, increased maternal age has been postulated as a risk factor and was highest in the cloacal exstrophy group at 31.5 years 17 . In a case-control series of 26 children with cloacal exstrophy, retrospective review of antenatal ultrasounds has suggested the presence of twin hearts and two fetal poles in a significant number of these fetuses 20 . The authors have suggested that these blighted twin pregnancies resulted in the...

Two Manifest Abnormal Openings

Rectovesical Fistula

In boys, this is a very rare anomaly. Aleem et al. 1 described a case with a perineal and a penoscrotal fistula, and Prasad 1970, personal communication described a case with a rectovesical fistula and a patent stenotic anus. Rintala and Jarvinen 56 described five cases, two had rectovesical and anoperineal fistulas, two had anoperineal and urethral fistulas, and one had a fistula between the midurethra and a scrotal ec-topic anal opening. Wakhlu et al. 77 had four cases three had two openings...

Rectourinary and Rectovaginal Fistulae

Patients may have various types of rectogenitourinary tract fistula complications. Fistulae can be persistent when the original rectourethral fistula remains untouched during the main repair, even when the rectum was repaired. Recurrent fistulae may occur if the surgeon repaired the fistula but it reopened. Acquired rectourethral fistulae are those that are inadvertently created during the repair of a malformation 7 . Acquired rectovaginal fistulae can occur during a failed attempt at repair of...

Incontinence Requiring Reoperation

Reoperation to improve a patient's functional prognosis is indicated in several circumstances. During the first 5 years of our experience, reoperative surgery was performed on every patient we evaluated who underwent a repair at another institution and suffered from fecal incontinence. During those years, we hoped that the new posterior sagittal approach would give these patients an opportunity to recover bowel control. When the results were evaluated 3,4 , only 30 of those patients experienced...

Continence and the Mechanism of Defecation in Normal Individuals

The most important physiological factors contributing to fecal control in normal individuals are a normal propulsive activity of the rectum, good rectal wall compliance, a high resting tone, contractility of the smooth and striated anal sphincters, and intact sensation. It is important to remember that 70-80 of the anorectal resting pressure profile is established by the internal anal sphincter. The striated muscle fibers of the external anal sphincter and pelvic floor muscles are an additional...

Children with Constipation Colonic Hypomotility

In these children the motility of the colon is significantly reduced. The basis of the bowel management program is thus to teach the parents to clean the child's colon once a day with a suppository, an enema, or colonic irrigation. No special diet or medications are necessary in these cases. The fact that they suffer from constipation hypomotility is very helpful, as it guarantees that they will remain clean in between enemas. The real challenge is to find an enema that is capable of cleaning...

The Pelvic Floor

The sheet-like muscle of the pelvic floor has been arbitrarily divided into seemingly different muscles based on their site of origin and perhaps insertion. This is of no practical importance to the pediatric surgeon. Furthermore, conventional morphologic descriptions, those of the anatomist, are of limited value to the clinical practitioner 12 . They do, however, form the basis, the core, around which the pelvic structures can be discussed. In practice what can be visualized in the living...

Continence Function HAQL

In the outcome classification of Krickenbeck, three domains are separately evaluated voluntary bowel movement, soiling and constipation. With the data of our survey we obtain from the simplified definition of voluntary bowel movement according krickenbeck-agreement Table 37.3 , because we see inconsistency in this item. But ist was possible to operationalise the soiling domain with data from the HAQL. The constipation domain of the new Krickenbeck classification works with several assumptions....

Two Hemivaginas Attached to the Bladder Neck

Vaginal Replacement

In the highest type of cloaca one may find two little hemivaginas attached to the bladder neck or even to the trigone of the bladder. In these cases, the rectum also opens into the trigone. Separation of these structures is performed abdominally. Unfortunately, when that separation is completed, the patient is frequently left with no bladder neck or a severely damaged blad Fig. 22.13 A Vaginal replacement with small bowel, using the portion with the longest mesentery. B Pulling the small bowel...

Tethered Cord Surgery

The decision for surgical treatment of tethered cord in patients with ARM is controversial. Patients suffering from progressive motor or sensory deficits are unanimously considered good candidates for surgery 7-9,11 . The relationship, however, between faecal and urinary abnormalities and spinal cord tethering is highly questionable in the context of caudal dysplasia with ARM 2,13 . The natural history of patients with ARM appears to harbour only a low risk of neurological deterioration 2,7 ....

The Perineum and Perineal Body

The urogenital hiatus is bridged by a diaphragm, the fibrous perineal membrane. This is triangular in shape as it spans the inferior ischiopubic rami from the pubis to the ischial tuberosities. Posteriorly, the superficial and deep transverse perinei run along its free edge 102 . The genitalia are attached to its inferior surface. The perineal body is a point of fusion at the posterior free edge of the urogenital diaphragm. It is a site of insertion of 1. Muscle the superficial and deep...

Anoderm Skin of the Anal Canal

In many cases the anoderm is well developed and should be preserved or reconstructed, for example by using Nixon's plasty or retraction at the neoanus at the end of the procedure after having sutured the fistula under tension to the perineal skin. This technique could also help to increase sensibility and to improve the rectosphincteric reflex. Fecal incontinence in patients having undergone PSARP repair for ARM improves at adolescence, as constipation disappears. Continence was ameliorated in...

Pathophysiology

It has been shown that the primary pathology in the causation of primary rectal ectasia is due to a deficiency in the smooth muscle causing weakening and dilatation of the rectal wall 17 . Secondary rectal ec-tasia develops due to the response to the obstructed rectum. The elasticity of the rectal wall permits the normal rectum to expand to approximately double the caliber, but it returns to its normal size. In the newborn, ectasia beyond this diameter is predictive of a primary developmental...

Rectal Problems

Patients can experience dehiscence, retraction, infection and or acquired atresia of the rectum related to technical problems arising during the pull-through procedure. These are usually the result of excessive tension or inadequate blood supply. In addition, anal strictures may result when families do not follow the prescribed protocol of dilatations. Reoperation for these patients proceeds posterior sagittally. In cases of retraction, dehiscence, and acquired atresia, the rectum is usually...

Management of Urinary Incontinence

Unlike fecal incontinence, urinary incontinence impacts on other organ systems. Incontinence caused by a neurogenic bladder may be associated with recurrent urinary tract infections and vesicoureteric reflux. This combination can result in ongoing damage to the kidneys, resulting in renal failure 27 . Consequently, the early aggressive management of these patients is important to prevent renal damage. The important factors are to ensure that the bladder is emptied regularly and that the...

Vaginal Reconstruction

Vaginal Reconstruction

The problem of the woman with an absent or inadequate vagina is unresolved. Much of the reported work has been on patients with intersex conditions, but the same principles apply to the vaginal anomalies associated with ARM. A variety of techniques for reconstruction are available. None has been shown to produce an ideal substitute for the natural organ and it seems unlikely that any would have the same sexual sensation as the natural vagina. In an extensive review of the literature, it was...

Assessment of the Sphincter Complex and Nerve Supply

Sacral Ratio Anorectal Malformations

There is a close relationship between development of the sacrum and the extent of formation of the levator ani and sphincter muscle complex. Normal bony development is correlated closely with normal neurological development, and absence of the bony segments very commonly predicts absence of the nerve roots. When the nerve roots and the bony segments are missing, the sphincter muscle and levator ani muscle is deficient. This is now recognized by ultrasound of the spinal cord, plain x-rays of the...

The MACE Procedure

Bowel management is necessary in the majority of ARM in the postoperative period. Fecal incontinence in some patients and intractable constipation in others are the main problems. Initially, conservative measures including aggressive potty training, dietary management, different medications, daily retrograde enemas, and biofeedback therapy in suitable patients are used to overcome these complications. Pe a has reported a detailed bowel management program for ARM patients 59 . Reoperations for...

Internal Anal Sphincter

Lambrecht and Lierse 35 demonstrated a normal internal anal sphincter surrounding the proximal part of the fistula in 33 neonatal piglets with anal atresia 30 . The position of the internal sphincter depended on the localization of the fistula orifice into the rectal pouch. This differed greatly. The form and thickness of the internal sphincter also varied to a large degree. Sometimes the muscle had the form of a tube, or an acute-angled funnel as in healthy piglets. However, mostly the...

Comparison of Scores and Outcomes

Studies comparing different scores in the same study population are scarce. Ong and Beasley 21 compared 4 scoring methods in 37 patients who had undergone sacroperineal rectoplasty. Continence was scored as good, fair, and poor using two numerical Kelly 15 , Templeton and Ditesheim 33 and two qualitative scores Kiesewetter and Chang 16 , Wingspread - Stephens and Smith 31 . The Wingspread score was adapted to three categories for comparison pur- Table 27.8 Method for assessment of outcome...

Qualityof Life Measurements

Quality of life is a multidimensional concept, which includes, but is not limited to, the social, physical, and psychological functioning of the individual. Validated instruments are supposed to objectively measure the domains of quality of life, and to exclude observer bias. The relevance of quality-of-life assessment in children with ARM was confirmed in an early study by Ditesheim and Templeton 4 , who used a questionnaire scoring system that included items such as school attendance, social...

Dietary Stimulants

In addition to the mechanical stimulation provided by roughage, a chemical stimulation may also improve bowel peristalsis. The laxative effect of lactic acid, for example, is well known. It has an impact on intestinal motility via the bacterial flora and shortens the transit period. Lactic acid is found in yogurt, buttermilk, soured milk, kefir, vegetables that have been pickled, such as sauerkraut and pickles, and vegetable juices such as sauerkraut juice or red beet juice. Other organic...

Introduction and Definition

Congenital pouch colon CPC is a common condition associated with anorectal agenesis, and is seen particularly in Asia. The condition is defined as an anomaly in which all or part of the colon is replaced by a pouch-like dilatation, which communicates distally with the urogenital tract via a large fistula. In this condition, a supralevator anorectal malformation ARM is associated with a colonic pouch of variable size 5-15 cm in diameter . The mesentery of this pouch is short and poorly...

Vertebral Anomalies and Myelodysplasias

In the literature there are essentially no reports concerning late problems related to vertebral anomalies in patients with ARM. In the author's consecutive series of 375 ARM during the period 1984-1994, 2 patients have required spinal bracing and 4 required operative spinal stabilization because of progressive scoliosis. A report from the same institution in adults with ARM noted that 18 16 out of 116 patients reported symptoms, mainly chronic back pain, related to their vertebral anomalies...

Functional Outcome Following Secondary Surgery for ARM

Secondary reconstructions to improve poor anorectal function have been used extensively in patients with ARM. In most long-term follow-up series extending to adulthood, a significant proportion of patients have undergone redo-surgery 32,83,84 . A clear mes- sage arises from these reported series the long-term outcome is not better in patients who have had secondary surgery 83 and may be worse than in those who had only one reconstruction 84 . It is possible, however, that the patients who have...

Types of Enema

Appendicostomy Malone

There are different types of solutions to use for enemas there are some ready-made solutions that can be bought in a pharmacy or drugstore, or solutions that can be prepared at home based on water and salt 0.9 saline can be made by adding 3-4 teaspoons to 1 liter of water . The use of phosphate enemas is most convenient since it is already in a prepared vial. However, saline enemas are often just as effective and some families find it easier and less expensive. Occasionally, children will...

Determination of the Laxative Requirement in a Disimpacted Patient

Once the patient has been disimpacted, an arbitrary amount of laxative is started, usually a senna derivative. The initial amount is based on the information that the parents give about the previous response to laxatives, and the subjective evaluation of the megasig-moid on the contrast enema. The empiric dose is given and the patient is observed for the next 24 h. If the patient does not have a bowel movement in the 24 hours after giving the laxative, it means the laxative dose was not enough,...

Clinical Presentation

The majority of the patients present in the early neonatal period within the first 7 days of life. Occasionally, if the fistula is large, especially in a female child with colocloacal fistula, the presentation may be late, as the child remains decompressed. Classically, all babies present with an absent anal opening. The male baby presents early with anorectal agenesis and gross abdominal distension with or without passage of gas or meconium per urethra. The association of bilious vomiting with...

Spinal Dysraphism

Axial, caudal dysgenesis is always present where cloa-calplate-related clinical malformations are present. What was not realized in the past is their incidence in minor anomalies 42,48 . The apparent central role of the notochord in the closure of the caudal neuropore, as part of the process of neurilation of the neural plate, has been emphasized. These defects will be discussed in terms of the sacrum, the vertebral canal, and the spinal cord 68,81 . This is clinically the most obvious, with a...

Conclusions and Results of the Krickenbeck Meeting 2005

A clear recommendation concerning specific instruments cannot be derived from clinical experience or from data in the literature. To date, the Kelly score 15 has been most widely used. The Holschneider score 8 is the only one that includes an objective parameter electromanometry and gives more detailed information regarding bowel habits. The score introduced by Rintala and Lindahl 25 underwent a validation process and data from a control group of children with normal bowel habits are available....

The Holschneider Score

Holschneider and Metzer 11 introduced a quantitative clinical score, including the parameters frequency of defecation, fecal consistency, soiling, rectal sensation, ability to hold back, discrimination, and need of therapy. Each of these seven parameters is scored as 0-2 according to the degree of impairment. In contrast to previous scores, items such as frequency of stools or warning period are clearly defined. A score of 10-14 points is continent, 5-9 points fair, and 0-4 points incontinent....

Photographic Album of Anorectal Malformations and the Sphincter Muscles

Rectovestibular Fistula

The specimens presented in the accompanying compact disc were collected and sectioned at the Royal Children's Hospital, Melbourne, Australia and the Children's Memorial Hospital, Chicago, USA. The colored sections were enlarged directly from the stained histologic sections, which were selected from serial sections of the pelvis of newborn babies who had died of multiple anomalies. The sections show the normal and abnormal anatomy of the viscera and the muscular components of the levator ani and...

F

Pubococcygeus Muscle

Fig. 23.1 The patient is positioned transversely on the operating table, a bladder catheter is placed, and the trocars are positioned in the illustrated sites umbilical - 5 mm, right upper and lower quadrant - 4 mm Keith E. Georgeson and Oliver J. Muensterer placement of the Maryland clamp. The loop ligature is then passed around the Maryland clamp and the fistula and snugged in place, adjacent to the urethra. A second loop can be placed on the rectal fistula proxi-mally in a similar fashion...

Normal Anourogenital Development

Anorectal Malformations Diagram

4.3.1 The Primitive Streak and Allantois The earliest evidence of craniocaudal orientation in the developing embryo occurs with the formation of the primitive streak at the caudal end of the dorsal aspect of the embryo adjacent to the connecting stalk. From the primitive streak the mesenchymal cells first develop and migrate between the layers of the bilaminar disc and extend throughout the embryo, except where the endoderm and ectoderm are fused at the cloacal and oropharyngeal membranes. The...

Vaginal Augmentation andor Replacement

Idel Vegina

The vagina can be augmented or totally replaced with bowel tissue when it is very small and is located very high, or in cases of absent vagina. The choices are rectum, colon, or small bowel. Vaginal replacement with rectum is only feasible in patients who have a megar-ectum that is large enough to be able to divide it longitudinally into a portion with its own blood supply that will represent a new vagina and to leave another half with enough circumference to reconstruct an adequate-sized...

Unusual Forms of Cloaca 1561 Urogenital Sinus

Rectovesical Fistula

A urogenital sinus with the bowel opening in the perineum or the vestibule is the least severe variety of cloaca and is extremely rare. It was first described by Hendren 29,30 . We have seen one case of each Fig. 15.11 . A urogenital sinus with the bowel ending blindly is also extremely rare. One case was reported by Snyder 68 , and we have seen two cases Fig. 15.12 . Fig. 15.10 Diagrammatic SS of rectovaginal fistula and anal canal stenosis Fig. 15.10 Diagrammatic SS of rectovaginal fistula...

The Kelly Score

In the Kelly method 15 , the criteria are somewhat similar to the Scott score, but continence is scored quantitatively Table 27.2 . The determination is based on leakage phenomena, on the strength of the puborectalis sphincter, and on sensitivity. Factors include the appearance of staining or smearing, accidental defecation or soiling, sensitivity, the strength of the puborectal is muscle action on digital examination, and feeling of defecation. A total of 5-6 points Table 27.1 Assessment...

Intrinsic Malformations of the Anorectum

Absent Ganglion Cells

Fetal experiments by Pickard et al. 23 revealed that an intestinal obstruction evolving in early fetal life might cause secondary alterations in the plexus of the intestinal wall. According to our own studies in 1994 and 1996, aganglionosis, hypoganglionosis, intestinal neuronal dysplasia IND , desmosis, and deficiency of interstitial cells of Cajal may occur 24-26 . We also observed a case with duplication of the plexus, and another where the internal anal sphincter consisted of longitudinal...

Laxatives

Many different laxatives exist and different groups have different effects. Laxatives should not be given indiscriminately, but only after consultation with a doctor and for short periods of time. They do speed up the passage of food through the bowel and result in defecation. If they are the only form of therapy Table 30.1 Desirable and undesirable food in the treatment of chronic constipation Table 30.1 Desirable and undesirable food in the treatment of chronic constipation All kinds of fruit...

Development of the Hindgut

4.2.1 The Anorectal Septum of the Hindgut In very young embryos, the hindgut is a simple structure. Cranially, it is in continuity with the midgut caudally, it is in direct contact with the ectoderm, thus forming the cloacal membrane. When development progresses, the caudal part of the hindgut, the cloaca, differentiates into two separate organ systems - the urogenital tract and the anorectal tract. As mentioned above, since the work of Tourneux 4 and Retterer 5 at the end of the nineteenth...

And Associated Problems

Revision Cecostomy Button

The most common complication in CCC construction is the stomal orifice at the anterior abdominal wall. The location of the stoma is related to the surgeon's choice as well as the type of conduit used. In our series, the fallopian tube and bladder stump were used as channels in two cases and were located as perineal stomas this has provided technical applicability 77 . Duckett has also reported the use of perineal stomas Fig. 34.5 A-H Reimplantation of Monti-MACE to the large bowel Fig. 34.5 A-H...

Hydronephrosis

The incidence of hydronephrosis varies greatly between the series reported in the literature. Hydrone- Table 17.2 Genitourinary anomalies according to severity of the ARM 28 Table 17.2 Genitourinary anomalies according to severity of the ARM 28 Table 17.1 Incidence of genitourinary anomalies related to Fig. 17.1 Intravenous urogram showing a horseshoe kidney Fig. 17.2 Intravenous urogram showing a right-crossed, fused, ectopic kidney Fig. 17.1 Intravenous urogram showing a horseshoe kidney Fig....

Abnormal Anourogenital Development

Anorectal Malformation Embrio

Thus far there is only one study of human embryos at an early stage of maldevelopment. Padmanabhan et al. 25 examined embryos of 7.5 and 8 postovula-tory weeks that had a blind-ending rectum, abnormal genital tubercle development, and sacral vertebral column defects. One also exhibited agenesis of the ureters. Our understanding of abnormal development of the anogenital region depends principally on observations made in other mammalian embryos combined with detailed histological examination of...

Classification

Anorectal Malformation Classification

ARM represent a wide spectrum of defects and conditions. A clear understanding of normal anorectal anatomy and the different types of ARM is necessary for both the planning of surgery and the procedure itself. An appreciation of the classification systems is useful in practice to the surgeon. This is, however, much easier said than done. The classification systems are notoriously difficult and unwieldy. There are multiple classifications in use in different centres throughout the world, making...

Results of Anorectal Manometry

Perineoplasty

Patients with a good clinical result after staged ab-dominoperineal rectoplasty or perineoplasty exhibited the same anorectal pressure profile as normal subjects, with a high-pressure zone in the anal canal Fig. 26.1 . They also had an adequate anorectal pressure difference that was not significantly different from that of normal subjects. On the other hand, patients with a poor clinical result showed a slight radial change in the anorectal pressure profile and did not have such a high-pressure...

Colostomy

Colon Atrophy

A divided descending colostomy is ideal for the management of anorectal malformations Fig. 19.5 . The completely diverting colostomy provides bowel decompression as well as protection for the final repair of the malformation. In addition, this type of colos-tomy facilitates the distal colostogram, which represents the most accurate diagnostic study for determining the anatomy of these defects 9 . A descending colostomy has advantages over a right or transverse colostomy 10, 11 . There is a...

Associations with an Increased Genetic Risk

The application of epidemiologic techniques to study genetic risk factors is growing rapidly due to major advances in our understanding of the human genome. This opens the door to the study of genetic risk factors and environmental factors as part of genetic epidemiology. ARM are generally accepted as being a largely genetically based disorder at a cellular level. From an epidemiological point of view, it could be argued that either the genetic influences pertain to only a few cases...

Associated Malformations

Cloaca Malformation With Double Uterus

Being a very complex deformity of a very early stage of human development, many associated anomalies can be observed in patients with cloacal malformations Table 10.2 . Abnormalities of the enteric nervous Table 10.2 Some of the associated anomalies found in children with cloacal anomalies Fig. 10.2 Urogenital sinus UGS variations modified according to Hendren 1992 J Pediatr Surg 27 890-901, Fig. 3 . a Long UGS ending in the tip of the clitoris. b Subclitoral meatus. c Wide opening of the UGS...

Rectal Prolapse

Rectal mucosal prolapse occurs following PSARP, with an incidence of 3 24 . It is more common in patients with higher malformations and with poor sacral and pelvic musculature. Significant prolapse may lead to ulceration, bleeding, and mucus production, and can interfere with anal canal sensation and thus impact upon a patient's functional prognosis. Correction of the prolapse can be performed transa-nally, with mobilization of the redundant full-thickness rectum, and redo-anoplasty. This is...

Stephens Secondary Repair of Damaged or Hypoplastic Muscle Complex [2

Urethral Reroute

Once the decision has been made to operate on a specific patient, a protective colostomy should be created. We always prefer a right transverse colostomy. The technique corresponds in principle to Pena's procedure for PSARP and redo operations 5 . The patient is placed in the prone position, as described previously. The electrical stimulator allows the surgeon to make a full evaluation of the available muscles in the perineum. Multiple 5-0 stitches are placed at the mucocutaneous junction of...

Nixon Anoplasty

Advancement Flap Anoplasty

We recommend the Nixon anoplasty as the most satisfactory repair 73,74 . The lateral flap proctoplasty 73 was originally added to the Kiesewetter-Rehbein pull-through. It can be added to any form of pull-through and can also be used as a secondary procedure to correct postoperative prolapse. This simplest form of anoplasty was fist described by Nixon in 1967 73 , but is not widely known. We and others use it regularly in both primary and secondary rectoplasties or in a few cases for revision...

Normal Anus and Anorectum with a Fistula

15.8.1 Fistula Between a Normal Anorectum and the Perineum A fistula between a normal anorectum and the perineum is super-rare. Brem et al. 8 has described Fig. 15.21 Diagrammatic SS of rectal atresia and proximal rectal stenosis Fig. 15.21 Diagrammatic SS of rectal atresia and proximal rectal stenosis Fig. 15.23 Diagrammatic SS of normal anorectum, normal urethra and rectourethral fistula Fig. 15.23 Diagrammatic SS of normal anorectum, normal urethra and rectourethral fistula one boy of Asian...

Micturating Cystourethrography

Cystourethrography

MCUG should be performed in all neonates with an ARM due to the high incidence of renal tract anomalies in these patients. This can be used to assess for the presence of associated vesicoureteric reflux. The antegrade urethrogram component of the study, together with a retrograde urethrogram performed whilst removing the catheter, may demonstrate the site of a rectourinary fistula. This is not as reliable at demonstrating a fistula as a pressure-augmented colos-togram, however 21 . The MCUG can...

Posterior Urethral Diverticulum

Posterior Urethral Diverticulum

This complication can occur when a retained portion of the rectum is left attached to the posterior urethra Fig. 24.2 . The same reoperative approach to fix it can be utilized, with a posterior sagittal incision, mobilization of the rectum to expose the posterior aspect of the urinary tract, identification of the diverticu-lum, and dissection of it down to the urethra. The di-verticulum can be separated from the urethra in the same manner as in a primary repair of ARM, with the urethra closed...

Surgical Treatment of Cloacas

High Cloaca

Prior to undertaking the repair of cloacal malformations, the surgeon should perform endoscopy to determine the length of the common channel. There are two well-characterized groups of patients with cloaca Fig. 22.1 Spectrum of cloacae. A Most common channel. B Long common channel 6 , with permission Fig. 22.1 Spectrum of cloacae. A Most common channel. B Long common channel 6 , with permission Fig. 22.2 Spectrum of cloacae. A High rectal implantation into the vagina. B Short common channel 6 ,...

Continence

The internal anal sphincter has two functions 1 it is persistently tonically contracted, and 2 it initiates the act of defecation by reflex dilation in response to rectal distention. This apparently contradictory behavior can be explained by the electric property of the smooth musculature of the sphincter. In the internal sphincter, a basic electric activity can be demonstrated similar to that found in the colon or rectum. Electromyographic investigations of the smooth intestinal musculature...

Tracheoesophageal Fistula Malformations

Babygram Tracheoesophageal Fistula

Timing is everything Nowhere is this old axiom truer than in the triage of babies born with ARM and an associated anomaly. Recognition of an associated anomaly thus becomes the first order in the planning of any approach to treating an ARM. The most immediately troublesome associated lesion is that of EA TEF. Because the child with EA is at risk of potentially fatal respiratory complications as a result of either spillover aspiration of saliva or milk or as a result of refluxed gastric content...

Rectoperineal Fistulas

Anteriorly Placed Rectum

Rectoperineal fistula is what traditionally was known as a low defect. The rectum is located within most of the sphincter mechanism. Only the lowest part of the rectum is anteriorly mislocated Fig. 20.2 . Sometimes the fistula does not open into the perineum, but rather follows a subepithelial midline tract, opening somewhere along the midline perineal raphe, scrotum, or even at the base of the penis. The diagnosis is established by perineal inspection. No further investigations are required....

The Rintala Score

Rintala and Lindahl 25 established a clinical score for the evaluation of fecal continence. The score is derived from standardized questionnaires and physical examination is not required Table 27.5 . The score consists of seven factors, which are scored from 0 to 3, except the factor of frequency of defecation, which is scored 1-2. The maximum bowel function score is 20. The authors used the score initially in 46 consecutive patients who had undergone surgical repair of high or intermediate...

Assessment for Associated Malformations

Ultrasound Normal Healthy Kidneys

Associated malformations are identified in approximately 50 of children with ARM see Chaps. 16-18 23, 25, 31 . Some of these defects may be life threatening or may have a greater impact than the ARM Fig. 9.13 Coronal reconstruction of a computed tomography examination of the pelvis demonstrating the pelvic floor musculature arrow and the rectal ampulla curved arrow sitting superior to the levator sling Fig. 9.13 Coronal reconstruction of a computed tomography examination of the pelvis...

Diagnostic Management

Cloacal Anomaly

Endoscopy includes a detailed investigation of the length of the UGS and the situation of the vagina s , rectal fistula, the bladder neck, and urethral orifices. In addition, a distal loopogram is essential later, before definitive surgery. Without endoscopic aid it is usually not possible to catheterize the bladder because the fusion of the proximal urethra with the UGS is almost always sharply angulated in the direction of the pubic bone. In this situation a Tieman catheter may be helpful....

The Anal Canal

Anal Penetration Diagram

The anal canal can be defined embryologically as that part of the proctodeum lying between the anal valves or pectinate line and the anal orifice 5 . It is surrounded by the anal sphincter complex 6 , which is composed of the internal sphincter, longitudinal muscle layer, and external sphincter. The surgeon's definition is based on the functional anal canal as determined by digital examination of the subject in the conscious state, extending from the anorectal ring or cranial margin of the...

Technical Details

Vesicostomie

In the majority of cases a Mitrofanoff channel is constructed through a midline infraumbilical incision. If the patient will only have a continent vesicostomy constructed, the right laterovesical space is deeply freed before opening the peritoneum. The cecum and appendix are explored and the pedicle vessels of the appendix are carefully mobilized. The appendix is excised from the cecum with a cecal wall cuff. The aim in leaving the cecal cuff on the appendix is to enable a wide anastomosis on...

High Insertion of the Vagina

Images Vaginoplasty And Clitoroplasty

Patients who are severely masculinized with a high insertion of the vagina, which is very rare, may require a complex clitorovaginoplasty. Historically, Hendren described a perineal pull-through vaginoplasty, as shown in Fig. 35.3 6-8 . This involves separation of the vagina from the urogenital sinus and creation of two U-shaped flaps on the perineum above and below the area of the intended vaginal opening. The perineal flaps are required due to the inadequate length of the vagina, which enters...

Male Sexual Function

There are few data on male sexual function. It would seem that no unit has been able to follow up its own patients into mature adult life. It is recorded that no adult patients have normal faecal continence, which is certainly a bad start for any individual wishing to share his life and bed with another 34 . Nonetheless, in this study there was no difference in arrangements for family life between patients and the normal population in The Netherlands, and the same proportions were cohabiting....

Free Autogenous Muscle Transplant for Strengthening of the Levator Ani Palmaris Longus Transplant

Gracilis Muscle Transplant

Hakelius 13 and Hakelius et al. 14-16 originally described the procedure in which a graft of muscle usually the palmaris longus, less commonly the sartorius, or extensor digitorum brevis is first de-nervated 2 weeks before transplantation and is then transplanted as a U-shaped sling around the rectum, in close contact with the puborectalis, and anchored to the pubic bone Figs. 31.6 and 31.7 . Denervation allows muscle survival as it initiates a lower level of energy consumption. The graft...

Conclusions

Current knowledge of the clinical genetics, cytogenet-ics and molecular genetics of ARM is still progressing. The genetic basis of these anomalies is very complex Table 2.5 Human and mouse genotypic phenotypic correlations. GCPS Greig cephalopolysyndactyly syndrome, PHS Pallister-Hall syndrome Table 2.5 Human and mouse genotypic phenotypic correlations. GCPS Greig cephalopolysyndactyly syndrome, PHS Pallister-Hall syndrome Currarino syndrome Heterozygous mutation Hlxb9 Heterozygous mice normal...

Rectovaginal Fistula

Penoscrotal Hypospadias

Rectovaginal fistula was thought to be a sufficiently common anomaly in 1985 to have retained a place in Wingspread 72 however it is now considered rare. Pena's group has only six cases 58 they found that many vestibular and cloacal fistulas had been erroneously labeled as vaginal fistulas. However, Wakhlu's group 2005, personal communication has experienced 8 cases and we have 22. In three of Wakhlu's cases and in three of ours, the rectum opened high up in the posterior fornix these were high...

Rectobladderneck Fistula

Rectal Bladder Neck Fistula

In this defect, which affects 10 of males, the rectum opens at the bladder neck Fig. 20.9 . The patient has a poor prognosis because the levator ani muscle, muscle complex, and external sphincter are frequently poorly developed. Consistent with the caudal regression, the sacrum and entire pelvis is often deformed and underdeveloped. The perineum is often flat, with evidence of poor muscle development. For this repair, a total body preparation is performed the sterile field includes the entire...

Investigations

Invertogram

An plain erect x-ray of the abdomen in anteroposte-rior and lateral views in addition to an invertogram forms the mainstay of diagnosis. A large loop of bowel with single air fluid level occupying more than half of the total width of abdomen and displacing the small bowel to one side usually right is the classical picture Fig. 11.8 . The pouch is proximal to the pubococcygeal line in the invertogram. The majority of the patients can be diagnosed by an erect x-ray in addition to the conventional...

Introductionanorectal Malformation

Cloacal Exstrophy

Vesicointestinal fissure, or cloacal exstrophy, is a severe congenital abnormality of the infraumbilical body wall, which exhibits the following features an exomphalos and an exstrophied cecum flanked by two hemibladders. The hemibladders contain the ureteric orifices Fig. 14.1 . The cecal plate has a proximal opening leading to the ileum, which often prolapses leading to an elephant-trunk deformity, two appendiceal openings, and a distal opening leading to a blind bowel segment hind- or...

Female Prediction from Clinical Appearance

Spaces The Anal Vagina Canals

Even more than the male, the internal anatomy of the female can nearly always be predicted from a careful study of the visible orifices in the perineum. Non-communicating anomalies are rare in the female, so that some clinical evidence for a fistulous communication can nearly always be determined by physical examination for the emission of meconium or gas. A photograph of the perineal anatomy is useful for the record as a basis for future comparison. There may be some fusion of the labial...

Male Genital Anomalies

Adult Sexual Breast Vagina

The incidence of male genital anomalies is lower than for female genital anomalies. However, an exact level is difficult to define because of limited and contradictory literature. Hoekstra et al. recorded all of the genitourinary anomalies associated with ARM in 150 children 30 . The genital anomalies in boys were relatively uncommon and mainly of little significance, especially when considering sexual function in later life Table 36.3 . In a later series, the incidence of genital anomalies was...

Anocutaneous Fistula M

Anorectal Malformation

Fig. 6.44 Anocutaneous fistula, male 7M.1 Fig. 6.44 Anocutaneous fistula, male 7M.1 BUCKET HANDLE ANOGUTANEOUS FISTULA M RLE BUCKET HRN LE RM COTRNE OS F STULft M RLE Fig. 6.52 Imperforate anal membrane, male 10M.1 Fig. 6.52 Imperforate anal membrane, male 10M.1 Fig. 6.53 Imperforate anal membrane, male 10M.2 Fig. 6.53 Imperforate anal membrane, male 10M.2

Of the Normal Rectum and Sphincters

Nervi Erigentes

The second, third, and fourth sacral segments of the spinal cord are the nerve centers of the arcs that subserve the receptors and effectors of the rectum, anus, bladder, and urethra, and, together with higher centers in the brain, are responsible for continence. These centers in the spinal cord also subserve cutaneous sensation in the anal canal to the level of the valves and in the perianal region. The sympathetic supply, however, arises in the second, third, and fourth lumbar segments....

Surgical Treatment

Rectosigmoid Cancer Research

The use of surgery depends on the primary pathology and is considered only if the medical management fails. The main principle of surgery is to excise or plicate the redundant bowel to prevent postoperative incontinence or constipation. Resection or tailoring of the ectatic segment should be an integral part of the primary reconstructive procedure if rectal ecta-sia is recognized perioperatively in association with anomalies like ARM or anal stenosis. In selected cases with a prominent...

Postoperative Management and Colostomy Closure

In male patients with rectourethral fistulas, the Foley catheter remains in for 7 days. If the catheter comes out accidentally before that, patients usually void without any problem and do not require catheter replacement. Intravenous antibiotics are administered for 48 h. Antibiotic ointment is applied to the perineum for 7 days. Most patients usually go home after 2 days, or after 3-4 days if the abdomen was entered. Two weeks after the repair anal dilatations are started. A dilator that fits...