Cardiac Malformations
Because the association between ARM and cardiac malformations exceeds that of any other correctable associated malformation, it is necessary to obtain a cardiology consultation and an echocardio-gram as part of the initial evaluation Fig. 16.3 . The most common associated cardiac malformation is a ventricular septal defect VSD . Some are associated with tetralogy of Fallot TOF and others are isolated defects. It is unusual for a VSD of any type to be associated with cyanosis or cardiac failure...
References Efh
1. Kiesewetter WB, Hoon A 1979 Imperforate anus an analysis of mortalities during a 25-year period. Prog Pedi-atr Surg 13 211-220 2. Rintala R, Lindahl H, Louhimo I 1991 Anorectal malformations - results of treatment and long term follow-up of 208 patients. Pediatr Surg Int 6 36-41 3. Hecker WC, Holschneider AM, Kraeft H, et al 1980 Complications, lethality and long-term results after surgery of anorectal atresia. Z Kinderchir 29 238-244 4. Stephens FD, Smith ED 1971 Anorectal Malformations in...
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...
Subject Index
methods 462 Aganglionosis 19 Aganglionosis in ARM 336-337 Agenesis in normal development 51-52 Ambiguous genitalia 442-444 Amielle dilators 452 Amussat - first proctoplasty 4 vesicointestinal fissure 240 Anal canal in normal development 53-54 --length of 68 sphincter anatomy 144-146 Anal cushions 69 clinical features of 234-235 associated anomalies in 236-237 Anal endosonography 347-349 Anal Mucosa nerve supply of 69 Anal sphincters normal rectum and anus 143-160 of anus and rectum 65-85...
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...
Materials and Methods
This investigation was approved by an independent ethics committee at the Charit - University Medicine in Berlin. The study was conducted between the autumn of 2004 and spring 2005. It was a postal survey addressed to member parents involving a standardised questionnaire total 23 pages . Parents were included if their children were between 3 and 17 years of age. The intention was to collect epidemiological data regarding type of ARM, type of post-surgical therapy, degree of contentment,...
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....
K LU CLftCRL F STULft CftRSEMT VftGINffi
Fig. 6.10 Rectovestibular or low cloacal fistula absent vagina 4F.2 Fig. 6.11 Rectovestibular or low rectocloacal fistula absent vagina 4F.3 Fig. 6.11 Rectovestibular or low rectocloacal fistula absent vagina 4F.3 Fig. 6.12 Cloacal anomaly absent vagina, same as Fig. 6.11 4F.4 Fig. 6.12 Cloacal anomaly absent vagina, same as Fig. 6.11 4F.4 Fig. 6.13 Cloaca with short conduit atrophic microcaliber vagina 5F.1 Fig. 6.13 Cloaca with short conduit atrophic microcaliber vagina 5F.1 Fig. 6.14 Cloaca...
Two Hemivaginas Attached to the Bladder Neck
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...
Investigations Wce
Anorectal ectasia may be established by digital examination or barium enema studies, but it is unlikely that a distinction can be made between primary and secondary rectal ectasia unless there is a history of previous surgery, clinically evident anal stenosis, or a stricture. Contrast studies may delineate the dilated rectum with or without a posterior rectal shelf Fig. 12.3 . Manometry will show normal rectoanal inhibitory reflex, unlike patients with Hirschsprung's disease. Persisting ectasia...
Anal Membrane Stenosis
As in imperforate anal membrane, but membrane partially perforate. A complicated anomaly of exstrophy of the ileo-caecal region, short terminal blind bowel, exstrophy of paired bladders, and other associated anomalies. DUPLICATIONS OF ANUS, RECTUM a GENITOURINARY TRACTS About 40 recorded cases in various combinations of blind and fistulous openings. COMBINATIONS AND VARIANTS OF THE USUAL DEFORMITIES e.g. rectovesical plus rectourethral fistu- rectourethral fistula plus normal colourethral plus...
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
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
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...
Clinical Features
The diagnosis of anorectal malformations ARM , with the exception of anal stenosis, should be made shortly after birth during the routine neonatal examination. The vast majority of lesions will be detected even after the most cursory examination of the perineum. However, rectal atresia in isolation may not be detected until later. In regions of the world where early neonatal review is not practiced, such as sub-Saharan Africa, ARM presents commonly with gross abdominal distension, bowel...
ARM Associated with Other Systemic Malformations
There is a wide spectrum of possible associations of ARM with various systemic malformations Table 2.2 . These associations may be well-described syndromes with various aetiologies or may be just a random association with other malformations. In a recent review, Ratan et al. 94 studied 416 patients affected with ARM of whom 58 had additional malformations 68 were male and 32 were female. High-type ARM was found in 58 , but occurred five times more frequently in males than in females, while...
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...
QualityofLife 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...
Postoperative Care
The patients with cloacas usually keep the Foley catheter for 10-14 days. In our series, about 20 of patients with a cloaca with common channel shorter than 3 cm require intermittent catheterization to empty the bladder. Patients with common channels longer than 3 cm require intermittent catheterization 70-80 of the time. Therefore, we leave the Foley catheter in place as long as the patient shows signs of swelling in the genitalia and until the urethral meatus is not readily visible. Once we...
The Standard Approach
Lethal uncorrectable cardiopulmonary anomalies have to be excluded and an open meningomyelocele urgently repaired before embarking on the correction of the cloacal exstrophy. The standard approach that would be appropriate in the majority of cases proceeds with the following steps 1. Omphalocele exomphalos closure can generally be performed primarily, although a few have required staged closure with a prosthetic pouch or mercurochrome painting of the sac 25 . 2. Separation of the ileocecal...
Types of Enema
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...
Prenatal Diagnosis
Prenatal ultrasonography has a low sensitivity and specificity for the detection of ARM. A normal anus is visualized as a circular rim of hypoechogenicity in the perineum together with a central linear echogenic stripe. The absence of this circular rim is described as imperforate anus on the prenatal scan. Enterolithia-sis has been described on prenatal scans of rectovesi-cal or rectourethral fistula in patients with ARM 2 . Harris retrospectively viewed prenatal scans of children with ARM and...
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...
References 1
1. Ameh EA, Chirdan LB 2000 Neonatal intestinal obstruction in Zaria, Nigeria. East Afr Med J 77 510-513 2. Anderson S, Savader B, Barnes J, Savader S 1988 Entero-lithiasis with imperforate anus. Report of two cases with sonographic demonstration and occurrence in a female. Pediatr Radiol 18 130-133 3. Archibong AE, Idika IM 2004 Results of treatment in children with anorectal malformations in Calabar, Nigeria. S Afr J Surg 42 88-90 4. Aslam A, Grier DJ, Duncan AW, Spicer RD 1998 The role of...
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....
Cloacagram
In a female child with a clinical cloacal malformation, water-soluble contrast medium can be instilled into the cloaca to determine the anatomy and length of the common channel Fig. 9.11 . Multiple catheters may be required to outline the genital and urinary components with contrast medium. Alternatively, a balloon catheter can be used, with the balloon inflated outside the patient and applied to the cloacal opening to occlude it. If contrast does not reflux into the co-lonic component and a...
The Wingspread Score
In the Wingspread score 31,32 , the grades of continence are scored qualitatively. They fall into the four main categories of clean, staining, intermittent fecal soiling, and constant fecal soiling Table 27.4 . Subcategories include the need of occasional or constant therapy. In an additional category, related complications concerning the anorectum, urinary, genital, or other functions are noted. The grades are scored qualitatively and the instrument has been widely used in recent years...
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
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
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
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
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
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...
References Oag
1. Lapides J, Diokno AC, Silber SJ, Lowe BS 1972 Clean intermittent self catheterisation in the treatment of urinary tract disease. J Urol 107 458-461 2. Mitrofanoff P 1980 Cystostomie continente trans-ap-pendiculaire dans le traitement des vessies neurologiques. Chir Pediatr 21 297-305 3. Shandling B, Gilmour RF 1987 The enema continence catheter in spina bifida successful bowel management. J Pediatr Surg 22 271-273 4. Malone PS, Ransley PG, Kiely EM 1990 Preliminary report the antegrade...