Treatment of Perianal Abscess and Fistula in Infants and Young Children: From Basic Etiology to Clinical Features.

Perianal abscess and anal fistula are 2 common anorectal diseases in infants and young children. However, their causes, clinical diagnosis, and treatment remain controversial. Compared to adults, infants with these 2 diseases exhibit unique clinical characteristics. Blind pursuit of conservative treatment or surgery may worsen the condition, resulting in increased pain in young patients and greater economic burden and psychological harm to parents. Therefore, it is crucial to select correct and effective treatments. This review summarizes the relevant literature from the past 10 years and systematically explains the pathogenesis, clinical characteristics, and treatment measures of perianal abscess and anal fistula in infants with the goal of providing clinicians a deeper understanding of perianal abscess and anal fistula in infants and summarizing safe and effective treatment methods.

Unusual location of median raphe cyst presenting as perianal polyp: a case report.

Median raphe cysts (MRC) are uncommon, benign congenital lesions that may present anywhere in the midline between the urinary meatus and the anus, with the shaft of the penis and the glans penis being the most common sites. We report a 52-year-old man with median raphe cyst unusually located in perianal region and treated by surgical excision.

The diagnostic value of MRI fistulogram and MRI distal colostogram in patients with anorectal malformations.

Contrast fistulogram (FG) and distal pressure colostogram (DPCG) are standard diagnostic methods for the assessment of anorectal malformations. Pelvic magnetic resonance imaging (MRI) earned a place among essential diagnostic methods in preoperative investigations after the Currarino syndrome and a high incidence of associated spinal dysraphism were described. The aim of our study was to evaluate the possibility of substituting FG and DPCG by a modified pelvic MRI, e.g. MRI fistulogram (MRI-FG) and MRI colostogram (MRI-DPCG). The prospective study involved 29 patients with anorectal malformations who underwent a modified pelvic MRI. The length and course of fistulas and rectum, and the presence of sacral anomalies were studied on MRI images and compared with images obtained by radiologic examinations. Modified MRI brought identical results as contrast studies in 25 patients when related to the fistula and rectum length and course. MRI was more accurate for the detection of sacral anomalies. MRI-FG was the only imaging method used in the four most recent patients. The results support the assumption that conventional contrast examinations for the assessment of anorectal malformations can be replaced by MRI, thus reducing the radiation dose.

Long-term disease-specific quality of life in adult anorectal malformation patients.

BACKGROUND: Fecal and urinary incontinence may differently influence various aspects of quality of life (QOL). The main aim of the present study is to determine whether fecal and urinary incontinence measured at time 1 of the study will predict QOL at time 2 (after 4 years), above and beyond the prediction already explained by fecal and urinary incontinence at time 2. METHODS: Thirty-six adult patients from the Italian Parents' and Patients' Association for Anorectal Malformations answered items about urinary and fecal incontinence at time 1 of the study and completed the Hirschsprung Disease/Anorectal Malformation Quality of Life questionnaire after 4 years from the first questionnaire. Two sets of hierarchical regression analyses were conducted with fecal and urinary incontinence serving as predictors of QOL and the different areas of QOL from the Hirschsprung Disease/Anorectal Malformation Quality of Life serving as outcome variables. RESULTS: The principal findings indicated that fecal continence is a strong predictor of QOL in the areas of social functioning, emotional functioning, and body image and that urinary incontinence predicted sexual functioning. CONCLUSIONS: It seems that one's past experience with fecal incontinence is extremely relevant to current QOL, especially for body image. Urinary incontinence contributed less in explaining QOL in our patients, but because it is very relevant for sexual functioning, it should not be disregarded.

Embryonic development of the internal anal sphincter in rats with anorectal malformations.

BACKGROUND/PURPOSE: The embryogenesis of the internal anal sphincter (IAS) in anorectal malformations (ARMs) remains unclear. This study aimed to investigate the development of the smooth muscle in the terminus of the digestive tract in normal and abnormal rats. METHODS: Rat embryos with ARMs were generated by administration of ethylenethiourea to pregnant rats. The normal rat embryos and embryos with ARMs from E13.5 to E21 were serially sectioned in the sagittal plane and stained immunohistochemically using specific antibody to α-smooth muscle actin (SMA). Temporospatial study was carried out on circular muscle of the distal portion of the hindgut. RESULTS: α-Smooth muscle actin immunolabeling cells could not be observed in the hindgut on E13.5, E14, and E14.5. On E15, there were α-SMA immunolabeling circular muscle cells in the hindgut; and the distal portion of the circular muscle was not thickened in the normal and ARMs rats. From E16 onward, the smooth muscle with slight dilated terminus, which was characterized by the features of IAS, could be noted in the primitive anorectum. In the normal group, the circular muscle in the distal portion of the hindgut thickened slightly and became the musculature with shutter-like bundles. In the ARMs group, the α-SMA immunolabeling myogenic precursors of the smooth muscle could be observed in the primitive anorectum as well. The musculature was similar to that in the normal group. On E15 and E16, there was no significant difference in the development of the circular muscle in the 2 groups. Moreover, the terminus of the circular muscle in the hindgut did not reach the orificium fistulae in ARMs rats. From E17 onward, in ARMs rats, the funnel-shaped distal hindgut communicated the genitourinary tract with a narrow fistula; the dilated musculature at this portion thinned gradually and formed an acute angled extremity in the ARMs group rather than formed blunt extremity in the normal group; the terminus circular muscle in the dorsal hindgut reached the orificium fistulae. During the following gestational days, the circular muscle of the hindgut in both normal and ARMs rats continued its own tendency. CONCLUSION: The IAS primordium started to appear at the terminus of the hindgut on E15 in the 2 groups. The IAS in the ARMs group failed to develop as well as that in the normal group. The IAS dysplasia occurred in the late embryonic development (E17-E21).

Valoración morfológica mediante resonancia magnética de la incontinencia fecal en pacientes con atresia anal corregida / Morphologic evaluation of fecal incontinence by magnetic resonance imaging in patients with corrected anal atresia

Objetivo: Describir los hallazgos obtenidos mediante resonancia magnética (RM) en pacientes con incontinencia fecal previamente intervenidos de anorrectoplastia sagital posterior (ARPSP) por atresia de ano y definir su utilidad en la valoración de su causa. Material y métodos: Se examinaron con RM 0,5T a 12 pacientes, 9 varones y 3 mujeres, a los que previamente se les realizó ARPSP por atresia de ano. El estudio incluía secuencias potenciadas en T1, T2 y DP con planos axiales, sagitales y coronales. Se valoraba el posicionamiento del neorrecto descendido entre los músculos elevadores del ano y complejo esfinteriano y el grado desarrollo de la musculatura pelviana. Resultados: Seis pacientes presentaban un desarrollo adecuado de los músculos elevadores del ano y complejo esfinteriano, con correcto posicionamiento del neorrecto en 5 de ellos y situación excéntrica en 1. En los otros 6 casos se observaron diversos grados de subdesarrollo del complejo muscular estriado, 4 de ellos en grado moderado y en 2, grave. En el último grupo se observaron anomalías congénitas, disráficas espinales y del sistema urogenital. Los planos sagital y coronal potenciados en T1 fueron los más útiles para evaluar la interrelación entre músculos elevadores del ano y complejo esfinteriano, mientras que los planos axiales fueron útiles en la valoración del grado de desarrollo del complejo muscular estriado. Conclusiones: La RM es útil en la evaluación de pacientes con incontinencia fecal tras ARPSP por malformación anorrectal. Una inadecuada posición del neorrecto o hipoplasia del complejo muscular estriado son causas de incontinencia postoperatoria en estos pacientes (AU)

Purpose: To describe the findings obtained with magnetic resonance imaging (MRI) in patients with ano-rectal atresia, after treatment by posterior sagittal anorectoplasty (PSARP), who have fecal incontinence and to describe its usefulness in the evaluation of causes of incontinence. Subject and methods: Twelve patients, 9 men and 3 women, with anorectal atresia were examined with 0.5T MRI after performing PSARP for imperforate anus. The study included T1-weighted, T2-weighted and proton-density, axial, sagittal and coronal planes. The location of descended neorectus and the degree of development of pelvic musculature were evaluated. Results: Normal development of anus levator muscles and sphincterian complex were observed in six patients, with correct situation of neorectus between anus levator muscles and sphincterian complex in five of them and eccentric in the other one. Diverse grades of striate muscular complex underdevelopment were showed in the other six cases, moderate grade in four of them and severe hypoplasia in the other two. Spinal and urogenital congenital anomalies were found in these patients. Sagittal and coronal T1-weighted MR images were the most useful planes in evaluating the relationship between anus levator muscles and sphincterian complex and axial T1-weighted MR images in the evaluation of the level of development of striated muscle complex in the evaluation of patients. Conclusions: MRI is useful in the evaluation of patients with fecal incontinence after performing PSARP for anorectal atresia. Unsuitable neorectus position or striated musce complex hypoplasia are causes of postoperative incontinence in these patients (AU)

Bowel function after surgery for anorectal malformations in patients with tethered spinal cord.

Tethered spinal cord (TC) is an anomaly frequently recognized in association with anorectal malformations (ARM). However, the influence of TC on bowel function in children with ARM remains unknown. Furthermore, there are few studies that have assessed anorectal function in children with ARM and TC. The aim of this study was to evaluate anorectal function in ARM patients with TC using clinical assessment and anorectal manometry. Among 258 patients with ARM, this retrospective investigation included 35 patients who underwent spinal magnetic resonance imaging (MRI) after surgery for ARM. The patients were divided into two groups based on the presence or absence of TC, and bowel function was assessed by Kelly's clinical score and anorectal manometry. Tethered cord was found in nine of the 35 patients (26%) with ARM. Of the ARM patients, TC was noted in four of 11 (36%) with high type anomalies, one of 8 (13%) with intermediate type anomalies, two of 14 (14%) with low type anomalies, and two of two patients (100%) with cloacal anomalies. Kelly's clinical score did not significantly differ between the two groups. However, two of the nine patients with TC had poor bowel function (Kelly's score; 2-0 points). On the contrary, patients without TC did not have poor bowel function. Anorectal manometry did not show a significant difference between patients with and without TC. However, the two patients with TC who had poor bowel function by Kelly's score had low anal resting pressure, which was essential for achieving fecal continence. In conclusion, the present study showed that tethered cord was more frequently found in patients with more severe anorectal anomalies. Patients with TC were more likely to have poor bowel function, but this did not reach statistical significance.

Congenital funnel anus in children: associated anomalies, surgical management and outcome.

Funnel anus (FA) is a rare and distinct type of anorectal malformation characterized by a skin-lined deep anal funnel, missing transitional epithelium and stenosis secondary to fibrotic internal sphincter. We aimed to characterize associated anomalies, surgical management and outcome of children with FA. The hospital records of 11 consecutive children (7 boys) treated for FA between 1992 and 2006 were screened. The collected data included the type of anorectal malformation, surgical management, associated anomalies, results of diagnostic investigations and outcome. Only one patient was free of any associated malformation. Six patients had a complete Currarino syndrome. Seven patients had a hemisacrum (scimitar) and tethered cord was present in two cases. Six patients underwent excision of a benign presacral teratoma. Anal stenosis associated with FA was managed by serial dilatations. Subsequent resection of the megarectosigmoid secondary to refractory constipation was performed on five occasions. Three patients underwent coloanal pull-through for Hirschsprung's disease (HD). The level of aganglionosis was at the rectosigmoid junction in two cases and low in the rectum in one. One additional patient had hypoganglionosis. Of the three patients with HD two also had Down's syndrome. After median follow-up of 6.5 (0.3-13.5) years four patients have normal bowel function and four suffer from soiling. Two patients with HD and Down's syndrome and one patient with an undefined syndrome are fecally incontinent. Associated anomalies are common and diverse in children with FA. Pelvic MRI, sacral radiography, evaluation of the urinary tract and rectal biopsies are recommended as routine investigations in cases of FA. Surgical care of these patients is demanding and should be confined to dedicated centers.

Prevalence estimation of anorectal malformations using German diagnosis related groups system.

Without major registries, true prevalence of rare congenital diseases is not known. Estimations for occurrence of anorectal malformation (ARM) are based on monitoring centers and epidemiological studies. The new German economical system for payment of inpatient care (G-DRG) obligates the report of each hospitalization, including diagnoses and procedures. These codes and classifications originally developed for morbidity statistics are now misused for economical purposes. Is there an epidemiological use? We present a new method to estimate national wide prevalence rate of congenital malformations exemplarily for imperforated anus. Due to the new German DRG-system, treatment data collections of the years 2002-2005 are freely accessible. This method is applicable if a life saving surgery is mandatory for newborns and has to be ciphered by specific codes. Overall, in German hospitals 1,012 children below 1 year of age are surgically treated with a reconstructive anorectal surgery during the period of 4 years. In the same time 2,817,388 babies are born in Germany. Hence the national wide prevalence rate is about 3.6 (95% CI: 3.4-3.8) per 10,000 or 1:2,784 for all different types of anal atresia requiring surgery. Main ICD-10 diagnosis Q42 was given twice this rate, probably due to at least two hospitalizations in the newborn period. The economic data of the G-DRG system can be used to estimate yearly prevalence of some rare congenital diseases in Germany, in case of specific surgical procedures. It may be a useful supplement to smaller regional registries because of larger size. Further calculations for other epidemiological questions have to be faced.

Sphincter saving anorectoplasty (SSARP) for the reconstruction of Anorectal malformations.

BACKGROUND: This report describes a new technique of sphincter saving anorectoplasty (SSARP) for the repair of anorectal malformations (ARM). METHODS: Twenty six males with high ARM were treated with SSARP. Preoperative localization of the center of the muscle complex is facilitated using real time sonography and computed tomography. A soft guide wire is inserted under image control which serves as the route for final pull through of bowel. The operative technique consists of a subcoccygeal approach to dissect the blind rectal pouch. The separation of the rectum from the fistulous communication followed by pull through of the bowel is performed through the same incision. The skin or the levators in the midline posteriorly are not divided. Postoperative anorectal function as assessed by clinical Wingspread scoring was judged as excellent, good, fair and poor. Older patients were examined for sensations of touch, pain, heat and cold in the circumanal skin and the perineum. Electromyography (EMG) was done to assess preoperative and postoperative integrity of external anal sphincter (EAS). RESULTS: The patients were separated in 2 groups. The first group, Group I (n = 10), were newborns in whom SSARP was performed as a primary procedure. The second group, Group II (n = 16), were children who underwent an initial colostomy followed by delayed SSARP. There were no operative complications. The follow up ranged from 4 months to 18 months. Group I patients have symmetric anal contraction to stimulation and strong squeeze on digital rectal examination with an average number of bowel movements per day was 3-5. In group II the rate of excellent and good scores was 81% (13/16). All patients have an appropriate size anus and regular bowel actions. There has been no rectal prolapse, or anal stricture. EAS activity and perineal proprioception were preserved postoperatively. Follow up computed tomogram showed central placement the pull through bowel in between the muscle complex. CONCLUSION: The technique of SSARP allows safe and anatomical reconstruction in a significant proportion of patients with ARM's without the need to divide the levator plate and muscle complex. It preserves all the components contributing to superior faecal continence, and avoids the potential complications associated with the open posterior sagittal approach.

Anorectal hamartoma in a neonate: a unique anorectal mass.

Neonates presenting with perineal masses are uncommon. When encountered, most perineal masses are anorectal malformations, sacrococcygeal teratomas, rectal prolapse, or duplication cysts. We present an otherwise healthy newborn with a patent anal canal and a pedunculated anal mass. The mass was initially believed to be a prolapsed rectal duplication cyst. Further evaluation for concomitant congenital abnormalities was negative. The patient underwent mass excision at the bedside under local anesthesia. Histopathologic evaluation revealed benign hamartoma. This case is presented because of its rarity, unique presentation, and simplicity of management.

Associated malformations in patients with anorectal anomalies.

Patients with congenital anorectal malformations (ARM) often have other associated congenital defects. The reported incidence and the types of associated malformations vary between different studies. The purpose of this investigation was to assess the prevalences at birth of associated malformations in patients of a geographically defined population with ARM which were collected between 1979 and 2003 in 334, 262 consecutive births. Of the 174 patients with ARM during the study period, 49.4% had associated malformations. Patients with associated malformations were further classified into groups with nonsyndromic multiple congenital anomalies; chromosomal abnormalities; nonchromosomal syndromes including Townes-Brocks, Walker-Warburg, Ivemark, Fetal alcohol, Klippel-Feil, Pallister-Hall, Facio-auriculo-vertebral spectrum, deletion 22q11.2; sequences, including OEIS, Pierre Robin and sirenomelia; and associations including VATER and MURCS. Malformations of the urogenital system (81.1%) and of the skeletal system (45.5%) were the most common other congenital anomalies occurring with ARM in multiply malformed patients without recognized entities, followed by malformations of the cardiovascular system, the digestive system, and the central nervous system. Weight, length, and head circumference of children with ARM and multiple associated malformations were lower than in controls, as was the weight of the placenta. Prenatal detection by fetal ultrasonographic examination was rarely made in isolated ARM. However, even in multiple associated malformations, prenatal detection by fetal ultrasonographic examination had a low sensitivity, 36%. In conclusion the overall prevalence of malformations, which was close to 1 in two infants, emphasizes the need for a thorough investigation of patients with ARM. A routine screening for other malformations may be considered in patients with ARM, and genetic counseling seems warranted in most of these complicated cases.

[Perianal abscess and anal fistula in infancy and childhood. A congenital etiology?]. / Perianale Fisteln und Abszesse im Säuglings- und Kleinkindesalter. Eine kongenitale Atiologie?

BACKGROUND: Perianal abscess and anal fistula in childhood are commonly treated in the same way as abscess and fistula in adults. We questioned whether they represent a cryptoglandular infection, as in adults, or two different diseases with the same symptoms. MATERIALS AND METHODS: We retrospectively analyzed all medical records of 80 children (seven male, 73 female) who underwent surgical treatment for primary perianal abscess or primary anal fistula during a 10-year period. The records were analyzed concerning age at appearance of lesion, sex, diagnosis (fistula and/or abscess), and anatomic localization of the lesion. RESULTS: Of all the children, 67.5% were treated during their 1st year of life and another 10% during their 2nd year (group 1: 77.5%, n=62). Only 22.5% were 3 or older (group 2, n=18). Group 1 contained significantly more male infants (m:f 30:1). However, much more balanced sex distribution was detected in group 2 (m:f 2.6:1), similarly to adults. Analyzing anatomic localization, a second important difference could be found: in contrast to group 2, almost two thirds of all anal fistulas/abscesses in group 1 were localized horizontally between 3:00 and 9:00 o'clock in crown-rump position. CONCLUSIONS: Divergences in preference of age, sex, and localization suggest a congenital etiology for anal fistulas and perianal abscesses in children.

Anesthesia management in Kabuki make-up syndrome.

Kabuki make-up syndrome KMS is a rare condition with a number of characteristic congenital abnormalities. The syndrome is characterized by peculiar facial appearance resembling the make-up of actors in Kabuki, the traditional Japanese theater, skeletal anomalies, dermatoglyphic abnormalities, postnatal growth deficiency, and mental retardation. These are rare reports of central nervous system dysfunctions, other than mental retardation, and no previously described congenital talipes calcaneo-valgus in this syndrome. We report the case of a 22-month-old girl having Kabuki make-up. At presentation, she had an adenoid hypertrophy and a history of recurrent otitis media. She had also delay in motor development, and a postnatal growth deficiency. The variable phenotypic expression is a well-known characteristic of the syndrome. For that reason, we should perform careful morphologic examination in every patient and their parents, and use flexotype laryngoscope Heine, Germany to visualize vocal cord in case of difficult intubation. At preoperative examination, as clinicians, we must be careful regarding patient morphology. Congenital heart defects and epilepsy are important for anesthesia management in KMS.

Urogenital sinus, rectovaginal fistula, and an anterior stenosed anus--another cloacal variant.

The persistent cloaca is one of the most complex and challenging developmental malformations. It is a rare anomaly occurring only in the female newborn and is represented by the association of urogenital sinus with an anorectal malformation (ARM). Each case is probably unique. We report here one such case of cloaca with the VATER association-tracheoesophageal fistula (TOF) with a urogenital sinus, rectovaginal fistula, and an anteposed stenosed anus, along with preaxial syndactyly of the right hand. The spine, renal, and cardiac systems were normal. Interim management was directed towards repair of the TOF and a right transverse defunctioning colostomy. Despite thorough radioendoscopic preoperative investigations, the complexity of the cloacal anomaly was not delineated until surgery. This case is a rather rare combination of an intermediate form of the cloacal-ARM spectrum. Such patients present with many diagnostic and therapeutic problems. Interval surgery should be directed towards decompression of the affected organ systems, and definitive surgery must be carefully planned and, whenever possible, done in a single stage with simultaneous multisystem repair to correct all significant malformations related to the cloacal complex.