Anorectal malformation with ileal atresia

A low-type anorectal malformation associated with ileal atresia is described. It was very difficult to classify the anorectal malformation due to the presence of ileal atresia. Such anomalies are rare. A review of the literature on previously reported cases in Japan is presented. The possibility of other alimentary obstructions should be considered when anorectal anomalies are present.     

Associated anomalies with anorectal malformation (ARM)

Objective : To find the prevalence of associated anomalies in children with anorectal malformation (ARM).Methods: One hundred and forty patients (80 males and 60 females) with expand were studied to detect associated anomalies and to find their prevalence. High and low type of ARM was seen in 52.14% and 47.86% of patients respectively. Associated anomalies were more common with high type of ARM (78.08%) than in patients with low type of ARM (37.31%). 58.57% patients had associated anomalies which included those of urinary system (37.14%), vertebral system (34.28%), skeletal system other than vertebral (15.17%), genital system (14.29%), cardiovascular system (12.14%), gastrointestinal tract (10.7%) and spinal cord (10%).Results : 37.43% patients had 3 or more than 3 components of VACTERL association. Two patients had all six components of VACTERL. Most common association was vertebral, anal and renal anomalies seen in 16 patients.Conclusion : Patients with ARM should undergo a detailed general physical, systemic and radiological examination (infantogram, echocardiography, US of urogenital system) in neonatal period to detect associated anomalies in early period     

Perineal lipomas associated with anorectal malformations

Newborns with anorectal malformations may have associated perineal lipomas. These lesions are rare but may make the repair of the anorectal malformation more complex. Knowledge about the functional consequences of these lesions is scanty. The purpose of this study was to review the experience of anorectal malformations with perineal lipomas in two Scandinavian paediatric surgical centres. Six patients with perineal lipomas and anorectal malformation treated in the two centres from 1991 to 2005 were retrospectively reviewed. Bowel function was evaluated in patients more than 4 years old. Three girls and three boys (age 4 months to 14 years) with anorectal malformations and perineal lipoma were included in the study. The boys all had high anorectal malformations with rectourethral or rectovesical fistulas. Two girls had a rectovestibular fistula and one girl had a cloaca. All patients had perineal lipomas, in one associated with an anterior meningocele. The lipomas were excised at time of anorectal reconstruction. One of the patients still has a colostomy, and two colostomies were recently closed. The bowel function was evaluated in three patients. Two patients have an ACE stoma to control constipation and soiling and one is soiling despite regular washouts. In conclusion, perineal lipomas associated with anorectal malformations are rare but may distort sphincter anatomy. Excision is best performed at time of anorectal reconstruction. Although our experience is limited, bowel function seems to be compromised by these lesions.     

Occult neurovesical dysfunction with anorectal malformations

Objective To evaluate for the occurance of occult NVD in children with anorectal malformatons (ARM) using urodynamic evaluation. Methods This prospective study was carried out on children with ARM prior to and following definitive procedure. Urodynamic studies were performed on the Phoenix Griffon machine (Albyn Medical) using Phonix plus software. Result Nineteen children in the age range of 3 months to 156 months (mean=19.2) were included in this study. Among these 19 children 13 underwent re-evaluation after definitive surgery for ARM. There were 11(57.9%) males and 8(42.1%) females. Of the 19 children 14 (73.7%) were cases of high anorectal malformation (HARM) and 5 (26.3%) were cases of low anorectal malformation (LARM). Baseline evaluation done in 19 children revealed seven urodnamci patterns: Normal capacity, compliant without uninhibited contractions (UIC) (21.1%); Normal capacity, compliant with UIC (5.3%); Normal capactity, poorly compliant without UIC (5.3%); Normal capacity, poorly compliant with UIC (10.5%); small capacity, compliant with UIC (5.3%); Small capactity, poorly compliant with UIC (26.3%) and large capacity, complaint with UIC (26.3%). Thirteen patients were evaluated post operativey also and in only 23% (3 of 13) no change in urodynamic pattern were observed. In the remaining 76.9% (10 of 13) some changes in urodynamics pattern were observed. The deleterious changes observed were appearance of UIC in 30.8% (4 of 13), decrease in the bladder capacity in 23% (3 of 13) and decrease in bladder compliance in 15.4% (2 of 13). Conclusion Only 9 of of the 19 patients had normal urodynamics pre-operatively and post-operatively 3 more patients worsened. Incidence of occult NVD is high in patients with ARM even in the absence of clinical and radiological evidence of vertebral or lower uinary tract abnormalities. Though there seems to be a high incidence of changes in the neurovesical functions of these patients following definitive corrective surgery for ARM only time will show whether this has any deleterious effect on the upper tracts.     

Anorectal malformations — results of treatment and long-term follow-up in 208 patients

During a 20-year period (1964–1983) 208 patients with anorectal malformations (143 males, 65 females) were treated; 98 had low and 110 had high or intermediate malformations. Associated anomalies were detected in 67.8%. The overall mortality in the series was 14.4%; most deaths were related to associated anomalies and/or prematurity. Four different procedures were used for high and intermediate anomalies: (1) abdominoperineal (18 cases); (2) sacroabdominoperineal (38); (3) sacroperineal (8); and (4) posterior sagittal anorectoplasty (7). Neonatal anoplasty was used to correct male low anomalies. Female low and intermediate anomalies with vestibular fistula were treated with anal transposition. More than one-half of the patients with high or intermediate anomalies had complications related to surgical therapy. Major secondary surgery was performed in 41 cases (12 resections of megarectum, 29 late sphincter reconstructions). Of the living patients, 90% (159/178) were followed up for 5–25 years. A majority (93%) of the patients with low anomalies had a good outcome at the last follow-up examination. In patients with high and intermediate anomalies continence improved with time; the greatest improvement occurred after 10 years of age. At the last follow-up examination 73% of the patients with high or intermediate anomalies had acceptable social continence. Manometric evaluation revealed a rectoanal inhibitory reflex in all assessed patients with a low anomaly, indicating a functioning internal sphincter. In patients with intermediate and high anomalies a rectoanal inhibitory reflex was found only when full-thickness terminal bowel had been used in the reconstruction (by perineal and posterior sagittal repair); presence of the reflex correlated with superior fecal control. Acceptable fecal continence may be achieved in the majority of patients with anorectal anomalies. Operative methods that optimally utilize the voluntary sphincters and preserve the potential internal sphincter in the terminal rectal pouch seem to facilitate earlier development of fecal continence. Offprint requests to: R. Rintala     

Long-term outcomes of anorectal malformations

Anorectal malformations (ARMs) and cloacal anomalies are rare and complex malformations of the lower gastrointestinal and genitourinary tracts. They affect approximately 1 in 3,500 live births. The treatment of these patients has traditionally focused on achieving urinary and faecal continence, with preservation of renal function. With improved surgical techniques and paediatric intensive care facilities, these patients now live relatively normal lives, with a near-normal life expectancy. Comparing results reported by different surgeons is difficult because a wide range of terminology is employed to describe the anomalies encountered. This paper attempts to simplify some of the reported outcomes of bowel function to allow a more direct comparison between groups. Urinary outcomes were not so easily comparable due to the disparity in assessing patient outcomes. Therefore, before a global analysis of all groups can take place, a standardised terminology will be necessary. At present there is a gap in the published literature of comprehensive follow-up in this group of patients, particularly regarding reproductive and sexual functioning. More detailed information on long-term outcomes is needed in these patients to facilitate informed decision-making by the primary physician (usually the paediatric surgeon) and the parents on behalf of their child.     

Anorectal malformations associated with a presacral tumor and sacral defect

The triad of anorectal malformation, presacral mass, and sacral bony defect is quite rare. During the past 18 years, five patients with this triad were treated in our institutions. Four had covered anal or anorectal stenosis, while one infant had anorectal agenesis. There was a central defect of the sacral bone in three and sacral hemivertebrae in two patients. An additional case that had an intact sacrum but was otherwise associated with the same anomalies is also reported. In the literature, we could find 51 cases (including 5 cases of our own) that fall under this symptom complex. All patients had a presacral tumor, the commonest being teratomas and meningoceles (20 cases each). Anal or anorectal stenoses were most frequently encountered (46 cases), while malformations such as anorectal agenesis (3) or anorectal stenosis plus rectovaginal fistula (2) were seen less frequently. We therefore contend that the spectrum of this symptom complex is broader than was previously considered. Among these patients, constipation was the most common presenting symptom. Barium enema and computer tomographic studies were helpful in identifying the presence, extent, and nature of the mass. The embryogenesis is discussed, reviewing the clinical and pathological characteristics of these patients.     

小儿肛门直肠畸形术后远期生活质量的初步研究

目的　调查肛门直肠畸形术后患儿远期生活质量状况。方法　随访６５ 例肛门直肠畸形术后患儿,年龄８～１６ 岁。应用自行设计的问卷和Ａｃｈｅｎｂａｃｈ’ｓ 儿童行为量表调查排便功能障碍对患儿的社会活动和心理行为的影响,并提出远期生活质量初步评分标准,尝试评估患儿的生活质量。结果　６５ 例患儿中１４ 例饮食受限,１１ 例曾缺课,９ 例与同伴交往受限,１２ 例存在心理行为问题。排便功能差或高位肛门直肠畸形患儿受到影响较严重。根据生活质量初步评分标准,５９ 例生活质量良好。结论　严重排便功能障碍影响肛门直肠畸形术后患儿的社会活动和心理行为,影响患儿的生活质量。排便功能差的患儿生活质量差。应进行长期规律随访、生物反馈疗法和心理咨询等,改善患儿生活质量     

Spectrum of genitourinary malformations in patients with imperforate anus

A retrospective review of 244 cases of imperforate anus demonstrated a 48% incidence of associated genitourinary (GU) anomalies. The incidence and severity of associated GU anomalies was directly related to the level of the fistula between the blind-ending rectum and the GU tract. High-level fistulae to the bladder neck in males and the cloaca in females demonstrated a 90% incidence of associated genitourinary anomalies. In contrast, lower-level fistule to the perineum revealed only a 14% incidence of associated GU anomalies. Classification of anorectal anomalies by fistula level provides an accurate means of predicting the likelihood of an associated GU malformation.     

The spectrum of anorectal malformations in Africa

Anorectal malformations (ARM) remain a significant birth defect with geographic variation in incidence, individual phenotypes and regional geographic subtypes. Although early studies indicated a low incidence in Black patients, there is a great paucity of knowledge as to the types, frequency and incidence of ARMs encountered in the African continent and their associated anomalies. Current evidence suggests a significant clinical load. This study set out to evaluate ARM in Southern and other parts of Africa to define the clinical load of ARM. We retrospectively collected data on 1,401 ARM patients from six South African Paediatric Surgical units plus representative samples from five other African countries from West, Central and Southern Africa. Data included ethnic group, age, gender as well as the anatomical pathology, classification and presence or absence of associated anomalies. ARM lesions classified by the Wingspread classification plus an analysis of fistula position was carried out in evaluable cases for purposes of comparison. South African centres reported a higher prevalence of cloacae and vestibular fistulae, whereas rectovaginal, recto prostatic and anorectal malformation without fistula were more prevalent in the Northern African group. 76% of 1,401 patients were ethnically Black African [gender ratio = 2 (vs gender ratio 1.38 overall)] and 49.8% were "low" lesions (Wingspread classification). High or intermediate lesions were mostly males (72%). Anal stenosis was most prevalent in black males and non-Black females. Fistulae were identified in 95% with 682 (52%) being low (perineal/covered anus/vestibular) fistulae. Perineal fistulae had a male predilection (n = 260; 20%), whereas vestibular fistulas (n = 416; 32%) was strikingly frequent in black females (55%). Of the remainder, 15 fistulae were rectovesical (1.2%), 544 recto-urethral or prostatic (42%), 16 recto-vaginal (1.2%). In addition, there were 43 cloacal lesions (3.3%). Isolated rare ARM anomalies included "Pouch" colon (2) and H-type fistula (2). Isolated lesions occurred in 81% but 163 associated anomalies were identified in 114 patients. These included chromosomal lesions (10), genito-urinary anomalies (50), genital (16), cardiac (31), skeletal anomalies (33), gastro-intestinal malformations (28). Other anomalies included CNS anomalies (14), anterior abdominal wall defects (2) and facial (8) abnormalities and neuroblastoma (1). The ARM is not uncommon in Black African populations and constitutes a significant clinical load to surgical practice in Africa. Ethnic differences appear to exist and vestibular fistulae predominate in black females. Cloaca (3.3%) did appear to be more prevalent. Isolated lesions are frequent but the types of associated anomalies appear similar to other series except chromosomal syndromes. This study illustrates the need for more objective data from developing countries to assess geographical differences.     

Long-term outcome of anorectal malformations: the patient perspective

To assess the long-term outcome of surgery for anorectal malformations (ARM) from the patient’s perspective. One hundred and sixty seven children were operated for ARM between 1982 and 2000. Disease impact questionnaires to assess both clinical and psychological outcomes were sent to 137 eligible families. Statistical analysis was performed using SPSS version 11.5. The response rate was 61% (n = 84). Sixty six percent had soiling. There was no significant difference in the incidence of soiling between genders or between the younger child and adolescent. Soiling was significantly increased in high (86%) and intermediate (79%) compared to low (43%) malformation (P = 0.001). Constipation was seen in 62% and abdominal pain in 49%, with no significant difference between malformation levels. Overall, 71% had associated anomalies. Although 44% had a documented urological abnormality, clinical significant problems were seen in only 30%. Eighty percent of the children had one or more behavioural problems and 15% expressed suicidal thoughts. ARM had a negative impact on the social life of the child in 52% and on family functioning in 50%. Soiling (P = 0.000), presence of associated anomalies (P = 0.001), constipation (P = 0.005), level of ARM (P = 0.015) and abdominal pain (P = 0.039) correlated significantly with psychosocial morbidity. Despite these findings, 62% of adolescents and 71% of children below 12 years with their parents reported above average global hopefulness score, remaining hopeful for the future. Children with ARM have ongoing physical and social morbidity, indicating the need for continuing multidisciplinary review and support to optimise their quality of life.     

先天性肛门直肠畸形Hoxd 13基因表达的研究(英文)

目的：检测Hoxd 13基因在肛门直肠畸形病人和正常人的直肠末端表达状况 ,探讨Hoxd 13基因与人类先天性肛门直肠畸形发生的关系。方法：应用RT -PCR方法检测Hoxd 13基因在 16例肛门直肠畸形患儿和 5例正常儿童直肠末端的表达水平。结果：Hoxd 13基因mRNA在先天性无肛畸形直肠末端表达水平明显低于正常直肠末端的表达 (0 .32± 0 .36vs 0 .73± 0 .10 )。 (P <0 .0 1)。结论：Hoxd 13基因表达可能与人类先天性肛门直肠畸形的发生有关     

肛门直肠畸形大鼠泄殖腔胚胎发育过程中细胞凋亡的研究(英文)

目的肛门直肠正常胚胎发育过程中,细胞凋亡发挥重要作用。该研究调查了肛门直肠畸形(anorectal malformation,ARM)胎鼠泄殖腔胚胎发育过程中细胞凋亡情况,以了解ARM胚胎发育过程中细胞凋亡的作用。方法在胚胎发育的第10天,通过胃管注入乙烯硫脲(125 mg/kg)致畸孕鼠,诱导ARM胚胎。在胚胎发育的第13,13.5,14,15和16天,利用苏木素-伊红和TUNEL染色技术检测正常对照胚胎(n=102)和ARM胚胎(n=147)泄殖腔凋亡细胞的分布。结果对照组胚胎第13天尿直肠隔可见凋亡细胞,随着胚胎发育,尿直肠隔间质内的凋亡细胞逐渐增多;直肠背侧间质可见大量凋亡细胞。胚胎第14天,直肠末端和未来肛门开口处的泄殖腔膜开始出现凋亡细胞。胚胎第15天,尿直肠隔与泄殖腔膜融合,尿直肠隔间质内的凋亡细胞一直向下延伸到融合部位。ARM胎鼠与对照组胎鼠相比,在胚胎发育过程中尿直肠隔间质、直肠背侧间质和泄殖腔膜的凋亡细胞均明显减少。ARM胎鼠尿直肠隔的发育明显延迟,未与泄殖腔膜融合。结论在泄殖腔的胚胎发育过程中,尿直肠隔间质、直肠背侧间质和泄殖腔膜细胞凋亡的异常是导致ARM的原因之一。细胞凋亡的正常调控是保证肛门直肠胚胎期正常发育的关键机制之一。     

Delays in the diagnosis of anorectal malformations are common and significantly increase serious early complications

Aim: To clarify the extent of delayed diagnosis of anorectal malformations and the consequences of delaying this diagnosis. Methods: We performed a retrospective case review of all neonatal admissions with an anorectal malformation to a tertiary paediatric surgery unit. A delayed diagnosis was considered to be one made 24 h or more after birth. Results: 75 patients were included in the study group: 31 (42%) had a delay in the diagnosis; 44 (58%) had no delay in the diagnosis. The time of diagnosis where a delay had occurred ranged from 2-16 (median 2) d. A delay in diagnosis could not be accounted for by differences in age, sex, birthweight, gestational age, the severity or visibility of the lesion, the need for neonatal special or intensive care, or the presence of other anomalies. There were significantly more complications (including one death) amongst the group of children who had a delay in the diagnosis of an anorectal malformation. There was no significant difference in long-term functional outcome.

Conclusion: Delays in the diagnosis of anorectal malformations are much more common than previously thought. A delay in diagnosis significantly increases the risk of serious early complications and death.     

Risk factors in the primary management of anorectal malformations in Northern India

The purpose of this study was to determine the major factors influencing the survival of babies with anorectal malformation (ARM) during the primary management in the neonatal period in a tertiary referral center. The outcome of 125 neonates with ARM, treated in a single hospital during a 2-year period, was analyzed retrospectively with particular reference to birth weight, time of arrival, and the type of ARM, including pouch colon and major associated anomalies, to see whether any of them had a significant effect on initial survival. High ARM (HARM) was present in 75, low ARM (LARM) in 36, and pouch colon in 14 babies. There were a total of 28 deaths (22%). In babies with isolated HARM weighing >2.5 kg and brought to the hospital within the first 48 h of life, the survival was 100%, which dropped to 80% when brought later than 48 h. Of the babies with birth weight <2.5 kg and isolated HARM but who were brought to the hospital within the first 48 h of life, 80% survived, whereas of those reaching the hospital after 48 h, only 55% survived. Two babies with pouch colon and two of the four babies with LARM and associated anomalies died. In the HARM group, of the 31 babies with major associated anomalies, only 37% with birth weight <2.5 kg and 58% with birth weight >2.5 kg survived. Low birth weight, major associated anomalies, and delay in referral were the three important factors that influenced the outcomes of babies with ARM during the neonatal period.     

Posterior sagittal anorectoplasty: Results in the management of 332 cases of anorectal,malformations

This is a retrospective evaluation of the functional results obtained in 332 patients who underwent posterior sagittal anorectoplasty (PSARP) for the treatment of an anorectal malformation. All patients were operated on by the same person between September 1980 and June 1987. One hundred sixty-one patients were excluded: younger than 3 years, mentally retarded, colostomy still open, deaths, lost to follow-up, and having complex malformations. Patients were grouped according to their potential for continence. Voluntary bowel movements were considered one of the best indicators of fecal continence and were found among patients with a normal sacrum in 77% of those with rectourethral fistula and 30% of those with a vesical fistula. Except in 1 case, all patients with a normal sacrum and low malformation, vestibular fistula, anorectal agenesis without fistula, persistent cloaca, and atresia or stenosis had voluntary bowel movements. Different degress of soiling were present in patients with a normal sacrum including 20% with vestibular fistula, 30% with no fistula, 25% with atresia or stenosis, 61% with rectourethral fistula, 75% with cloacas, 50% with vesical fistulae, and 0% low malformations. Different degrees of constipation were found in patients with a normal sacrum including 50% with low malformations, 70% with vestibular fistulae, 55% with no fistula, 25% with atresia or stenosis, 30% with urethral fistulae, 75% with cloacas, and 50% with vesical fistulae. In contrast, only 20% of patients with more than 3 sacral vertebrae missing achieved voluntary bowel movements; 60% suffered constant soiling, 20% constipation, and 60% urinary incontinence. All evaluations were done without medical management. The average age of patients with voluntary bowel movements was 4.5 years; for patients without voluntary bowel movements it was 4 years. Patients with a normal sacrum and fecal incontinence operated upon elsewhere underwent secondary PSARP, achieving marked improvement in 45% of cases, some improvement in 37%, and no improvement in 18%. In contrast, those with an abnormal sacrum achieved 20%, 30%, and 50% respectively in each of the above-mentioned categories.     

Vascular malformations

Vascular malformations are rare but important skin disorders in children, which often require multidisciplinary care. The goal of this article is to orient pediatricians to the various types of vascular malformations. We discuss the clinical characteristics, diagnostic criteria, and management of capillary, venous, arteriovenous, and lymphatic malformations. Associated findings and syndromes are also discussed briefly.     

Diphallus and associated anomalies

A rare case of diphallus associated with multiple urethras, double bladders, rectourethral fistula, and rectocutaneous fistula is reported. The surgical management is detailed. Offprint requests to: A. Nojmaldin     

Nonfluoroscopic pressure colostography in the evaluation of genitourinary fistula of anorectal malformations: experience in a resource-poor environment

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

肛门直肠畸形人类及大鼠神经系统的并发症及神经支配研究进展

先天性肛门直肠畸形(anorectal malformations,ARM)是最常见的小儿消化道畸形,占消化道畸形的1/4.尽管长期以来ARM的手术方式得到不断改进,但长期随访发现仍有许多中高位ARM患儿术后存在不同程度的排便功能障碍.研究人员意识到术后肛门直肠功能不良取决于许多因素,骶尾椎畸形以及骶尾部脊髓发育不良已成为影响术后排便功能的重要因素.研究人员通过对人类胚胎以及动物实验研究发现,腰骶椎异常是ARM常见的伴发畸形,腰骶髓神经细胞存在减少的现象.人类和大鼠胚胎发育过程中涉及肛门直肠和盆底肌神经支配的相关因素繁多.该文介绍人类及大鼠肛门直肠畸形神经系统并发症以及神经支配的异常,总结对该病合并神经支配异常的认识和研究发展过程,并提出了关于肛门直肠畸形神经系统研究的新方向,探索改善肛门直肠畸形手术预后的新策略.