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European Journal of Pediatric Surgery... Jan 2023Cloacal malformations comprise a heterogeneous group of anomalies that are considered the most complex anorectal malformations (ARMs) in females. Precise evaluation...
Cloacal malformations comprise a heterogeneous group of anomalies that are considered the most complex anorectal malformations (ARMs) in females. Precise evaluation to identify the unique anatomy prior to reconstruction with collaboration between colorectal surgeons, urologists, and gynecologists is vital. Here, we present a rare anatomical variation in a patient with a cloacal malformation which affected operative and postoperative management. A 6-year-old female with cloaca who underwent colostomy, vaginostomy, and vesicostomy as a newborn presented for reconstruction. Her VACTERL workup was negative except for an atretic right kidney. Her ARM index included the cloaca, a normal spine, and sacrum with a lateral sacral ratio of 0.7, predicting good potential for bowel continence. Cystoscopy through the vesicostomy showed a small bladder with normal ureteral orifices, and a closed bladder neck, with no identifiable urethra. A cloacagram showed an atretic common channel, a single small vagina, and a rectum below the pubococcygeal line. The patient underwent a posterior sagittal anorectovaginourethroplasty, vaginal patch using rectum, rectoplasty, and perineal body reconstruction. The urethra was not amenable to reconstruction, so the vesicostomy was preserved and a future Mitrofanoff was planned. Urethral atresia is a rare and challenging finding in cloaca patients, and a vesicostomy is needed to drain urine in the newborn period. Preoperative examination under anesthesia, cystoscopy, vaginoscopy, and cloacagram are crucial to identify the precise anatomy and to plan accordingly.
PubMed: 36760663
DOI: 10.1055/s-0043-1761206 -
Pediatric Surgery International Feb 2024Hirschsprung's disease (HD) may result in an impaired quality of life (QoL) due to bowel problems, postoperative complications and other health-related issues. The...
BACKGROUND
Hirschsprung's disease (HD) may result in an impaired quality of life (QoL) due to bowel problems, postoperative complications and other health-related issues. The Hirschsprung and Anorectal Malformation Quality of Life (HAQL) questionnaire is a disease-specific instrument developed in the Netherlands to measure the QoL in patients with HD and anorectal malformations. The aim of this study was to translate, culturally adapt and validate HAQL in a Danish Hirschsprung population.
MATERIAL AND METHODS
Translation and cultural adaptation were performed according to international guidelines. Invitations to participate in the validation were sent to 401 patients operated for HD during the period from 1985 to 2012. A total of 156 patients completed the translated and culturally adapted Danish versions of HAQL and 35 parents of children and adolescents completed the corresponding parent questionnaire. Reliability was evaluated in terms of internal consistency using Cronbach's α and test-retest reliability using Intraclass Correlation Coefficient for the retest step. Known groups comparison was performed with comparison of mild HD (defined as recto-sigmoidal HD) and serious HD (defined as more proximal disease).
RESULTS
The internal consistency of the dimensions was overall satisfactory for adults and adolescents but more problematic for children, where Cronbach's α was less than 0.7 in 60% of the dimensions. For both children and adolescents, the α-value was unsatisfactory for social functioning, emotional functioning, and body image. The test-retest reliability was overall good. The known groups comparison was only able to demonstrate a significant difference between mild and severe HD within one dimension.
CONCLUSIONS
The translated version of the HAQL questionnaires provides an overall reliable instrument for evaluating disease-specific QoL in a Danish HD population, but it is important to acknowledge the limitations of the questionnaire, especially in children and adolescents.
Topics: Adult; Child; Adolescent; Humans; Quality of Life; Anorectal Malformations; Reproducibility of Results; Surveys and Questionnaires; Hirschsprung Disease; Denmark
PubMed: 38334791
DOI: 10.1007/s00383-024-05634-y -
Pediatric Gastroenterology, Hepatology... Jul 2022The treatment and long term clinical outcomes of anorectal malformations (ARM) in children have always been the focus of pediatric surgeons. This study aimed at...
PURPOSE
The treatment and long term clinical outcomes of anorectal malformations (ARM) in children have always been the focus of pediatric surgeons. This study aimed at reporting our experience as far as long-term follow-up of ARM in children is concern.
METHODS
We enrolled patients treated between 1999 and 2019, and established selection criteria to choose appropriate subjects. A validated questionnaire was used to determine long-term quality of life outcomes.
RESULTS
Out of a total of 48 patients treated within the study period, 28 were enrolled in this study. Among the latter, more than 35% had at least one long-time complication, and more than 90% had a good lifestyle. Urinary and fecal continence was achieved in more than 95% of the patients using medical devices.
CONCLUSION
This study aimed to bring up new concepts; taking into consideration all aspects of life in patients with ARM, from school life to sexuality, while evaluating fecal and urinary continence. This is essential for the improvement of the skills of the different specialists involved in the management of these patients, and for the implementation of strategies that can improve postoperative function. Most especially, it will also help improve communication between doctors to ensure an adequate transition of these children into adult life.
PubMed: 35903487
DOI: 10.5223/pghn.2022.25.4.340 -
Pakistan Journal of Medical Sciences Jan 2022Congenital Pouch Colon (CPC) is a rare anorectal malformation (ARM) in which a part of or the entire colon is replaced by pouch-like dilatation. Males are more likely to...
Congenital Pouch Colon (CPC) is a rare anorectal malformation (ARM) in which a part of or the entire colon is replaced by pouch-like dilatation. Males are more likely to be diagnosed with the condition compared to females. The highest incidence of the disease is in South Asia, with a significant number of cases reported from India. Early diagnosis can be made when there are hypoechogenic lesions on antenatal ultrasound scans. We report a case of a neonate with routine antenatal scans who presented with a distended abdomen and inability to pass feces. The diagnosis was made in the early neonatal period, followed by surgical management.
PubMed: 35310792
DOI: 10.12669/pjms.38.ICON-2022.5771 -
World Journal of Gastrointestinal... Oct 2016Over the last two decades, advances in laparoscopic surgery and minimally invasive techniques have transformed the operative management of neonatal colorectal surgery... (Review)
Review
Over the last two decades, advances in laparoscopic surgery and minimally invasive techniques have transformed the operative management of neonatal colorectal surgery for conditions such as anorectal malformations (ARMs) and Hirschsprung's disease. Evolution of surgical care has mainly occurred due to the use of laparoscopy, as opposed to a laparotomy, for intra-abdominal procedures and the development of trans-anal techniques. This review describes these advances and outlines the main minimally invasive techniques currently used for management of ARMs and Hirschsprung's disease. There does still remain significant variation in the procedures used and this review aims to report the current literature comparing techniques with an emphasis on the short- and long-term clinical outcomes.
PubMed: 27830038
DOI: 10.4240/wjgs.v8.i10.670 -
International Journal of Surgery Case... May 2023Anorectal malformation is associated with congenital anomalies affecting other body systems, including vertebral, anorectal, cardiac, tracheoesophageal, renal and limb...
INTRODUCTION AND IMPORTANCE
Anorectal malformation is associated with congenital anomalies affecting other body systems, including vertebral, anorectal, cardiac, tracheoesophageal, renal and limb defects. Mayer-Rokitansky-Küster-Hauser syndrome is a collection of several congenital defects in the female reproductive system, including congenital agenesis of the uterus, cervix, and upper two-thirds of the vagina, that could be associated with anorectal malformation.
CASE PRESENTATION
A 3-year old female initially treated for vestibular fistula as she had only two orifices, who intra-operatively was discovered to have Mayer-Rokitansky-Küster-Hauser syndrome associated with cardiac, skeletal (foot), and anorectal anomalies.
CLINICAL DISCUSSION
The diagnosis Mayer-Rokitansky-Küster-Hauser syndrome should be considered in a female patient presenting with anorectal malformation especially when two orifices are encountered in the perineum. Mayer-Rokitansky-Küster-Hauser syndrome can be associated with vestibular or rectovaginal fistula, of which the former is the most common type that coexists. Treatment involves surgical and nonsurgical approaches, Surgically a new cavity is created to replace the vagina with a mucous membrane lined canal such as a bowel segment.
CONCLUSION
This case demonstrates that anorectal malformation with Mayer-Rokitansky-Küster-Hauser syndrome can be mistaken for a vestibular fistula, even in specialized centers like ours. Therefore, a high index of suspicion should be noted especially when examination under anesthesia confirms only two orifices in the perinium.
PubMed: 37060764
DOI: 10.1016/j.ijscr.2023.108120 -
Children (Basel, Switzerland) Jun 2023Patients with anorectal malformation (ARM) need long-term follow-up, in order to evaluate fecal continence; the main predictors of longer-term success are the type of...
BACKGROUND
Patients with anorectal malformation (ARM) need long-term follow-up, in order to evaluate fecal continence; the main predictors of longer-term success are the type of ARM, associated anomalies and sacral integrity. Three-Dimensional High Resolution Anorectal Manometry (3D-HRAM) gives detailed information on pressure on the anal complex profile. Our objective was to analyze anal sphincter activity in ARM patients with 3D-HRAM establishing the correlation between manometric and clinical data.
METHODS
Forty ARM patients were submitted to 3D-HRAM: manometric, anatomical and clinical scores were correlated with each other and with the bowel management response (BM).
RESULTS
A positive correlation between all scores and types of ARM was found: in high ARM and in patients with spinal anomalies (regardless to ARM type) lower scores were reported and even after BM they did not achieve good continence.
CONCLUSIONS
3D-HRAM gives detailed data on the functional activity of the anal sphincter complex. Our study revealed a correlation between manometric parameters and clinical outcomes, confirming spinal malformations and ARM type as the most important prognostic risk factors for a bad outcome. Specific sphincteric defects can also be explored with manometry, allowing for tailored bowel management strategies.
PubMed: 37371268
DOI: 10.3390/children10061037 -
BMC Pediatrics Dec 2022Children with anorectal malformation (ARM) and Hirschsprung's Disease (HD) live with permanent urinary and bowel symptoms, possibly impairing motor development in early...
BACKGROUND
Children with anorectal malformation (ARM) and Hirschsprung's Disease (HD) live with permanent urinary and bowel symptoms, possibly impairing motor development in early childhood. Not being able to swim adds an unnecessary health risk. The aim of this study was to determine the ability to swim and physical self-concept in patients with ARM and HD.
METHODS
We performed an anonymous survey among the members of the national patient organization SoMA e.V. (6 through 25 years). A control group was recruited from our department. Ability to swim, symptom load according to Rintala Score and physical self-concept were recorded using validated questionnaires. Patients were matched with controls according to gender and age. Mean scores and 95%-confidence intervals (95%-CI) were calculated, χ-test and multiple linear regression models were used as appropriate.
RESULTS
Totally, 83 match-control-pairs were included. Patients learned to swim at a similar age and rate (6.5 years, 95%-CI: 6.1-6.9, 74.7% swimmers) compared to controls (6.4 years, 95%-CI: 6.1-6.8, 79.5% swimmers, p = 0.46). VACTERL patients had a significantly lower swimmer rate (59.1%, p = 0.048). Swimmers had a significantly higher mean Rintala Score (12.5, 95%-CI: 11.6-13.2) compared to non-swimmers (10.4, 95%-CI: 8.1-12.1, p = 0,049). In prepubertal children (6 through 12 years), no difference in physical self-concept was shown compared to controls. Adolescents and young adults with ARM/HD, especially females, had a significantly lower mean score for the subscales of flexibility, speed, endurance and sports competence, independent of bowel symptom load according to Rintala Score.
CONCLUSIONS
Patients with ARM/HD have normal swimming skills and a normal physical self-concept in childhood that decreases with age compared to peers. In adolescence, parents and health care professionals should actively promote physical activity in ARM/HD patients.
Topics: Child; Adolescent; Young Adult; Female; Humans; Child, Preschool; Anorectal Malformations; Hirschsprung Disease; Case-Control Studies; Swimming; Surveys and Questionnaires
PubMed: 36517764
DOI: 10.1186/s12887-022-03782-5 -
African Journal of Paediatric Surgery :... 2020We had done this study for TEF with Anorectal malformation and TEF with no Anorectal malformation in terms of age, sex, surgical outcomes and mortality.
AIM
We had done this study for TEF with Anorectal malformation and TEF with no Anorectal malformation in terms of age, sex, surgical outcomes and mortality.
MATERIALS AND METHODS
This was a retrospective review of cases with clinical data (from April 2012 to April 2017). The participants of this study were 236 patients who had been diagnosed and managed for ARM. Among these patients, 25 patients associated with EA were selected as the subject patient group.
RESULTS
The incidence of tracheoesophageal fistula with ARM was 11.1%. The study has more male preponderance. All cases are of Type c except two cases of Type a. According to the classifications of ARMs, there were two cases with rectourethral fistula and eight cases with rectoperineal fistula and covered anus in the males. In females, there was a varied distribution of seven cases. There was one case (4%) presenting as a part of the Vertebral anorectal malformation cardiac tracheoesophageal renal and limb anomalies (VACTERL) association, which is the representative example of a complex anomaly. Most of the cases died due to cardiac problem and pneumonitis (due to delayed presentation).
CONCLUSION
The study concludes the experience of EA (±fistulae) with ARM, their distribution, incidence and outcome of the tertiary care centre.
Topics: Abnormalities, Multiple; Anal Canal; Anorectal Malformations; Esophageal Atresia; Esophagus; Female; Follow-Up Studies; Humans; Incidence; India; Infant, Newborn; Male; Retrospective Studies; Tertiary Care Centers; Time Factors
PubMed: 33342833
DOI: 10.4103/ajps.AJPS_54_17 -
Annals of Medicine Dec 2022To explore the therapeutic effects of biofeedback in the treatment of faecal incontinence (FI) after surgery for anorectal malformation (ARM).
OBJECTIVE
To explore the therapeutic effects of biofeedback in the treatment of faecal incontinence (FI) after surgery for anorectal malformation (ARM).
METHODS
Clinical data were collected from paediatric patients for postoperative biofeedback due to FI caused by ARM between May 2017 and November 2021. The data included the duration of symptoms, the integrity of the anal sphincter, anorectal manometry parameters, and FI scores. These patients were divided into the low ARM group (group A) and the high ARM group (group B).
RESULTS
A total of 45 paediatric patients were enrolled in the study. There were 28 cases in group A and 17 cases in group B. The differences in age, gender, and body weight were not statistically significant between the two groups ( > 0.05). The differences in the clinical indicators were also not statistically significant between the two groups at the time of the initial evaluation. The duration of symptoms was 2.21 ± 0.71 years and 4.14 ± 1.89 years in groups A and B. There were 16 cases with an intact anal sphincter in group A and only two cases with an intact anal sphincter in group B. This difference was statistically significant between the two groups ( < .05). The anal resting pressure, initial sensitivity threshold, defaecation sensitivity threshold, defaecation urge threshold, and FI scores were significantly improved in both groups post-treatment compared to pre-treatment ( < .001). Strong impulses improved significantly in group A, while strong impulses did not improve significantly in group B. The multivariate logistic regression analysis with these variables further showed that symptom duration and anal sphincter integrity were the main factors influencing the therapeutic effects of biofeedback.
CONCLUSION
Biofeedback plays a positive role in the treatment of FI in paediatric patients following surgery for ARM. Symptom duration and anal sphincter integrity were found to be the main factors influencing the therapeutic effect of biofeedback.
Topics: Anal Canal; Anorectal Malformations; Biofeedback, Psychology; Child; Fecal Incontinence; Humans
PubMed: 36039487
DOI: 10.1080/07853890.2022.2114607