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Clinics in Perinatology Dec 2022Anorectal malformations occur in 1 in 3000 to 5000 children, and present with a marked variety in type and severity. Most of the malformations are diagnosed in the early... (Review)
Review
Anorectal malformations occur in 1 in 3000 to 5000 children, and present with a marked variety in type and severity. Most of the malformations are diagnosed in the early neonatal period, as an antenatal diagnosis remains relatively elusive. Following diagnosis, an accurate assessment and focused management is crucial to reduce the potential for morbidity and mortality. This review focuses on the investigation and management of newborns with anorectal malformations, and the introduction of novel assessment tools for the more complex malformation types.
Topics: Child; Infant, Newborn; Female; Humans; Pregnancy; Anorectal Malformations; Parturition; Prenatal Diagnosis; Morbidity; Rectum; Anal Canal
PubMed: 36328611
DOI: 10.1016/j.clp.2022.08.002 -
Journal of Pediatric Surgery Feb 2023Anorectal malformation (ARM) and hypospadias are both multifactorial and complex diseases, and they present in a spectrum of varieties. However, these pathologies have...
INTRODUCTION
Anorectal malformation (ARM) and hypospadias are both multifactorial and complex diseases, and they present in a spectrum of varieties. However, these pathologies have not been studied jointly in literature. The objective of this study was to look for the association between subtypes of ARM and types of hypospadias.
MATERIAL AND METHODS
We conducted a retrospective review of the male patients with ARM, who had been treated at our center. We retrieved information regarding demographic details, ARM sub-type, hypospadias type, and urological problems after the chart review. All data were analyzed using SPSS version 26.
RESULTS
A total of 408 patients were included, and 87 patients (20%) had hypospadias and ARM. There was no significant association between the severity of ARM and the severity of hypospadias. Most of the patients having proximal hypospadias belonged to the "simple" ARM group (15/22). The frequency of Vesicoureteric reflux (VUR), hydronephrosis, atrophic kidney, and at least one urological abnormality was significantly higher in patients having hypospadias and showed the strongest relationships with hypospadias. Holding the presence of hypospadias constant, ARM severity was noticeably correlated with all outcomes except solitary kidney.
CONCLUSION
We conclude that hypospadias is a common entity among patients with ARM. These patients, having dual pathologies, are at significantly higher risk to develop other urological problems. And they should be considered a special group of patients and need close surveillance for urological issues.
LEVEL OF EVIDENCE
III.
Topics: Humans; Male; Hypospadias; Anorectal Malformations; Urinary Tract; Vesico-Ureteral Reflux; Hydronephrosis; Retrospective Studies
PubMed: 36379749
DOI: 10.1016/j.jpedsurg.2022.10.012 -
Anales de Pediatria May 2023
Topics: Humans; Anorectal Malformations; Rectum; Anal Canal; Skin; Perineum
PubMed: 37061427
DOI: 10.1016/j.anpede.2023.03.003 -
Translational Gastroenterology and... 2021Currently accepted primary repair of congenital anorectal malformations (ARMs) includes a posterior sagittal incision, which allows for optimal visualization and... (Review)
Review
Currently accepted primary repair of congenital anorectal malformations (ARMs) includes a posterior sagittal incision, which allows for optimal visualization and identification of important pelvic structures and anatomical features. Reconstructive surgery involves meticulous dissection and separation of pelvic structures, and careful reconstruction can result in good functional outcomes for many patients, who live without ongoing sequelae from their malformation. However, some patients may require reoperative procedures for anatomic or functional reasons. Males and females present with slightly different symptoms and should be approached differently. Males are most likely to require reoperations for anorectal or urethral pathologies, but the urinary system is often spared in females-they instead must contend with Mullerian duct anomalies, of which there are many varieties. Depending on the original malformation and severity of symptoms, redo surgery may be needed to optimize function and quality of life. Surgical management with reoperative surgery in ARMs ranges from straightforward to complex, depending on the issue. One must weigh the risks of reoperative surgery and potentially creating more scarring against the need for a better anatomical and functional outcome. Current management trends and practice patterns with regards to reoperative surgery in ARM patients are not widely studied or standardized but we provide an overview of the more common pathologies, preoperative evaluation and workup required to identify the issues, and options for reoperative repair in these patients.
PubMed: 34423164
DOI: 10.21037/tgh-20-214 -
The Surgical Clinics of North America Oct 2022Anorectal malformations (ARM) and Hirschsprung disease (HD) are managed with placement of normal intestine within the anal sphincter complex. Long-term complications... (Review)
Review
Anorectal malformations (ARM) and Hirschsprung disease (HD) are managed with placement of normal intestine within the anal sphincter complex. Long-term complications specific to ARM include fistula remnants, recurrence, urinary reflux with associated chronic renal insufficiency, sexual dysfunction, and fertility difficulties. Complications specific to HD include enterocolitis, persistent or acquired aganglionosis, and internal sphincter achalasia. ARM and HD patients are both at risk of stricture, bowel dysfunction and incontinence, which can have a severe impact on quality of life. Bowel management strategies should be tailored to the patient's specific category of bowel dysfunction.
Topics: Anal Canal; Anorectal Malformations; Fecal Incontinence; Hirschsprung Disease; Humans; Quality of Life
PubMed: 36209741
DOI: 10.1016/j.suc.2022.07.005 -
Turkish Archives of Pediatrics Nov 2023Anorectal malformation is a disease with different subtypes and anatomical and functional multisystemic involvement that requires a unique approach in each age group....
Anorectal malformation is a disease with different subtypes and anatomical and functional multisystemic involvement that requires a unique approach in each age group. Anomalies associated with vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities (VACTERL) association require detailed investigation and management. Beginning from the neonatal period, treatment is carried out with different surgical procedures. The clinical course of these patients may be associated with medical problems, accompanying congenital anomalies, perioperative management, or late sequelae. Constipation and fecal-urinary incontinence are the most common problems encountered in long-term follow-up. Renal failure is the most important cause of long-term mortality. In addition, these patients need to be under control until adulthood due to cardiological, spinal, genital, gynecological, and endocrine problems. In this follow-up, many pediatric disciplines such as neonatal intensive care, cardiology, nephrology, gastroenterology, and endocrinology cooperate with pediatric surgeons and pediatric urologists.
PubMed: 37584470
DOI: 10.5152/TurkArchPediatr.2023.23090 -
European Journal of Pediatric Surgery :... Dec 2021Anorectal malformation (ARM) is a relatively frequently occurring congenital anomaly of hindgut development with a prevalence of 1 in 3,000 live births. ARM may present...
Anorectal malformation (ARM) is a relatively frequently occurring congenital anomaly of hindgut development with a prevalence of 1 in 3,000 live births. ARM may present as an isolated anomaly, but it can also be associated with other anomalies, sometimes as part of a recognizable syndrome. After birth, much medical attention is given to the treatment and restoring of bowel function in children with ARM. Effort should also be given to studying the etiology of the ARM in these patients. This information is important to both the medical community and the family, because it can help guide treatment and provides information on the long-term prognosis of the patient and recurrence risk in the family.In this article, we will review the current knowledge on the (genetic) etiology of (syndromic) ARM and provide guidelines for (family) history taking and clinical and genetic studies of ARM patients and their families, which is needed to study the causal factors in an ARM patient and for genetic counseling of the families.
Topics: Anorectal Malformations; Child; Genetic Counseling; Humans; Prevalence
PubMed: 34911130
DOI: 10.1055/s-0041-1740338 -
Seminars in Pediatric Surgery Dec 2022The etiology of anorectal malformations (ARM) is complicated because of the spectrum of anomalies seen clinically, many of which are isolated and seemingly unique....
The etiology of anorectal malformations (ARM) is complicated because of the spectrum of anomalies seen clinically, many of which are isolated and seemingly unique. Recent studies suggest that ARMs result from abnormal cloacal membrane (CM) development that contributes to disrupt normal local muscle and nerve development. If CM maldevelopment is severe, the rectal pouch lies above the pelvic floor, resulting in asymmetric and/or deviated musculature, so a midline incision is likely to cause trauma or be detrimental. Autonomic nerve plexuses can be associated with a fistula tract in ARMs and are also at risk for damage during surgery and contribute to genitourinary complications. Understanding the anatomy and development of the perineum is crucial for treating the broad spectrum of anomalies associated with ARMs and may assist in predicting/managing other related morbidity.
Topics: Animals; Humans; Anorectal Malformations; Cloaca; Anal Canal; Rectum
PubMed: 36417783
DOI: 10.1016/j.sempedsurg.2022.151226 -
Pediatric Surgery International Jan 2020We investigated the anorectal musclulature in normal children and anorectal malformations (ARM) to evaluate its role in bowel control mechanism. (Comparative Study)
Comparative Study
PURPOSE
We investigated the anorectal musclulature in normal children and anorectal malformations (ARM) to evaluate its role in bowel control mechanism.
METHODS
Pelves of 50 neonates died of ARM-unrelated diseases and 16 patients with anorectal malformations (8 high, 5 intermediate, and 3 low ARMs) were dissected and analyzed.
RESULTS
Normal anorectal musculature was divided into three muscular tubes: the internal sphincter tube (IAST), longitudinal muscle tube (LMT) and transverse muscle tube (TMT). The LMT came from the outer longitudinal smooth muscle fiber of the rectum and the striated muscle fiber of the levator ani, and the TMT composed of the puborectalis and the external anal sphincter. However, in ARM, the IAST was absent and the LMT, the center of the sphincter muscle complex, was only from the levator ani and could be divided into the pelvic portion and the perineal portion. The former, from the upper rim of the puborectalis to the bulbar urethral, became narrowed and dislocated anteriorly near to the posterior urethra in high ARM and rectal pouch in intermediate ARM. The latter, below the bulbar urethra to the anal dimple, was fused to a column both in high and intermediate ARM. The columnar perineal LMT run downwards and then split, penetrated the superficial part of EAS and terminated at the deep aspect of the skin, to form the anal dimple, which represents the center of the perineal LMT from the perineal aspect. The length of the LMT was longer in high and intermediate ARM than the normal neonate. The columnar perineal LMT and narrowed pelvic LMT could be possibly identified by laparoscopic and perineal approaches retrospectively and widened to allow the passage of the rectum through.
CONCLUSIONS
The anorectal musculature in ARM is composed of agenesic LMT and TMT and the narrowed LMT gives anatomical evidence of the center, where the neorectum should pull through.
Topics: Anorectal Malformations; Cadaver; Humans; Infant, Newborn; Muscle, Smooth
PubMed: 31586234
DOI: 10.1007/s00383-019-04583-1