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Frontiers in Surgery 2019Anorectal malformation is one of the most common structural congenital malformations treated by pediatric surgeons globally. The outcome of care is largely dependent on... (Review)
Review
Anorectal malformation is one of the most common structural congenital malformations treated by pediatric surgeons globally. The outcome of care is largely dependent on the spectrum, clinical features, associated malformations, expertise of the surgeons, and available perioperative facilities. Africa has a large burden of unmet surgical needs in children, and as in other low resource settings, local pediatric surgeons are faced with different and challenging clinical scenarios, hence, adopt various measures to enable children with surgically correctable congenital malformations to survive. There are increasing collaborations between local surgeons and experts in other continents, which often involves surgeons traveling to Africa on missions or well-structured partnerships. It is highly beneficial for the physician who is interested in global-surgery to understand the terrain in low resource settings and prepare for possible changes in management plan. This review highlights the epidemiology, clinical presentation, treatment, and outcome of care of children with anorectal malformations in Africa and provides options adopted by pediatric surgeons working with limited resources.
PubMed: 30891450
DOI: 10.3389/fsurg.2019.00007 -
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 -
Children (Basel, Switzerland) Jun 2022Cloaca is a rare, complex malformation encompassing the genitourinary and anorectal tract of the female in which these tracts fail to separate in utero, resulting in a... (Review)
Review
Cloaca is a rare, complex malformation encompassing the genitourinary and anorectal tract of the female in which these tracts fail to separate in utero, resulting in a single perineal orifice. Prenatal sonography detects a few cases with findings such as renal and urinary tract malformations, intraluminal calcifications, dilated bowel, ambiguous genitalia, a cystic pelvic mass, or identification of other associated anomalies prompting further imaging. Multi-disciplinary collaboration between neonatology, pediatric surgery, urology, and gynecology is paramount to achieving safe outcomes. Perinatal evaluation and management may include treatment of cardiopulmonary and renal anomalies, administration of prophylactic antibiotics, ensuring egress of urine and evaluation of hydronephrosis, drainage of a hydrocolpos, and creation of a colostomy for stool diversion. Additional imaging of the spinal cord and sacrum are obtained to plan possible neurosurgical intervention as well as prognostication of future bladder and bowel control. Endoscopic evaluation and cloacagram, followed by primary reconstruction, are performed by a multidisciplinary team outside of the neonatal period. Long-term multidisciplinary follow-up is essential given the increased rates of renal disease, neuropathic bladder, tethered cord syndrome, and stooling issues. Patients and families will also require support through the functional and psychosocial changes in puberty, adolescence, and young adulthood.
PubMed: 35740825
DOI: 10.3390/children9060888 -
Medical Journal, Armed Forces India Oct 2018
PubMed: 30449925
DOI: 10.1016/j.mjafi.2017.07.006 -
Current Pediatric Reviews 2019Congenital Pouch Colon (CPC) is an anorectal anomaly with an incidence of 3.5:1 in males and females, respectively. We have earlier reported CPC to be quite prevalent in... (Review)
Review
BACKGROUND
Congenital Pouch Colon (CPC) is an anorectal anomaly with an incidence of 3.5:1 in males and females, respectively. We have earlier reported CPC to be quite prevalent in north Indian tertiary care centers.
OBJECTIVE
In this article, we deliberate on the possible causes associated with CPC bringing the manifestation of the disease. In addition, we throw insights on the effective role of this congenital anomaly in Colon and provide systems genomic evaluation by comparing our recent analysis to that of Colon and Ileum based on Next-Generation Sequencing (NGS) studies.
CONCLUSION
In this commentary article, we argue that a host of epigenetic factors could be the reason why the disease is manifested in colon alone. We further hypothesize on the few unmet challenges linking epigenetics to understand the genetic variants.
Topics: Anorectal Malformations; Child; Colon; Digestive System Surgical Procedures; Fecal Incontinence; High-Throughput Nucleotide Sequencing; Humans; Ileum; Postoperative Complications; Exome Sequencing
PubMed: 31465285
DOI: 10.2174/1573396315666190829155930 -
Journal of Clinical Medicine Mar 2023Despite surgical correction, children with anorectal malformations may experience long-term bowel dysfunction, including fecal incontinence and/or disorders of... (Review)
Review
Despite surgical correction, children with anorectal malformations may experience long-term bowel dysfunction, including fecal incontinence and/or disorders of evacuation. Anorectal manometry is the most widely used test of anorectal function. Although considerable attention has been devoted to its application in the anorectal malformation cohort, there have been few attempts to consolidate the findings obtained. This systematic review aimed to (1) synthesize and evaluate the existing data regarding anorectal manometry results in children following anorectal malformation repair, and (2) evaluate the manometry protocols utilized, including equipment, assessment approach, and interpretation. We reviewed four databases (Embase, MEDLINE, the Cochrane Library, and PubMed) for relevant articles published between 1 January 1985 and 10 March 2022. Studies reporting post-operative anorectal manometry in children (<18 years) following anorectal malformation repair were evaluated for eligibility. Sixty-three studies were eligible for inclusion. Of the combined total cohort of 2155 patients, anorectal manometry results were reported for 1755 children following repair of anorectal malformations. Reduced resting pressure was consistently identified in children with anorectal malformations, particularly in those with more complex malformation types and/or fecal incontinence. Significant variability was identified in relation to manometry equipment, protocols, and interpretation. Few studies provided adequate cohort medical characteristics to facilitate interpretation of anorectal manometry findings within the context of the broader continence mechanism. This review highlights a widespread lack of standardization in the anorectal manometry procedure used to assess anorectal function in children following anorectal malformation repair. Consequently, interpretation and comparison of findings, both within and between institutions, is exceedingly challenging, if not impossible. Standardized manometry protocols, accompanied by a consistent approach to analysis, including definitions of normality and abnormality, are essential to enhance the comparability and clinical relevance of results.
PubMed: 37048627
DOI: 10.3390/jcm12072543 -
Pediatric Surgery International Nov 2014The anorectal and urogenital systems arise from a common embryonic structure termed cloaca. Subsequent development leads to the division/septation of the cloaca into the... (Review)
Review
The anorectal and urogenital systems arise from a common embryonic structure termed cloaca. Subsequent development leads to the division/septation of the cloaca into the urethra, urinary bladder, vagina, anal canal, and rectum. Defective cloacal development and the resulting anorectal and urogenital malformations are some of the most severe congenital anomalies encountered in children. In the most severe form in females, the rectum, vagina, and urethra fail to develop separately and drain via a single common channel known as a cloaca into the perineum. In this review, we summarize our current knowledge of embryonic cloaca development and malformation, and compare them to what has already been described in the literature. We describe the use of mouse models of cloaca malformation to understand which signaling pathways and cellular mechanisms are involved in the process of normal cloaca development. We also discuss the embryological correlation of the epithelial and stromal histology found in step sections of the common channel in 14 human cloaca malformations. Finally, we highlight the significance of these findings, compare them to prior studies, and discuss their implications for the pediatric surgeons. Understanding and identifying the molecular basis for cloaca malformation could provide foundation for tissue engineering efforts that in the future would reflect better surgical reconstruction and improved quality of life for patients.
Topics: Anal Canal; Animals; Anorectal Malformations; Anus, Imperforate; Cloaca; Disease Models, Animal; Female; Humans; Infant, Newborn; Mice; Pregnancy; Rectum; Urogenital Abnormalities
PubMed: 25217828
DOI: 10.1007/s00383-014-3593-8 -
International Journal of Surgery Case... May 2021Intestinal malformations, such as intestinal atresia, malrotation, and anorectal malformation, are rare events, but concurrent intestinal atresia and anorectal...
INTRODUCTION
Intestinal malformations, such as intestinal atresia, malrotation, and anorectal malformation, are rare events, but concurrent intestinal atresia and anorectal malformation are rare in combination. These anomalies have similar in utero and perinatal symptoms, which can make the diagnosis of both defects prenatally challenging.
PRESENTATION OF CASE
We present a case of a male infant with a prenatal diagnosis of truncus arteriosus who on a 32-week routine prenatal ultrasound was suspected to have an intestinal malformation. On day of life one, the patient was taken to the operating room and found to have both type IIIa ileal atresia and anorectal malformation with normal bowel in between. A complete work up for vertebral defects, anorectal malformation, cardiac septal defects, esophageal atresia, renal anomalies, and radial limb defects (VACTERL) anomalies did not reveal additional anomalies.
DISCUSSION
In this case, prenatal information supported intestinal obstruction, and the rare combination of both intestinal atresia and anorectal malformation proved surprising and interesting.
CONCLUSION
We suggest providers be aware of the potential of multiple alimentary tract malformations to improve operative preparation and reduce the morbidity or mortality risk from repeat procedures when possible.
PubMed: 33964718
DOI: 10.1016/j.ijscr.2021.105945 -
Sultan Qaboos University Medical Journal Aug 2022
Topics: Anorectal Malformations; Humans; Male; Penis
PubMed: 36072063
DOI: 10.18295/squmj.9.2021.139 -
Journal of Indian Association of... 2023Gastrointestinal (GI) duplications are rare congenital malformations with diverse presentations. They usually present in the pediatric age, especially in the first 2...
CONTEXT
Gastrointestinal (GI) duplications are rare congenital malformations with diverse presentations. They usually present in the pediatric age, especially in the first 2 years of life.
AIMS
To present our experience with GI duplication (cysts) at a pediatric surgery tertiary care teaching institute.
SETTINGS AND DESIGN
It is a retrospective observational study undertaken in the department of pediatric surgery at our center between 2012 and 2022 for GI duplications.
MATERIALS AND METHODS
All children were analyzed for their age, sex, presentation, radiological evaluation, operative management, and outcomes.
RESULTS
Thirty-two patients were diagnosed with GI duplication. Slight male predominance was present in the series (M: F ≈ 4:3). Fifteen (46.88%) patients presented in the neonatal age group; 26 (81.25%) patients were under 2 years. In the majority of cases ( = 23, 71.88%), the presentation was acute onset. Double duplication cysts on opposite sides of the diaphragm were present in one case. The most common location was ileum ( = 17), followed by gallbladder ( = 6), appendix ( = 3), gastric ( = 1), jejunum ( = 1), esophagus ( = 1), ileocecal junction ( = 1), duodenum ( = 1), sigmoid ( = 1), and anal canal ( = 1). Multiple associations (malformations/surgical pathologies) were present. Intussusception ( = 6) was the most common, followed by intestinal atresia ( = 5), anorectal malformation ( = 3), abdominal wall defect ( = 3), hemorrhagic cyst ( = 1), Meckel's diverticulum ( = 1), and sacrococcygeal teratoma ( = 1). Four cases were associated with intestinal volvulus, three cases with intestinal adhesions, and two with intestinal perforation. Favorable outcomes were present in 75% of cases.
CONCLUSION
GI duplications have varied presentations depending on site, size, type, local mass effect, mucosal pattern, and associated complications. The importance of clinical suspicion and radiology cannot be underrated. Early diagnosis is required to prevent postoperative complications. Management is individualized as per the type of duplication anomaly and its relation with the involved GI tract.
PubMed: 37197242
DOI: 10.4103/jiaps.jiaps_108_22