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Cureus May 2024Introduction Congenital malformation studies serve several purposes, including establishing baseline rates, monitoring changes over time, exploring the origins of these...
Introduction Congenital malformation studies serve several purposes, including establishing baseline rates, monitoring changes over time, exploring the origins of these defects, and helping in planning health services. Increasing public awareness about pediatric surgical interventions is another goal of these studies. However, the impact of congenital malformations is often underestimated in developing countries due to insufficient healthcare data and diagnostic facilities, particularly in rural areas. Families affected by the birth of a child with congenital malformations face significant stress and hardship. Methods The main aims of this study were to evaluate the clinical pattern of congenital structural malformations in our region (Uttarakhand, India), identify possibly associated factors of congenital malformations, and find out the immediate outcome of congenital malformations in enrolled participants. Results Among a total of 150 cases, 73 (48.7%) cases were inborn, whereas 77 (51.3%) cases were outborn. Investigation of congenital malformation revealed cleft lip or palate in 37 (24.7%) cases, congenital heart disease (CHD) in 33 (22%) cases, meningomyelocele (MMC) in 18 (12.0%) cases, anorectal malformation (ARM) in 11 (7.3%) cases, hypospadias in 10 (6.7%) cases, congenital talipes equinovarus (CTEV) in nine (6.0%) cases, tracheoesophageal fistula (TEF) in nine (6.0%) cases, polydactyly in seven (4.7%) cases, pelviureteric junction obstruction (PUJO) in four (2.7%) cases, duodenal atresia in three (2.0%) cases, midgut volvulus in three (2.0%) cases, umbilical sinus in two (1.3%) cases, sacrococcygeal teratoma (SCT) in one (0.7%) case, phimosis in one (0.7%) case, microtia in one (0.7%) case, and micrognathia in one (0.7%) case. Mortality was observed in 11 (7.3%) cases, whereas 105 (70%) cases were successfully discharged. Among 11 mortality cases, the cause of death was CHD in seven (63.2%) cases, TEF+CHD in two (18.1%) cases, MMC in one (9%) case, and duodenal atresia in one (9%) case. Conclusion Contrary to the common belief that advanced maternal age of greater than 35 years is a major cause, 86.6% of the congenital structural anomalies in our hospital-based study in Uttarakhand occurred in babies of mothers belonging to the age group of 18-30 years. Also, consanguineous marriage was observed in only 3.3% of cases, indicating that it may not be a major contributing factor causing congenital structural malformations in our region. External congenital anomalies are most commonly observed (60.7%), with cleft lip and cleft palate being the most common. The most frequently observed internal congenital anomaly is CHD (22%) followed by gastrointestinal (GI) (18.6%) and urinary anomalies (10.1%). Death and referral are commonly seen in CHD.
PubMed: 38883135
DOI: 10.7759/cureus.60375 -
World Journal of Clinical Cases Nov 2023Female anorectal malformation is a correctable congenital defect. Delayed manifestations in patients with anal deformities are uncommon, especially after adolescence.
BACKGROUND
Female anorectal malformation is a correctable congenital defect. Delayed manifestations in patients with anal deformities are uncommon, especially after adolescence.
CASE SUMMARY
The clinical data of a 19-year-old adult female patient with congenital anal atresia accompanied by rectovestibular fistula as the main manifestation was retrospectively analyzed. Diagnosis was made based on the patient's clinical symptoms, signs, imaging showing the fistula, X-ray and magnetic resonance imaging results. The preoperative examination was improved. Anorectoplasty was performed. The patient exhibited an improvement in quality of life and presented no evidence of fecal incontinence during the 6-mo follow-up.
CONCLUSION
Transfistula anorectoplasty is a reasonable and reliable surgical method for the treatment of adult congenital anal atresia and rectovestibular fistula.
PubMed: 38075572
DOI: 10.12998/wjcc.v11.i33.8065 -
BMC Pediatrics Mar 2024Anorectal malformations (ARMs) are the most common congenital anomaly of the digestive tract. And colostomy should be performed as the first-stage procedure in neonates...
BACKGROUND
Anorectal malformations (ARMs) are the most common congenital anomaly of the digestive tract. And colostomy should be performed as the first-stage procedure in neonates diagnosed with intermediate- or high-type ARMs. However, the most classic Pe˜na's colostomy still has some disadvantages such as complicated operation procedure, susceptibility to infection, a greater possibility of postoperative incision dehiscence, difficulty of nursing and large surgical trauma and incision scarring when closing the stoma. We aimed to explore the effectiveness of middle descending colon-double lumen ostomy (MDCDLO) in the treatment of high and intermediate types of anorectal malformations.
METHODS
We retrospectively reviewed the data of patients who underwent MDCDLO for high or intermediate types of ARMs between June 2016 and December 2021 in our hospital. The basic characteristics were recorded. All patients were followed up monthly to determine if any complication happen.
RESULTS
There were 17 boys and 6 girls diagnosed with high or intermediate types of ARMs in our hospital between June 2016 and December 2021. All 23 patients were cured without complications such as abdominal incision infection, stoma stenosis, incisional hernia, and urinary tract infection in the postoperative follow-up time of 6 months to 6 years except one case of proximal intestinal prolapse was restored under anesthesia.
CONCLUSION
MDCDLO offers the advantages of simplicity, efficiency, safety, mild trauma, and small scarring in the treatment of high and intermediate types of anorectal malformations.
Topics: Infant, Newborn; Male; Female; Humans; Anorectal Malformations; Retrospective Studies; Cicatrix; Colon, Descending; Colostomy
PubMed: 38521911
DOI: 10.1186/s12887-024-04695-1 -
International Journal of Surgery Case... Mar 2024Oesophageal atresia, duodenal atresia, and anorectal malformations are rare. This report describes a case of an infant with these three conditions treated using a...
INTRODUCTION
Oesophageal atresia, duodenal atresia, and anorectal malformations are rare. This report describes a case of an infant with these three conditions treated using a multi-stage surgical procedure.
PRESENTATION OF CASE
A male infant was delivered via caesarean section at 34 weeks and 4 days of gestation, weighing 1709 g. Radiography at birth showed a coil-up of the gastrointestinal tube in the oesophagus, a double bubble sign; the patient was subsequently diagnosed with gross type C oesophageal atresia with duodenal atresia. A gastrostomy was performed at day 0. Oesophago-oesophageal anastomosis was performed after tracheoesophageal fistula and blind-end dissection. A duodeno-duodenal diamond-shaped anastomosis was performed, and a tube enterostomy was created from the gastric area near gastrostomy as a trans-anastomotic feeding tube. A colostomy was performed in the descending colon owing to a non-rotation-type anomaly of intestinal malrotation. After other multi-stage surgeries and weight gain, posterior sagittal anorectoplasty was performed at age 1 year 2 months.
DISCUSSION
Triple atresia (TA), characterized by triumvirate oesophageal atresia, duodenal atresia, and anorectal malformations, remains a clinical puzzle. Notably, standardized therapeutic guidelines for managing TA are lacking. The complexity of this constellation of anomalies necessitates astute diagnostic acumen and strategic treatment planning.
CONCLUSION
Our patient showed a favourable clinical course with an accurate and timely diagnosis, serving as an experience for an innovative multi-stage therapeutic strategy. Our case showed the appropriate challenges of TA while illuminating the potential for successful outcomes through meticulous clinical management.
PubMed: 38310785
DOI: 10.1016/j.ijscr.2024.109340 -
Case Reports in Pediatrics 2023Anorectal malformations (ARM) without a fistula are a rare congenital condition. Although may seem more simple to repair compared with ARM with fistulas, surgery has...
Anorectal malformations (ARM) without a fistula are a rare congenital condition. Although may seem more simple to repair compared with ARM with fistulas, surgery has proved to be challenging. We report the case of a newborn who presented a well-formed anus and normal genitalia; a blind-ending anal canal was detected after the insertion of a rectal probe, thus allowing the diagnosis of ARM. Anal probing straight after birth avoids the possible complications related to intestinal obstruction due to a missed diagnosis of ARM. Examination of the perineal region is an important step in the evaluation of the newborn and represents the tool for a prompt identification of ARM. Adding anal probing to accurate inspection perineum is a good clinical practice and should always be performed even in presence of a normal-looking perineum.
PubMed: 37942057
DOI: 10.1155/2023/3669723 -
Journal of Pediatric and Adolescent... Feb 2024In girls born with an anorectal malformation (ARM), anatomical gynecological anomalies (GA) may be present and might need treatment. Therefore, the aim of this study was...
STUDY OBJECTIVE
In girls born with an anorectal malformation (ARM), anatomical gynecological anomalies (GA) may be present and might need treatment. Therefore, the aim of this study was to provide an overview of GA in girls born with ARM in our cohort. Additionally, diagnostic timing and methods for GA were assessed.
METHODS
A retrospective mono-center study was performed from January 2000 to December 2022. All patients assigned female at birth were eligible for inclusion. GA were classified according to ESHRE/ESGE classification. Outcomes were the number of girls with GA with subsequent screening methods, factors associated with GA, and GA requiring treatment. Uni- and multivariable logistic regression analyses were performed to identify the association between baseline characteristics and the presence of GA.
RESULTS
In total, 128 girls were included, of whom 30 (24.1%) had additional GA, with vaginal anomalies being present most often (n = 17). Fifty-six patients (43.8%) underwent full screening, and this number improved over time (37.7% before 2018 vs 72.7% after 2018; P = .003). Thirteen of 30 patients (43.3%) required surgical treatment for their GA, without the occurrence of postoperative complications.
CONCLUSION
Additional GA were present in almost a quarter of the girls born with an ARM, with vaginal anomalies most often identified. Despite GA being most often found in patients with cloacal malformations, these anomalies were also identified in patients with other ARM types. Surgical treatment was required in almost half of the girls with GA. Therefore, this study emphasizes the importance of screening for GA in patients with an ARM, regardless of the ARM type.
Topics: Infant, Newborn; Animals; Humans; Female; Anorectal Malformations; Retrospective Studies; Postoperative Complications; Cloaca
PubMed: 37777168
DOI: 10.1016/j.jpag.2023.09.007 -
Clinical Case Reports Jul 2024Polymelia (supernumerary limbs) is an extremely rare congenital condition in humans. Because congenital anorectal malformation is a relatively common complication of...
Polymelia (supernumerary limbs) is an extremely rare congenital condition in humans. Because congenital anorectal malformation is a relatively common complication of polymelia and it may require emergency surgery as in the present case, accompanying malformations must be investigated.
PubMed: 38919885
DOI: 10.1002/ccr3.9119 -
Pediatric Surgery International Feb 2024The purpose of surgeries performed for congenital anomalies in children is to increase the survival rates and provide a developmental comparison to that of their peers.
BACKGROUND
The purpose of surgeries performed for congenital anomalies in children is to increase the survival rates and provide a developmental comparison to that of their peers.
AIM
The objective of this study was to investigate the development of children following surgery for congenital anomalies and the risk factors affecting their development.
METHODS
Our study included 33 children who underwent surgery for gastrointestinal anomalies in our clinic between 2011 and 2016, and did not have any syndrome, chromosomal abnormality, or additional abnormality. Developmental levels were evaluated using the Ages and Stages Questionnaire (ASQ) and the ASQ: Social-Emotional (ASQ: SE) scales adapted for the use on Turkish children. Data on patient history were obtained retrospectively from patient files.
RESULTS
The study included 33 patients, including 11 with esophageal atresia, 6 with intestinal atresia, 11 with anorectal malformation, and 5 with Hirschsprung's disease. Developmental delay was found in the ASQ of 72.7% of the patients and the ASQ: SE tool was 27% of the patients. The rate of patients with scores below the threshold from each parameter of ASQ was higher than that of the normal population (p < 0.05). Development delay was detected using the ASQ scale in 100% of those with microcephaly at birth, in 91% of premature infants born between 1500 and 2500 g, and in 83.3% of those with low birth weight to gestational age.
CONCLUSIONS
In children who underwent surgery due to congenital anomalies, an evaluation through developmental tests, a post-surgical follow-up process, and a referral to the relevant disciplines when necessary may increase the success of surgery as well as increase the life quality of the patient.
Topics: Infant, Newborn; Child; Infant; Humans; Retrospective Studies; Esophageal Atresia; Hirschsprung Disease; Anorectal Malformations; Ambulatory Care Facilities
PubMed: 38300305
DOI: 10.1007/s00383-023-05625-5 -
Journal of Pediatric Surgery Oct 2023Transition zone pull-through (TZPT) is incomplete removal of the aganglionic bowel/transition zone (TZ) in patients with Hirschsprung disease (HD). Evidence on which...
INTRODUCTION
Transition zone pull-through (TZPT) is incomplete removal of the aganglionic bowel/transition zone (TZ) in patients with Hirschsprung disease (HD). Evidence on which treatment generates the best long-term outcomes is lacking. The aim of this study was to compare the long-term occurrence of Hirschsprung associated enterocolitis (HAEC), requirement of interventions, functional outcomes and quality of life between patients with TZPT treated conservatively to patients with TZPT treated with redo surgery to non-TZPT patients.
METHODS
We retrospectively studied patients with TZPT operated between 2000 and 2021. TZPT patients were matched to two control patients with complete removal of the aganglionic/hypoganglionic bowel. Functional outcomes and quality of life was assessed using Hirschsprung/Anorectal Malformation Quality of Life questionnaire and items of Groningen Defecation & Continence together with occurrence of Hirschsprung associated enterocolitis (HAEC) and requirement of interventions. Scores between the groups were compared using One-Way ANOVA. The follow-up duration lasted from time at operation until follow-up.
RESULTS
Fifteen TZPT-patients (six treated conservatively, nine receiving redo surgery) were matched with 30 control-patients. Median duration of follow-up was 76 months (range 12-260). No significant differences between groups were found in the occurrence of HAEC (p = 0.65), laxatives use (p = 0.33), rectal irrigation use (p = 0.11), botulinum toxin injections (p = 0.06), functional outcomes (p = 0.67) and quality of life (p = 0.63).
CONCLUSION
Our findings suggest that there are no differences in the long-term occurrence of HAEC, requirement of interventions, functional outcomes and quality of life between patients with TZPT treated conservatively or with redo surgery and non-TZPT patients. Therefore, we suggest to consider conservative treatment in case of TZPT.
Topics: Humans; Infant; Hirschsprung Disease; Retrospective Studies; Quality of Life; Enterocolitis; Administration, Rectal; Postoperative Complications
PubMed: 36941171
DOI: 10.1016/j.jpedsurg.2023.02.043 -
Behavioral Sciences (Basel, Switzerland) Apr 2024Postoperative anal dilations (PAD) are the standard of care for patients after a posterior sagittal anorectoplasty (PSARP) for anorectal malformation (ARM) or a...
BACKGROUND
Postoperative anal dilations (PAD) are the standard of care for patients after a posterior sagittal anorectoplasty (PSARP) for anorectal malformation (ARM) or a transanal pull-through (TP) procedure for Hirschsprung disease (HD). This study assessed the psychosocial impact of PAD among caregivers of children with ARM or HD, which may inform postoperative care strategies.
METHODS
Caregivers of patients with ARM and HD who underwent PSARP or TP within five years participated in the online survey. Questions included demographics, patient and caregiver experiences with PAD, and baseline psychosocial functioning. Quantitative results were reported descriptively, while qualitative responses were summarized as major themes.
RESULTS
The survey indicated a response rate of 26% caregivers, with most being female (91%) and biological mothers (85%). Patients were mostly male (65%), born with ARM (74%), and were five months old on average when PAD began. Caregivers reported that during PAD, children experienced distress (56%), pain (44%), and fear (41%), while a third noted no negative reactions. Over time, their child's ability to cope with PAD got easier (38%) or stayed the same (41%). Caregivers reported worry/anxiety (88%), guilt (71%), stress (62%), and frustration (35%), noting that additional coping strategies to manage the emotional and logistical challenges of daily PAD would be helpful.
CONCLUSION
Although PAD is necessary, it can be highly stressful for the patients and their caregivers. Key findings emphasized the need for additional coping strategies and highlighted the importance of integrating psychosocial support into the postoperative care regimen.
PubMed: 38785870
DOI: 10.3390/bs14050379