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Frontiers in Medicine 2023Intussusception refers to the invagination of a proximal loop of the bowel into an adjacent distal segment. This condition is rare in adults, especially when it involves...
Intussusception refers to the invagination of a proximal loop of the bowel into an adjacent distal segment. This condition is rare in adults, especially when it involves a complete folding of the ileocecal area out of the body cavity. Meanwhile, enterogenous cysts are congenital malformations that are largely identified in childhood following symptoms of bowel obstruction. While surgical treatment is ultimately required for both diseases, deciding on the type of surgery and the right time to operate can be a challenge for clinicians. It is especially difficult to decide on treatment for an adult with the coincidental occurrence of both conditions and no definitive pathologic diagnosis prior to surgery. Here, we present the case study of a 19-year-old female patient who presented with a prolapsed anus due to intussusception caused by a large ileocecal mass. The patient was admitted to the emergency department with a "massive anal mass." She remained symptomatic after receiving conventional conservative treatment and had to undergo emergency surgery after developing an intestinal obstruction. While the patient's intraoperative condition also confirmed the preoperative CT findings, the situation became more complicated during surgery. The postoperative pathological report indicated the presence of an enterogenous cyst. After recovery from surgery, the patient was successfully discharged. Intussusception or intestinal obstruction caused by an intestinal mass is a surgical indication, and removal is the only way to cure the condition. This case study provides a helpful reference for general surgeons, especially anorectal surgeons, imaging physicians, and pathologists, and informs the diagnosis and treatment of this patient population.
PubMed: 38249983
DOI: 10.3389/fmed.2023.1324792 -
BMC Pediatrics Jan 2024To analyze the clinical characteristics and types of congenital heart defect (CHD) in mild congenital anorectal malformation (CARM), namely the rectoperineal and...
OBJECTIVE
To analyze the clinical characteristics and types of congenital heart defect (CHD) in mild congenital anorectal malformation (CARM), namely the rectoperineal and rectovestibular fistulas.
METHODS
The retrospective study of 183 patients with mild CARM was conducted with assessments of demographic information, color Doppler echocardiography results, and follow-up data. We performed an analysis of the clinical characteristics of CHD, grouping them based on sex and type of mild CARM.
RESULTS
Of the 183 patients, rectoperineal fistula occurred in 133 patients (72.7%), while the frequency of CHD was 79.8% (146/183). Ventricular septal defects (VSDs) occur more frequently in patients with rectoperineal fistula compared to those with rectovestibular fistula (1.5% vs. 10%), while the opposite trend was observed for patent ductus arteriosus (PDAs) (39.8% vs. 22.0%). Additionally, males presented higher frequency of PDA (42.7% vs. 26.4%) and self-healing (6 months: 87.2% vs. 42.6%; 12 months: 91.0% vs. 63.2%) than females. However, males had a lower rate of undergoing cardiac surgery (6.4% vs. 17.6%) and a younger median diagnosis age (1 day vs. 9 days).
CONCLUSION
Our study indicates that there is a necessity for meticulous cardiac assessment and follow-up in neonates diagnosed with mild CARM.
Topics: Infant, Newborn; Male; Female; Humans; Anorectal Malformations; Retrospective Studies; Heart Defects, Congenital; Ductus Arteriosus, Patent; Fistula
PubMed: 38245711
DOI: 10.1186/s12887-023-04518-9 -
Cureus Dec 2023The present study aimed to review the treatment experience and outcomes of Currarino syndrome (CS) complicated with anorectal stenosis to evaluate the current treatment...
PURPOSE
The present study aimed to review the treatment experience and outcomes of Currarino syndrome (CS) complicated with anorectal stenosis to evaluate the current treatment strategies.
METHODS
Seven cases of CS complicated with anorectal stenosis, treated at our hospital between 1998 and 2021, were retrospectively investigated. This is a case series article from a single institution.
RESULTS
In six and three cases and one case, the presacral mass was a mature teratoma, meningocele, and lipoma, respectively. Resection of the lesion was performed in all six cases of mature teratoma, and duraplasty was performed before resection in all three cases of meningocele. Moreover, surgery for anorectal stenosis was performed simultaneously in four patients. Surgery was performed for six cases of anorectal stenosis, with the remaining case relieved by dilation using a metal bougie. The surgical methods used were a partial resection with end-to-end anastomosis, anorectal strictureplasty, pull-through, posterior sagittal anorectoplasty, and cutback after mass resection. Pathological analysis of the anorectal stenoses revealed disorganized and rough smooth muscle fibers and the replacement of the stroma by an increased quantity of collagen fibers.
CONCLUSIONS
The clinical outcomes of CS can be improved by establishing a treatment flow chart and understanding the complicated pathophysiology of the disease.
PubMed: 38226073
DOI: 10.7759/cureus.50512 -
Taiwanese Journal of Obstetrics &... Jan 2024Fetal megacystis has been reported to be associated with chromosomal abnormalities, megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), obstructive... (Review)
Review
Fetal megacystis has been reported to be associated with chromosomal abnormalities, megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), obstructive uropathy, prune belly syndrome, cloacal anomalies, limb-body wall complex, amniotic band syndrome, anorectal malformations, VACTERL association (vertebral anomalies, anal atresia, cardiac malformations, tracheo-esophageal fistula, renal anomalies and limb abnormalities) and fetal overgrowth syndrome such as Bechwith-Wiedemann syndrome and Sotos syndrome. This review provides an overview of syndromic and single gene disorders associated with fetal megacystis which is useful for genetic counseling at prenatal diagnosis of fetal megacystis.
Topics: Pregnancy; Infant, Newborn; Female; Humans; Diabetes, Gestational; Fetal Macrosomia; Abnormalities, Multiple; Colon; Fetal Diseases; Urinary Bladder; Intestinal Pseudo-Obstruction; Duodenum
PubMed: 38216263
DOI: 10.1016/j.tjog.2023.11.007 -
Taiwanese Journal of Obstetrics &... Jan 2024Fetal megacystis has been reported to be associated with chromosomal abnormalities, megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), obstructive... (Review)
Review
Fetal megacystis has been reported to be associated with chromosomal abnormalities, megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), obstructive uropathy, prune belly syndrome, cloacal anomalies, limb-body wall complex, amniotic band syndrome, anorectal malformations, VACTERL association (vertebral anomalies, anal atresia, cardiac malformations, tracheo-esophageal fistula, renal anomalies and limb abnormalities) and fetal overgrowth syndrome such as Bechwith-Wiedemann syndrome and Sotos syndrome. This review provides an overview of chromosomal abnormalities associated with fetal megacystis which is useful for genetic counseling and fetal therapy at prenatal diagnosis of fetal megacystis.
Topics: Pregnancy; Infant, Newborn; Female; Humans; Diabetes, Gestational; Fetal Macrosomia; Abnormalities, Multiple; Chromosome Aberrations; Urinary Bladder; Duodenum; Fetal Diseases
PubMed: 38216262
DOI: 10.1016/j.tjog.2023.11.006 -
Cirugia Pediatrica : Organo Oficial de... Jan 2024There are multiple tools available to optimize defecation in patients with anorectal malformation (ARM), such as habits, laxatives, and retrograde or anterograde...
INTRODUCTION
There are multiple tools available to optimize defecation in patients with anorectal malformation (ARM), such as habits, laxatives, and retrograde or anterograde irrigations, which are usually adapted in a progressive and combined fashion. The objective of this study was to assess the incorporation of transanal irrigation (TAI) to constipation and fecal incontinence treatment in patients with ARM.
MATERIALS AND METHODS
A retrospective study of ARM patients with indication of TAI according to the colorectal pathology unit's intestinal management protocol from 2015 to 2022 was carried out. Following use for over 3 months, patients or their guardians completed a phone survey of our own approved by the ethics committee.
RESULTS
39 ARM patients participated in the study. Pathologies included 11 rectourethral fistulas, 6 rectovesical fistulas, 16 cloacae, 2 rectovaginal fistulas, 2 perineal fistulas, and 2 vestibular fistulas. 44% of them had a sacral index < 0.4. 62% had constipation, and 38% had incontinence. Thanks to TAI, confidence and safety improved in a very high and a high degree in 89% of the patients, whereas time devoted to intestinal management decreased a lot in 68% of them. 79% reported a 9- and 10-point quality-of-life improvement. 92% rated overall satisfaction with TAI with a score of 8, 9, and 10 - 10 meaning "completely satisfied." 100% recommend TAI.
CONCLUSION
TAI is a good alternative for the intestinal management of fecal incontinence and constipation.
Topics: Female; Humans; Anorectal Malformations; Fecal Incontinence; Retrospective Studies; Gastrointestinal Diseases; Constipation; Rectovaginal Fistula
PubMed: 38180097
DOI: 10.54847/cp.2024.01.12 -
Pediatrics and Neonatology Dec 2023Congenital heart diseases (CHD) are the most frequently associated anomalies with anorectal malformations (ARM). Nevertheless, many specific aspects of CHD in ARM...
OBJECTIVE
Congenital heart diseases (CHD) are the most frequently associated anomalies with anorectal malformations (ARM). Nevertheless, many specific aspects of CHD in ARM patients have yet to be studied. The aims of this study were to evaluate the prevalence and distribution of CHD in neonates-infants with ARM, and to explore whether the severity of ARM, and the presence of VACTERL association, had an impact on CHD rate, severity, and timing at first cardiac surgery.
STUDY DESIGN
All consecutive newborn-infants with ARM managed in our tertiary center (January-1999; December-2021) were collected from a prospective database and retrospectively analyzed. Prevalence and distribution of CHD in ARM patients were assessed. Patients were divided into groups depending on ARM severity and presence of VACTERL association. Pairwise comparison for CHD prevalence, severity, and timing at first cardiac surgery was performed between groups.
RESULTS
Of 396 ARM patients identified, those with severe ARM showed a higher number of overall CHD compared to patients with non-severe ARM (36.7 % vs. 25.2 %, p = 0.032). VACTERL + patients had a significantly higher prevalence of CHD (73.4 % vs. 16.4 %; p <0.001) and major CHD (51.7 % vs. 26.9 %; p = 0.008) when compared with VACTERL-patients. Furthermore, VACTERL + patients underwent first cardiac surgery at a significantly younger age than VACTERL-patients (5.2 ± 15.2 months vs. 11.9 ± 6.3, p = 0.039).
CONCLUSIONS
Patients with severe ARM had a higher number of CHD compared to patients with non-severe ARM. VATERL + patients had significantly more CHD and more severe CHD than VACTERL-patients. Early screening for CHD is strongly recommended in all newborns diagnosed with ARM before surgery.
LEVEL OF EVIDENCE
III retrospective comparative study.
PubMed: 38163746
DOI: 10.1016/j.pedneo.2023.08.011 -
Cureus Nov 2023Congenital recto-urethral fistula is the most common form of anorectal malformation found in boys. The final repair includes the ligation of the fistula and the...
Congenital recto-urethral fistula is the most common form of anorectal malformation found in boys. The final repair includes the ligation of the fistula and the anorectoplasty, and can be achieved either way: posterior sagitally or laparoscopically. We present a case of a term male infant diagnosed with anorectal malformation and recto-prostatic urethral fistula, that underwent a laparoscopic-assisted posterior sagittal anorectoplasty in our department.
PubMed: 38111460
DOI: 10.7759/cureus.49008 -
Cureus Nov 2023To the best of our knowledge, this is the first reported case of a recurrent presacral tumor in Currarino syndrome. Currarino syndrome is a rare disease usually found in...
To the best of our knowledge, this is the first reported case of a recurrent presacral tumor in Currarino syndrome. Currarino syndrome is a rare disease usually found in childhood with a triad of sacral agenesis, anorectal malformation, and presacral tumor. However, it can often remain undiscovered until adulthood. Currarino syndrome is generally diagnosed during childhood in the setting of recurrent meningitis and is often suspected when there is a family history. Occasionally, it is diagnosed in adulthood through incidental imaging or due to investigations for back pain and chronic constipation. MRI is the recommended imaging modality in this disease process, as it can better help differentiate soft tissue. The tumor can be resected through either the transabdominal approach or the posterior approach (Kraske procedure). We present a 52-year-old female patient who was diagnosed with Currarino syndrome when she was one year old due to recurrent meningitis and surgical resection of a presacral mass and was asymptomatic until she developed back pain and constipation. Her symptoms were investigated with an MRI, revealing a recurrence of a presacral tumor, and she subsequently underwent a Kraske procedure. The patient is currently under annual surveillance, and the residual tumor has remained stable. There are currently no surveillance guidelines after resection of a presacral tumor in Currarino Syndrome. However, follow-up surveillance should be considered.
PubMed: 38098935
DOI: 10.7759/cureus.48780 -
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