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Journal of Indian Association of... 2023Anorectal malformations (ARMs) are common congenital anomalies in neonates. Colonic perforation is very rare in ARMs. Delay in diagnosis of neonate with ARM results in...
Anorectal malformations (ARMs) are common congenital anomalies in neonates. Colonic perforation is very rare in ARMs. Delay in diagnosis of neonate with ARM results in colonic perforations and life-threatening morbidity. Colonic perforation due to ARM may not be completely avoided; however, early diagnosis and management are essential in assuring better outcomes.
PubMed: 37635885
DOI: 10.4103/jiaps.jiaps_36_23 -
African Journal of Paediatric Surgery :... Jan 2024Penile agenesis is complete absence of the penis in an otherwise normal phenotypic and genotypic male at birth that results from failure of development of the genital... (Review)
Review
Penile agenesis is complete absence of the penis in an otherwise normal phenotypic and genotypic male at birth that results from failure of development of the genital tubercle. It is an extremely rare anomaly that may be associated with anomalies in other organ systems, the extent and severity of which may affect the prognosis. The management is challenging and may have far reaching implications for the individual and family. While gender reassignment with bilateral orchidectomy and feminising genitoplasty has been carried out for most patients, significant psychosexual and social issues related to the male identity may occur due to foetal or postnatal sex steroid imprinting. We report a neonate with penile agenesis with bilateral renal agenesis and anorectal malformation.
Topics: Infant, Newborn; Humans; Male; Anorectal Malformations; Kidney Diseases; Genotype; Genitalia; Congenital Abnormalities; Kidney
PubMed: 38259027
DOI: 10.4103/ajps.ajps_81_22 -
Journal of Pediatric Surgery Sep 2023In children with anorectal malformations (ARM), additional anomalies can occur within the VACTERL-association. Routine screening is of great importance for early...
BACKGROUND
In children with anorectal malformations (ARM), additional anomalies can occur within the VACTERL-association. Routine screening is of great importance for early identification and potential treatment. However, uniformity in screening protocols is lacking and only small cohorts have been described in literature. The aim of this study was to assess and describe a unique large cohort of ARM patients who underwent VACTERL screening in the neonatal period.
METHODS
A retrospective mono-center cohort study was performed. Included were all neonates born between January 2000 and December 2020 who were diagnosed with ARM and screened for additional anomalies. Full screening consisted of x-ray and ultrasound of the spine, cardiac and renal ultrasound, and physical examination for limb deformities, esophageal atresia, and ARM. Criteria for VACTERL-classification were predefined according to the EUROCAT-definitions.
RESULTS
In total, 216 patients were included, of whom 167 (77.3%) underwent full VACTERL-screening (66% in 2000-2006 vs. 82% in 2007-2013 vs. 86% in 2014-2020). Median age at follow-up was 7.0 years (IQR 3.0-12.8). In 103/167 patients (61.7%), additional anomalies were identified. Some 35/216 patients (16.2%) fulfilled the criteria of a form of VACTERL-association. In 37/216 patients (17.1%), a genetic cause or syndrome was found.
CONCLUSIONS
The majority of ARM patients underwent full screening to detect additional anomalies (77%), which improved over time to 86%. Yet, approximately a quarter of patients was not screened, with the potential of missing important additional anomalies that might have severe consequences in the future. Forms of VACTERL-association or genetic causes were found in 16% and 17% respectively. This study emphasizes the importance of routine screening.
LEVEL OF EVIDENCE
III.
Topics: Infant, Newborn; Child; Humans; Child, Preschool; Anorectal Malformations; Retrospective Studies; Cohort Studies; Esophagus; Trachea; Limb Deformities, Congenital; Heart Defects, Congenital; Kidney; Anal Canal; Spine
PubMed: 36586784
DOI: 10.1016/j.jpedsurg.2022.11.010 -
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 -
Journal of Indian Association of... 2023Urethral duplication is a rare anomaly with varying clinical manifestations. About 300 cases have been reported till date and are often associated with genitourinary...
Urethral duplication is a rare anomaly with varying clinical manifestations. About 300 cases have been reported till date and are often associated with genitourinary (GU) and gastrointestinal (GI) tract anomalies. A 6-day-old neonate presented with an absent anal opening and a tiny perineal fistula having slight meconium staining. He did well after anoplasty. Low anorectal malformation (ARM) has been reported as the GI anomaly associated with urethral duplication. However, an ectopic scrotum as the principal GU tract anomaly associated with urethral duplication is being reported for the first time in literature with probable embryologic explanation. The GU tract anomalies were successfully repaired surgically later in infancy.
PubMed: 37635880
DOI: 10.4103/jiaps.jiaps_8_23 -
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 -
African Journal of Paediatric Surgery :... Jan 2024Transanal endorectal pull-through (TERPT) has become one of the preferred treatments for Hirschsprung's disease (HD) in our setting. This report aims to evaluate the...
BACKGROUND
Transanal endorectal pull-through (TERPT) has become one of the preferred treatments for Hirschsprung's disease (HD) in our setting. This report aims to evaluate the current outcome of TERPT in the setting.
MATERIALS AND METHODS
A retrospective review of 71 children who had TERPT for histologically-confirmed HD in 11 years (2006-2017) in Nigeria.
RESULTS
There were 48 boys and 23 girls; aged 3 days-12 years at initial presentation (median = 10 months). Three (4.2%) patients had associated anomalies (duodenal atresia; anorectal malformation and sensorineural deafness with hypopigmented skin patches each). Age at TERPT was 2 months to 15 years (median = 3 years), with surgery waiting time of 1 month-14.9 years (median = 18 months). Sixty-six (93.0%) patients had rectosigmoid, four (5.6%) patients had long segment and one (1.4%) had total colonic disease. Five (7.0%) patients with large megacolon and one (1.4%) with the total colonic disease had assisted abdominal resection of the colon at TERPT. Seventeen (23.9%) patients had post-operative complications, including post-operative enterocolitis 8 (11.3%); anastomotic dehiscence 3 (4.2%); retained aganglionic segment 2 (2.8%); anastomotic stenosis 2 (2.8%), resulting in prolonged hospital stay (P = 0.0001; range = 1-30 days; median = 5 days). The mortality rate was 4.2% (3) from malignant hyperthermia in one patient and in 2 patients, the cause of mortality was unclear. Patients were followed up for 3-6 years (median = 3.5 years). Bowel movement stabilised to 2-4 times daily by 6 weeks after surgery.
CONCLUSION
TERPT is a safe treatment for HD in this setting with good short-term outcomes. Longer follow-up is necessary to further evaluate the long-term bowel movement outcomes.!
Topics: Male; Child; Female; Humans; Hirschsprung Disease; Colonic Diseases; Anastomosis, Surgical; Anorectal Malformations
PubMed: 38259012
DOI: 10.4103/ajps.ajps_93_22 -
Children (Basel, Switzerland) May 2024The treatment of patients with colorectal disorders requires care from a wide variety of medical and surgical specialties over the course of their lifetime. This is... (Review)
Review
The treatment of patients with colorectal disorders requires care from a wide variety of medical and surgical specialties over the course of their lifetime. This is ideally handled by a collaborative center which facilitates the assessment and development of patient care among multiple specialties which can enhance the quality and implementation of treatment plans, improve communication among different specialties, decrease morbidity, and improve patient satisfaction and outcomes. This collaborative approach can serve as a model for other parts of medicine requiring a similar multi-disciplinary and integrated method of care delivery. We describe the process, as well as the lessons learned in developing such a program.
PubMed: 38790565
DOI: 10.3390/children11050570 -
Pediatric Surgery International Oct 2023First, to assess the number of patients with anorectal malformations (ARM) in whom additional urological and/or gynecological anomalies were identified through routine...
PURPOSE
First, to assess the number of patients with anorectal malformations (ARM) in whom additional urological and/or gynecological anomalies were identified through routine screening with cysto- or vaginoscopy prior to reconstructive surgery. Second, to assess potential procedure-related complications.
METHODS
Retrospective mono-center cohort study, including all ARM patients born between January 2019 and December 2022. Routine screening consisted of cystoscopy for male patients, with the addition of vaginoscopy for female patients. Chi-square was used to compare the screening percentages over time.
RESULTS
In total, 38 patients were included, of whom 27 (71.1%) underwent cystoscopy ± vaginoscopy, without the occurrence of complications. Nine of 13 females (69.2%) underwent cysto- and vaginoscopy and 18 of 25 males (72.0%) underwent a cystoscopy. The percentage of patients that underwent these procedures improved over the 2 time periods (50.0% in 2019-2020 vs 90.0% in 2021-2022, p = 0.011). In 15 of 27 patients (55.6%) that underwent cystoscopy ± vaginoscopy, additional anomalies were found that were not identified through physical examination or US-kidney.
CONCLUSIONS
In 56% of the patients that underwent cysto- ± vaginoscopy, additional anomalies were identified that were not with imaging studies or physical examination. This study emphasizes the potential benefit of routine cysto- and vaginoscopy in the diagnostic work-up of children with ARM.
LEVEL OF EVIDENCE
III.
Topics: Child; Humans; Male; Female; Cystoscopy; Anorectal Malformations; Retrospective Studies; Cohort Studies; Surgery, Plastic; Anal Canal
PubMed: 37889354
DOI: 10.1007/s00383-023-05565-0 -
Cureus Oct 2023Anorectal malformations (ARMs) comprise a broad spectrum of congenital anomalies involving both anorectal and urogenital tracts. After diagnosis, urological problems...
Anorectal malformations (ARMs) comprise a broad spectrum of congenital anomalies involving both anorectal and urogenital tracts. After diagnosis, urological problems should be evaluated in addition to surgical correction of ARMs. Commonly encountered urological problems in patients with ARMs are recurrent urinary tract infections, vesicoureteral reflux, and chronic kidney disease. Therefore, the proper timing of urination and appropriate defecation habits are essential for preserving renal function in patients with ARMs. Here, we report a case of acute hydronephrosis by severe stool impaction in a patient with a history of congenital ARMs and neurogenic bladder. In this case, the physicians should consider properly managing chronic constipation and urination in patients with ARMs despite successful surgical corrections.
PubMed: 37965387
DOI: 10.7759/cureus.47036