RESUMEN
Rectal prolapse is a common disease in childhood and observed mainly at the age of 1-4 years old (95% of cases). If conservative treatment is ineffective, surgical correction of rectal prolapse in children without previous anorectal surgery is performed at the age of over a year. There is a single report on examination of patients aged 4-16 years after surgical correction of anorectal malformations with postoperative rectal prolapse. We present diagnosis and successful surgical treatment of rectal prolapse in an infant who underwent previous perineal proctoplasty for fistulous form of anorectal malformation.
Asunto(s)
Prolapso Rectal , Recto , Humanos , Prolapso Rectal/cirugía , Prolapso Rectal/etiología , Prolapso Rectal/diagnóstico , Recto/cirugía , Recto/anomalías , Resultado del Tratamiento , Complicaciones Posoperatorias/etiología , Complicaciones Posoperatorias/cirugía , Complicaciones Posoperatorias/diagnóstico , Masculino , Malformaciones Anorrectales/cirugía , Malformaciones Anorrectales/diagnóstico , Femenino , Preescolar , Reoperación/métodosRESUMEN
ABSTRACT: Genitourinary prolapse in newborn females as an introital mass is an uncommon entity. The usual causative mechanisms are poor pelvic innervation, damage or pressure on pelvic musculature and ligaments etc. Different methods of reduction as treatment were proposed in the past. Apart from uncommon occurrence of genitourinary prolapse in newborns, its association with anorectal malformation is not reported in English literature after searching on PubMed and Google Scholar. We report three cases of genitourinary prolapse with anorectal malformation in newborn females where decompressing colostomy was curative for the condition reflecting increased intra-abdominal pressure as causative mechanism.
Asunto(s)
Malformaciones Anorrectales , Humanos , Femenino , Recién Nacido , Malformaciones Anorrectales/cirugía , Malformaciones Anorrectales/complicaciones , Malformaciones Anorrectales/diagnóstico , Prolapso de Órgano Pélvico/cirugía , Prolapso de Órgano Pélvico/diagnóstico , Prolapso de Órgano Pélvico/complicaciones , Anomalías Urogenitales/cirugía , Anomalías Urogenitales/complicaciones , Anomalías Urogenitales/diagnóstico , Colostomía , Ano Imperforado/cirugía , Ano Imperforado/diagnóstico , Ano Imperforado/complicacionesRESUMEN
PURPOSE: National data from the United Kingdom reported in 2016 have suggested that almost one quarter of babies with anorectal malformation (ARM) have a delay in diagnosis. The UK's Newborn Infant Physical Examination dictates a perineal examination should be performed within 72 h of birth. We sought to describe a tertiary single-centre experience of late presentation in the most recent 5 years. METHODS: A single-centre prospective registry of ARM patients (July 2018-March 2024) was analysed. Timing of presentation with anomaly was noted. Patients presenting > 72 h or having been discharged home were defined as a delayed diagnosis. Factors associated with delayed diagnosis were noted. RESULTS: Sixty patients were included, of whom nine (15%) were diagnosed after 72 h [range 4-279 days]. This represents a non-significant improvement compared to 39/174 (22%) late diagnosed cases in the BAPS-CASS cohort from 2016 to 17 (p = 0.188). Presenting symptoms of obstruction (i.e. distension, vomiting, megarectum) were more common in late diagnosed patients (4/9 (44%) vs. 1/51(2%); p = 0.001). Anomalies producing meconium on the perineum were more likely to be diagnosed late (8/32 (25%) vs 1/28 (4%); p = 0.029). Complications and changes to clinical management for these cases are presented. CONCLUSION: Although our regional rates of late diagnosis appear to be lower than previously reported national rates, there remains a significant number of infants who are diagnosed late especially those with visible perineal openings. These infants are more commonly symptomatic; entraining additional risks associated with an emergency presentation.
Asunto(s)
Malformaciones Anorrectales , Diagnóstico Tardío , Humanos , Diagnóstico Tardío/estadística & datos numéricos , Malformaciones Anorrectales/diagnóstico , Recién Nacido , Femenino , Masculino , Reino Unido , Estudios Prospectivos , Lactante , Sistema de RegistrosRESUMEN
BACKGROUND: Anorectal malformations (ARMs) are congenital anomalies of the anorectum and the genitourinary system that result in a broad spectrum of hindgut anomalies. Despite surgical correction patients continue to have late postoperative genitourinary and colorectal dysfunction that have significant impact on quality of life. AIM: This paper will review the current evidence and discuss the evaluation and management of postoperative patients with ARMs who present with persistent defecation disorder. METHODS: A literature search was conducted using PubMed/MEDLINE/EMBASE databases applying the following terms: ARMs, imperforate anus, constipation, faecal incontinence, neurogenic bowel, posterior sagittal anorectoplasty. RESULTS: Patients who present with postoperative defecation disorders require timely diagnostic and surgical evaluation for anatomic abnormalities prior to initiation of bowel management. Goals of management are to avoid constipation in young children, achieve faecal continence in early childhood and facilitate independence in older children and adolescents. Treatment options vary from high dose stimulant laxatives to high-volume retrograde and antegrade enemas that facilitate mechanical colonic emptying. CONCLUSIONS: Appropriate diagnostic work-up and implementation of treatment can decrease long-term morbidity and improve quality of life in postoperative patients with ARMs who presents with defecation disorders.
Asunto(s)
Malformaciones Anorrectales , Estreñimiento , Incontinencia Fecal , Calidad de Vida , Humanos , Malformaciones Anorrectales/cirugía , Malformaciones Anorrectales/terapia , Malformaciones Anorrectales/diagnóstico , Estreñimiento/terapia , Estreñimiento/etiología , Estreñimiento/diagnóstico , Incontinencia Fecal/terapia , Incontinencia Fecal/etiología , Complicaciones Posoperatorias , Ano Imperforado/cirugía , Ano Imperforado/diagnóstico , Laxativos/uso terapéutico , Niño , Canal Anal/anomalías , Canal Anal/cirugíaRESUMEN
Introduction: anorectal malformations (ARM) are among the most common congenital anomalies in pediatric surgery. Early detection and management of vestibular fistulas are crucial for optimal outcomes, capitalizing on the pliability of sphincter muscles and the preservation of somatosensory integration. This study aimed to assess the incidence, clinical presentation, and management outcomes of vestibular fistula ARM in a low-income hospital setting. Methods: a retrospective audit was conducted on female pediatric patients aged up to 12 years treated for vestibular fistula ARM from January 1, 2011, to June 30, 2016. Data were collected from medical records, and patients were categorized into one of three surgical management groups. Clinical assessments, preoperative procedures, and surgical interventions were meticulously documented. Results: among 656 neonates, the incidence of vestibular fistula ARM was 8.2%. Patients presented at various ages, with 69.4% being early presenters. Notably, 11.1% of cases presented after 30 weeks of age. Functional fistula, constipation, and bowel obstruction were common presenting symptoms. Associated anomalies were relatively low. The choice of surgical approach varied, with a predominant 3-stage at 68%. Complication development did not significantly differ between surgical groups (p-value 0.083). Immediate postoperative complications were minimal, but complications at definitive anoplasty varied among the surgical groups. Anal strictures and fistula recurrence were noted. At 12 months post-surgery, anal strictures persisted in 9 participants. Conclusion: this study highlights the challenges and outcomes associated with vestibular fistula ARM in a resource-constrained setting. The 3-stage approach, despite its historical preference, demonstrated suboptimal outcomes. A 2-stage procedure appears to offer a balanced alternative, particularly suitable for low-income healthcare systems. Further research and collaborative efforts are essential to refine the management of vestibular fistula ARM and improve patient outcomes.
Asunto(s)
Malformaciones Anorrectales , Complicaciones Posoperatorias , Humanos , Femenino , Estudios Retrospectivos , Malformaciones Anorrectales/cirugía , Malformaciones Anorrectales/diagnóstico , Niño , Lactante , Preescolar , Recién Nacido , Complicaciones Posoperatorias/epidemiología , Incidencia , Resultado del Tratamiento , Pobreza , Países en Desarrollo , Recurrencia , Fístula Rectal/cirugía , Fístula Rectal/epidemiologíaRESUMEN
Genital anomalies have been reported with VACTERL association but not considered a core feature. Acute and chronic complications stemming from unrecognized genital anomalies have been reported in adolescents and young adults with VACTERL association. We sought to determine the frequency and severity of genital anomalies in VACTERL patients and identify which core features were more frequently associated with genital anomalies. A retrospective chart review from January 2010 to October 2021 identified 211 patients with two or more core VACTERL features, 34% of whom had a genital anomaly. The majority of genital anomalies (83% of those in males and 90% in females) were classified as functionally significant (requiring surgical intervention or causing functional impairment). The frequency of genital anomalies in the VACTERL cohort was higher if anorectal malformations or renal anomalies were present in both males and females and if vertebral anomalies were present in females. Due to their functional significance, genital anomalies should be assessed in all patients with two or more core features of VACTERL association, especially in those with anorectal or renal anomalies. Most genital anomalies in males will be detected on physical examination but additional investigation is often needed to detect genital anomalies in females. The timing and type of investigation are subjects for future study.
Asunto(s)
Canal Anal , Esófago , Cardiopatías Congénitas , Riñón , Deformidades Congénitas de las Extremidades , Columna Vertebral , Tráquea , Humanos , Masculino , Femenino , Canal Anal/anomalías , Canal Anal/patología , Deformidades Congénitas de las Extremidades/patología , Deformidades Congénitas de las Extremidades/genética , Deformidades Congénitas de las Extremidades/diagnóstico , Deformidades Congénitas de las Extremidades/epidemiología , Esófago/anomalías , Esófago/patología , Columna Vertebral/anomalías , Columna Vertebral/patología , Tráquea/anomalías , Tráquea/patología , Adolescente , Cardiopatías Congénitas/patología , Cardiopatías Congénitas/epidemiología , Cardiopatías Congénitas/genética , Cardiopatías Congénitas/diagnóstico , Riñón/anomalías , Riñón/patología , Adulto , Estudios Retrospectivos , Niño , Adulto Joven , Preescolar , Anomalías Urogenitales/epidemiología , Anomalías Urogenitales/genética , Anomalías Urogenitales/diagnóstico , Anomalías Urogenitales/patología , Lactante , Malformaciones Anorrectales/epidemiología , Malformaciones Anorrectales/genética , Malformaciones Anorrectales/diagnóstico , Malformaciones Anorrectales/patología , Genitales/anomalías , Genitales/patologíaRESUMEN
BACKGROUND: This study describes the presentation and initial management of anorectal malformation (ARM); evaluating the frequency, causes and consequences of late diagnosis. METHODS: A prospective, population cohort study was undertaken for newly diagnosed ARMs in the UK and Ireland from 01/10/2015 and 30/09/2016. Follow-up was completed at one year. Data are presented as n (%), appropriate statistical methods used. Factors associated with late diagnosis; defined as: detection of ARM either following discharge or more than 72 h after birth were assessed with univariable logistic regression. RESULTS: Twenty six centres reported on 174 cases, 158 of which were classified according to the type of malformation and 154 had completed surgical data. Overall, perineal fistula was the most commonly detected anomaly 43/158 (27%); of the 41 of these children undergoing surgery, 15 (37%) had a stoma formed. 21/154 (14%, CI95{9-20}) patients undergoing surgery experienced post-operative complications. Thirty-nine (22%) were diagnosed late and 12 (7%) were detected >30 days after birth. Factors associated with late diagnosis included female sex (OR 2.06; 1.0-4.26), having a visible perineal opening (OR 2.63; 1.21-5.67) and anomalies leading to visible meconium on the perineum (OR 18.74; 2.47-141.73). 56/174 (32%) had a diagnosis of VACTERL association (vertebral, anorectal, cardiac, tracheal, oesophageal, renal and limb); however, not all infants were investigated for commonly associated anomalies. 51/140 (36%) had a cardiac anomaly detected on echocardiogram. CONCLUSION: There is room for improvement within the care for infants born with ARM in the UK and Ireland. Upskilling those performing neonatal examination to allow timely diagnosis, instruction of universal screening for associated anomalies and further analysis of the factors leading to clinically unnecessary stoma formation are warranted. LEVEL OF EVIDENCE: II (Prospective Cohort Study <80% follow-up).
Asunto(s)
Malformaciones Anorrectales , Diagnóstico Tardío , Humanos , Irlanda/epidemiología , Femenino , Recién Nacido , Masculino , Reino Unido/epidemiología , Malformaciones Anorrectales/diagnóstico , Malformaciones Anorrectales/cirugía , Malformaciones Anorrectales/epidemiología , Estudios Prospectivos , Diagnóstico Tardío/estadística & datos numéricos , Canal Anal/anomalías , Canal Anal/cirugía , Recto/anomalías , Recto/cirugía , Complicaciones Posoperatorias/epidemiología , Complicaciones Posoperatorias/diagnóstico , Estudios de Seguimiento , Tráquea/anomalías , Tráquea/cirugía , Ano Imperforado/cirugía , Ano Imperforado/diagnóstico , Lactante , Esófago/anomalías , Esófago/cirugía , Deformidades Congénitas de las Extremidades/diagnóstico , Deformidades Congénitas de las Extremidades/cirugía , Deformidades Congénitas de las Extremidades/epidemiología , Cardiopatías Congénitas/diagnóstico , Cardiopatías Congénitas/cirugía , Riñón/anomalías , Columna Vertebral/anomalíasAsunto(s)
Malformaciones Anorrectales , Obstrucción Duodenal , Atresia Esofágica , Atresia Intestinal , Humanos , Atresia Esofágica/complicaciones , Atresia Esofágica/epidemiología , Malformaciones Anorrectales/complicaciones , Malformaciones Anorrectales/diagnóstico , Malformaciones Anorrectales/epidemiología , Obstrucción Duodenal/etiología , Atresia Intestinal/epidemiologíaRESUMEN
BACKGROUND: Vesico-ureteral reflux (VUR) is a common associated urological anomaly in anorectal malformation (ARM)-patients. High-grade VUR requires antibiotic prophylaxis to prevent urinary tract infections (UTI's), renal scarring and -failure. The exact prevalence of high-grade VUR in ARM patients is unknown. Hence, the aim of this study was determining the incidence of high-grade VUR in ARM-patients, and its associated risk factors. METHODS: A multicenter retrospective cohort study was performed using the ARM-Net registry, including data from 34 centers. Patient characteristics, screening for and presence of renal anomalies and VUR, sacral and spinal anomalies, and sacral ratio were registered. Phenotypes of ARM were grouped according to their complexity in complex and less complex. Multivariable analyses were performed to detect independent risk factors for high-grade (grade III-V) VUR. RESULTS: This study included 2502 patients (50 % female). Renal screening was performed in 2250 patients (90 %), of whom 648 (29 %) had a renal anomaly documented. VUR-screening was performed in 789 patients (32 %), establishing high-grade VUR in 150 (19 %). In patients with a normal renal screening, high-grade VUR was still present in 10 % of patients. Independent risk factors for presence of high-grade VUR were a complex ARM (OR 2.6, 95 %CI 1.6-4.3), and any renal anomaly (OR 3.3, 95 %CI 2.1-5.3). CONCLUSIONS: Although renal screening is performed in the vast majority of patients, only 32 % underwent VUR-screening. Complex ARM and any renal anomaly were independent risk factors for high-grade VUR. Remarkably, 10 % had high-grade VUR despite normal renal screening. Therefore, VUR-screening seems indicated in all ARM patients regardless of renal screening results, to prevent sequelae such as UTI's, renal scarring and ultimately renal failure. TYPE OF STUDY: Observational Cohort-Study. LEVEL OF EVIDENCE: III.
Asunto(s)
Malformaciones Anorrectales , Sistema de Registros , Reflujo Vesicoureteral , Humanos , Reflujo Vesicoureteral/complicaciones , Reflujo Vesicoureteral/epidemiología , Reflujo Vesicoureteral/diagnóstico , Femenino , Masculino , Estudios Retrospectivos , Malformaciones Anorrectales/epidemiología , Malformaciones Anorrectales/complicaciones , Malformaciones Anorrectales/diagnóstico , Recién Nacido , Factores de Riesgo , Incidencia , Lactante , Anomalías Múltiples/epidemiologíaRESUMEN
Introducción: Existen múltiples herramientas para optimizar la función defecatoria en pacientes con malformación anorrectal (MAR): hábitos, laxantes, irrigaciones retrógradas o anterógradas. Estas se adecuan de forma progresiva y combinada. El objetivo de este estudio fue evaluar la incorporación del dispositivo de irrigación transanal (ITA) al tratamiento del estreñimiento y la incontinencia fecal en pacientes con MAR. Materiales y métodos: Estudio retrospectivo en pacientes con MAR con indicación del ITA según el protocolo de manejo intestinal del consultorio de patología colorrectal desde el 2015 al 2022. Tras usarlo más de 3 meses, los pacientes o sus cuidadores completaron un cuestionario telefónico propio aprobado por el comité de ética. Resultados: 39 pacientes con MAR: 11 fístulas rectouretrales, 6 rectovesicales, 16 cloacas, 2 rectovaginales, 2 perineales y 2 vestibulares. El 44% presentó un Índice Sacro < 0,4. El 62% presentaban estreñimiento y el 38% incontinencia. Debido al uso del ITA, mejoró la sensación de confianza y seguridad en muy alto y alto grado en el 89% de los pacientes. Disminuyó mucho el tiempo dedicado a su manejo intestinal en el 68%. El 79% refiere mejoría en su calidad de vida con 9 y 10 puntos. El 92% calificaron su satisfacción general con ITA con un valor de 8, 9 y 10 siendo 10 completamente satisfecho. El 100% lo recomiendan. Conclusión. El ITA es una buena alternativa para el manejo intestinal de la incontinencia fecal y el estreñimiento.(AU)
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 units 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.(AU)
Asunto(s)
Humanos , Masculino , Femenino , Niño , Malformaciones Anorrectales/diagnóstico , Fístula/clasificación , Irrigación Terapéutica , Incontinencia Fecal , Estreñimiento , Intestino Neurogénico , Cirugía General , Pediatría , Estudios RetrospectivosRESUMEN
ABSTRACT: Male congenital urethrocutaneous fistula is an extremely rare anomaly that is commonly associated with chordee or anorectal malformations. It is characterised by an abnormal urethral opening on the ventral aspect of the penis with well-formed distal urethra and meatus at the tip of the glans. The treatment is individualised according to the site of the fistula, associated anomalies and condition of the distal urethra. The principles of hypospadias surgery should be strictly followed.
Asunto(s)
Malformaciones Anorrectales , Hipospadias , Masculino , Humanos , Hipospadias/complicaciones , Hipospadias/cirugía , Malformaciones Anorrectales/complicaciones , Malformaciones Anorrectales/diagnóstico , Malformaciones Anorrectales/cirugía , Uretra/cirugíaRESUMEN
ABSTRACT: 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.
Asunto(s)
Malformaciones Anorrectales , Anomalías Congénitas , Enfermedades Renales , Riñón/anomalías , Recién Nacido , Humanos , Masculino , Malformaciones Anorrectales/complicaciones , Malformaciones Anorrectales/diagnóstico , Malformaciones Anorrectales/cirugía , Enfermedades Renales/complicaciones , Enfermedades Renales/diagnóstico , Enfermedades Renales/cirugía , Genotipo , GenitalesRESUMEN
AIM OF THE STUDY: The coexistence of Hirschsprung's disease (HD) with anorectal malformation (ARM) is rare but many surgeons still ask pathologists to look for ganglia in the terminal rectum or fistula. In this study, we aimed to highlight the rarity of this association and question the necessity of histological evaluation. METHODS: After obtaining board review approval, rectal specimens of ARM patients who underwent corrective surgery in the last 8 years were re-analyzed by two blinded pathologists for the presence and structure of ganglia. Clinical and radiological data of patients retrieved from center records and correlated with histopathologic findings. MAIN RESULTS: 67 patients with ARM were identified, distal rectal specimen was obtained in 47. The median age at the time of surgery was 11 months (2 days-59 months). A normal pattern of ganglia was present in 51.1% (24/47), 29.7% (14/47) had aganglionosis and 19.1% (9/47) were inconclusive due to insufficient material. None of the aganglionic specimens showed other histological findings of HD. Patients were followed up regularly in the outpatient colorectal clinic for a median of 87 months (42-117 m). Only 6 experienced severe constipation (3 ganglionic, 2 no biopsy, 1 aganglionic), all of whom responded to a bowel management program, and none developed other manifestations of HD (abdominal distension, failure to thrive or enterocolitis) or required additional surgery. CONCLUSIONS: Our results strongly suggest that the association of ARM and HD is extremely rare and the practice of searching for ganglia in the distal rectum or fistula of ARM patients should be discouraged to avoid potential misdiagnosis and overtreatment.
Asunto(s)
Malformaciones Anorrectales , Fístula , Enfermedad de Hirschsprung , Humanos , Lactante , Malformaciones Anorrectales/diagnóstico , Malformaciones Anorrectales/cirugía , Recto/cirugía , Biopsia , Enfermedad de Hirschsprung/diagnóstico , Enfermedad de Hirschsprung/cirugíaRESUMEN
Congenital perineal grove (CPG) is a rare anorectal anomaly; only 65 cases have been reported in literature. Two cases who were referred for evaluation of a lesion in the perineum are reported here. The patients were diagnosed clinically as CPG in neonatal period and were initially managed conservatively. Surgery was required in one case as the lesion was persistent and symptomatic. A high index of suspicion is required for diagnosis of CPG to avoid parental anxiety and unnecessary diagnostic work-up and surgery. Surgery is required only in cases where the lesion persists or there is infection, pain, and ulceration.
Asunto(s)
Malformaciones Anorrectales , Recién Nacido , Humanos , Femenino , Malformaciones Anorrectales/diagnóstico , Malformaciones Anorrectales/cirugía , Malformaciones Anorrectales/patología , Canal Anal/cirugía , Canal Anal/anomalías , Canal Anal/patología , Perineo , DolorRESUMEN
BACKGROUND/RATIONALE: Anorectal malformations (ARM) are associated with congenital anomalies of the spine, but the impact of a minor spinal cord dysraphism (mSCD) on fecal continence in the setting of ARM remains unclear. MATERIALS/METHODS: A retrospective review was performed utilizing data from the Pediatric Colorectal and Pelvic Learning Consortium (PCPLC) registry. The patient cohort was reviewed for ARM type, mSCD screening/incidence/neurosurgical intervention and age-based BMP utilization. RESULTS: 987 patients with ARM were categorized into mild (38%), moderate (32%) or complex (19%). 694 (70%) had normal spinal (NS) status. 271 (27.5%) patients had mSCD. MRI alone (49%) was the most common screening test for mSCD. US screening had a positive predictive value of 86.3% and a negative predictive value of 67.1%. Surgical intervention rates for mSCD ranged between 13% and 77% at a median age of 0.6-5.2 years. 726 (73.6%) patients were prescribed BMP (74.4% NS, 77.5% mSCD). Laxatives were most utilized BMP in all groups <5yo. ≥5yo, enema utilization increased with ARM complexity independent of spine status (with or without neurosurgical intervention). Neurosurgical intervention did not affect BMP utilization at any age or with any ARM when mSCD was identified. CONCLUSIONS: MSCD influence on bowel function in the setting ARM remains unclear. No significant impact of mSCD was noted on ARM patient bowel management program utilization. Variability exists within PCPLC site with screening and intervention for mSCD in patients with ARM. Future studies with standardized care may be needed to elucidate the true impact of mSCD on long term patient outcomes in ARM patients. TYPE OF STUDY: Retrospective Comparative Study. LEVEL OF EVIDENCE: III.
Asunto(s)
Malformaciones Anorrectales , Neoplasias Colorrectales , Cardiopatías Congénitas , Defectos del Tubo Neural , Disrafia Espinal , Niño , Humanos , Lactante , Preescolar , Malformaciones Anorrectales/complicaciones , Malformaciones Anorrectales/diagnóstico , Malformaciones Anorrectales/terapia , Estudios Retrospectivos , Disrafia Espinal/complicaciones , Disrafia Espinal/diagnóstico , Disrafia Espinal/terapia , Defectos del Tubo Neural/complicaciones , Defectos del Tubo Neural/diagnóstico , Defectos del Tubo Neural/cirugía , Médula Espinal/anomalías , Cardiopatías Congénitas/complicaciones , Neoplasias Colorrectales/complicacionesRESUMEN
PURPOSE: The majority of patients with an anorectal malformation (ARM) have associated congenital anomalies. It is well established that all patients diagnosed with an ARM should undergo systematic screening, including renal, spinal, and cardiac imaging. This study aimed to evaluate the findings and completeness of screening, following local implementation of standardized protocols. METHODS: A retrospective cohort study was performed assessing all patients with an ARM managed at our tertiary pediatric surgical center, following a standardized protocol implementation for VACTERL screening (January 2016-December 2021). Cohort demographics, medical characteristics, and screening investigations were analyzed. Findings were compared with our previously published data (2000-2015), conducted prior to protocol implementation. RESULTS: One hundred twenty-seven (64 male, 50.4%) children were eligible for inclusion. Complete screening was performed in 107/127 (84.3%) children. Of these, one or more associated anomalies were diagnosed in 85/107 (79.4%), whilst the VACTERL association was demonstrated in 57/107 (53.3%). The proportion of children that underwent complete screening increased significantly in comparison with those assessed prior to protocol implementation (RR 0.43 [CI 0.27-0.66]; p < 0.001). Children with less complex ARM types were significantly less likely to receive complete screening (p = 0.028). Neither presence of an associated anomaly, nor prevalence of the VACTERL association, differed significantly by ARM type complexity. CONCLUSION: Screening for associated VACTERL anomalies in children with ARM was significantly improved following standardized protocol implementation. The prevalence of associated anomalies in our cohort supports the value of routine VACTERL screening in all children with ARM, regardless of malformation type. LEVEL OF EVIDENCE: II.
Asunto(s)
Malformaciones Anorrectales , Cardiopatías Congénitas , Deformidades Congénitas de las Extremidades , Humanos , Masculino , Niño , Malformaciones Anorrectales/diagnóstico , Malformaciones Anorrectales/epidemiología , Estudios Retrospectivos , Deformidades Congénitas de las Extremidades/diagnóstico , Deformidades Congénitas de las Extremidades/epidemiología , Cardiopatías Congénitas/diagnóstico , Cardiopatías Congénitas/epidemiología , Canal Anal/anomalías , Columna Vertebral/anomalíasRESUMEN
Anorectal malformations (ARMs) are a spectrum of congenital anomalies where there is abnormal development of the anus and rectum. With an incidence of 1:5000 live births and affecting both males and females, these anomalies vary in their appearance and presentation, lack features enabling antenatal detection and should be detected at birth by the examining midwife or within 72 hours through the newborn and infant physical examination (NIPE) screening programme. However, it is recognised that the diagnosis of ARMs can be missed or delayed leading to morbidity and mortality. In the UK, despite the existence of the NIPE screening programme and NICE guidelines, published literature shows that nearly a quarter of ARMs are not diagnosed at birth. This review takes a critical look at the frequency of missed/delayed diagnosis of ARMs at birth, the implications of delayed diagnosis, and the possible reasons for this related to education and training of healthcare professionals involved in newborn examination, focusing on the UK national screening programme for NIPE. We propose a strategy for enhancing detection of ARMs in a timely manner through the existing framework of the NIPE screening programme.