Congenital obstructive bowel anomalies presenting after neonatal age (original) (raw)
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Congenital anomalies: 15 years of experience in a level III hospital
2017
Background: Congenital anomalies (CAs) are a leading cause of fetal and infant mortality and morbidity worldwide. They may be identified prenatally, at the moment of birth or later in life. Purpose: To describe the cases of CAs registered over the last 15 years at a level III hospital, comparing individuals who were detected through prenatal (preN) diagnosis with those detected through postnatal (postN) diagnosis. Methods: All records were collected from the Registo Nacional de Anomalias Congenitas (RENAC) online platform between 1 st January 2000 to 31 st December 2014, in a level III hospital, where cases of CAs were notified voluntarily (n = 1,222). We tested differences for selected variables between the years in study. A multivariate analysis was performed to identify potential factors associated to preN diagnosis. Results: We observed a total of 1,510 anomalies, being 493 (40.3%) circulatory, 252 (20.6%) chromosomal, 187 (15.3%) musculoskeletal, 138 (11.3%) digestive, 133 (10....
Late Diagnosis of Anorectal Malformations in Children
Anorectal malformations (ARM) include a wide spectrum of congenital defects of the anus, anal canal and rectum, which are often associated with congenital anomalies of other organ systems. They appear with different clinical presentations ranging from simple imperforate anal membrane to very complex defects. They are usually detected immediately after birth or early at neonatal age, but some patients with the milder defects are diagnosed at a later age. Objectives: The aim of this study is to analyze the incidence of patients with ARM diagnosed after neonatal period, clinical features and consequences of delayed diagnosis. Materials and Methods: Since 2010 we performed a combined retrospective and prospective analysis of a total of 76 patients with anorectal malformations, diagnosed and treated at our clinic between 2005 and 2014. We analyzed patients' age at the time of diagnosis, sex, type of defect, associated anomalies and postoperative functional outcome. Results: 18 patients with ARM (23.68%) were diagnosed beyond the neonatal period. Of them 11 were female (61.11%) and 7 male patients (38.89%). The earliest diagnosed patient was a male of three months of age, while the latest diagnosed patient was a female of 8.5 years of age. All patients had low type anomalies, presented with anal stenosis (16), perineal fistula (1) and vestibular fistula (1). Six patients (33.33%) were also diagnosed with associated anomalies. Conclusion: High incidence of delayed diagnosis of ARM highlights the importance of a careful, comprehensive clinical examination of the perineum of newborns. All patients with severe and chronic constipation must be evaluated for eventually missed diagnosis of low type anorectal malformations.
Delayed diagnosis of anorectal malformations: are current guidelines sufficient?
Journal of Paediatrics and Child Health, 2010
Aim: To determine the frequency and presenting features of infants with delayed diagnosis of anorectal malformations (ARM) referred to an Australian tertiary paediatric institution. Methods: Infants referred to our institution with a final diagnosis of ARM were retrospectively reviewed between 2001 and 2009. The first cohort consisted of patients that were referred between November 2001 and November 2006 with the diagnosis of an ARM that had been delayed for more than 48 h. The second cohort was those referred between December 2006 and May 2009 with whom the diagnosis of ARM had not been made within 24 h of birth. Results: Nineteen infants were referred with delayed diagnosis of an ARM over the 7.5 years of the study. Of 44 patients referred to our institution between December 2006 and May 2009, diagnosis of an ARM was delayed more than 24 h in 14 (32%). There was no difference in gender, birth weight, prematurity, type of malformation or presence of associated anomalies between those with timely and delayed diagnosis of their ARM. A significantly greater proportion of those with a delayed diagnosis presented with obstructive symptoms (86% vs. 27%, P < 0.001), including abdominal distension (57%) and delayed passage of meconium or stool (29%). Despite undergoing neonatal examination, the diagnosis of ARM was missed in 12 patients overall. Conclusion: Delayed diagnosis of an ARM appears to be common, occurring in approximately 32% of patients referred to our institution over the last 2.5 years. Current guidelines appear insufficient to ensure prompt diagnosis of ARM.
2019
Aim: To see the frequency of various types of congenital anomalies in infants and determine its contributing factors. Study design: Cross sectional study with retrospective study for etiological factors. Place and duration of study: Department of Pediatrics, Jinnah Hospital Lahore. from 1 November 2017 to 30 September,2018. Methods: All infants of both sexes presenting to the pediatric unit of Jinnah hospital Lahore for routine checkup or vaccination and having congenital anomalies were enrolled and data entered on prescribed performa and analyzed on SPSS v 22.0 Results: In our study 994 patients were enrolled in study, 232 patients (23.3%) had congenital anomalies in central nervous system. 94 children (9.5%) had gastro-intestinal system anomalies, 222 patients (22.3%) had congenital anomalies in musculo skeletal system, 84 (8.5%) had of cardio vascular system and remaining 362 patients (36.4%) had anomalies of genito-urinary system. Among five important contributing factors for co...
Gastrointestinal sistem cerrahi patolojilerine eşlik eden konjenital anomalilerin değerlendirilmesi
Cukurova Medical Journal
The aim of this study was to review accompanied congenital anomalies to gastrointestinal pathologies. Materials and Methods: The medical records of patients who were admitted to neonatal intensive care unit with gastrointestinal system surgical pathologies during 2015-2018 were retrospectively evaluated for associated congenital anomalies. Results: 67 patients were identified during the study period. The most common gastrointestinal system pathology was anal atresia in 15 cases (22.4%), followed by diaphragmatic hernia in 14 cases (20.9%), esophageal atresia (n:10) and ileal atresia (n:10) (14.9%). Thirty two patients (48.8%) have had accompanied congenital anomalies to gastrointestinal system pathologies. Congenital heart disease was the most common anomaly and the most frequent one was atrial septal defect in 18 cases (26.8%). In addition, there was complex congenital heart disease in (n:13) 19.4%. In 12 patients (17.9%), accompanied extracardiac anomalies were detected. Hydronephrosis and sludge in gall bladder were detected in three patients (4.5%). Vesicoureteral reflux or ectopic kidney or polysplenia was detected as a separate anomaly in each case. In our cases, prematurity rate was found in 54%. Conclusion: Gastrointestinal system pathologies are frequently associated with multiple anomalies, especially with congenital heart diseases. In addition, these patients are likely to be preterm baby.
Spectrum of Congenital Anomalies among Surgical Patients at a Tertiary Care Centre over 4 Years
International Journal of Pediatrics, 2017
Introduction. Congenital anomalies are important causes of childhood death, chronic illness, and disability in many countries. Congenital malformations are rapidly emerging as one of the major worldwide problems. Aim. To study the percentage of various congenital anomalies among the patients admitted in Department of Pediatric Surgery at a tertiary care centre over a period of four years from 2011 to 2015 in our centre. Results. Neural tube defects were found to be the most common anomalies in 24.3% of the children admitted. Other common anomalies were anorectal malformation (20.7%), tracheoesophageal fistula (20%), and intestinal obstruction (14.84%). Majority (60.5%) of the patients were males. Conclusion. Congenital malformations are rapidly emerging as one of the major worldwide problems as they can result in long-term disability, which may have significant impacts on individuals, families, health-care systems, and societies. Regular antenatal visits and prenatal diagnosis are r...
BMJ Open, 2019
IntroductionCongenital anomalies are the fifth leading cause of death in children <5 years of age globally, contributing an estimated half a million deaths per year. Very limited literature exists from low and middle income countries (LMICs) where most of these deaths occur. The Global PaedSurg Research Collaboration aims to undertake the first multicentre, international, prospective cohort study of a selection of common congenital anomalies comparing management and outcomes between low, middle and high income countries (HICs) globally.Methods and analysisThe Global PaedSurg Research Collaboration consists of surgeons, paediatricians, anaesthetists and allied healthcare professionals involved in the surgical care of children globally. Collaborators will prospectively collect observational data on consecutive patients presenting for the first time, with one of seven common congenital anomalies (oesophageal atresia, congenital diaphragmatic hernia, intestinal atresia, gastroschisis...
Major Congenital Anomalies: A New Rising Tide of Concern to the Health System
2020
Introduction: WHO has considered Major Congenital Anomalies (MCA) as a recognizable cause of morbidity and mortality in infants and children under five years of age. Method: This is a descriptive study of antenatal MCA over 10 years period from January 2009 to December 2018. All data were analyzed statistically using STATA software (Stata Corporation, College Station, TX). Results: During the study period, there were 147563 patients. Of which, 1502 cases found to have major congenital anomalies, among them 947 (63.05 %) fetuses with isolated major anomalies and 555 cases (36.95%) with MCA. The average antenatal prevalence of MCA for 10 years was 10.1 per 1000 pregnancies. The mean gestational age during the first visit was 27(5.5) weeks with range from 10 to 40 weeks. The maternal age was 30 (6.0) years. Coexisting maternal factors were observed in 481 (32%) of patients including gestational diabetes (8.8%), maternal age (6.59%) and recurrent early pregnancy loss (7.12%). Nervous system was the most common (29%) abnormalities observed and cardiothoracic system (24.9%) was the second most common. Perinatal outcomes showed that 9.6 % had early neonatal death, 19% had still births and 4 % had neonatal death. The perinatal mortality rate was 32.6% among fetuses with major congenital anomalies. Conclusions: The prevalence of major congenital anomalies in our papulation is double the international figures. This study emphasizes the need of national surveillance system and database for congenital anomalies and efforts should be focused in rising awareness of the occurrence and risk factors of congenital anomalies.
Egyptian Pediatric Association Gazette, 2015
Introduction: Hirschsprung's disease (HD) should be considered in children with neonatal-onset constipation. Clinical differentiation between HD and idiopathic constipation (IC) is difficult in late presenting infants. Consequently, paediatric surgical centres receive numerous referrals for rectal biopsies, requiring admissions and GA, particularly if suction biopsy is unavailable, and in older children. Methods: Forty-two cases referred for rectal biopsy, were studied for clinical features, single contrast enema, as compared to rectal biopsy findings, to determine the statistical reliability towards achieving a diagnosis. Results: The mean age at presentation was 106 days in HD patients, and 172 days in IC. Significant neonatal clinical features were present in 54%. Delayed passage of meconium was present in 86% of HD, compared to 14% of IC (p = 0.001). Rectal examination found a tight segment in 90% of HD, and a distended anorectum in 64% of IC (p = 0.005). The sensitivity of contrast enema was 86%, and the specificity was 90%. The histological analysis of strip rectal biopsy was sensitive in 93%, and inconclusive in 7%. Conclusion: This audit generated a checklist of 6 clinical and 3 radiological criteria, to differentiate HD from ID, including clinically (1) neonatal onset; (2) male sex; (3) congenital anomalies, dysmorphic features and/or family history of HD; (4) delayed meconium passage; (5) enterocolitis or significant bowel obstruction/impaction; (6) tight segment on rectal examination; and radiologically (7) funnelled transition zone or a reversed rectosigmoid index (<1); (8) delayed evacuation of contrast after 24 h; and (9) absent distension of the anorectum with contrast, absent mucosal irregularities, and absent sigmoid looping. ª 2015 Production and hosting by Elsevier B.V. on behalf of The Egyptian Pediatric Association. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
Anorectal anomalies and Hirschsprung disease (including stomas)
Surgery (Oxford), 2013
Anorectal malformations are congenital anomalies caused by a failure of the hindgut to open into an adequate position on the perineum. They are often associated with congenital anomalies in other systems. A thorough understanding of the anatomical aberration will allow surgical planning and correction of the defect. This article outlines the principle considerations in diagnosis, early and definitive management of these defects. Hirschsprung disease is a congenital anomaly caused by a failure of development of the enteric nervous system and consequent absence of ganglia. Marked spasticity of the bowel and functional bowel obstruction ensue. This article discusses recognition, diagnosis, initial and definitive management. In both conditions sequelae include lifelong incontinence. Optimization of long-term outcomes is therefore important and meticulous surgical management in early life should be coupled with careful follow-up.