Anorectal Malformations Associated with Esophageal Atresia in Neonates

Abstract

PurposeAnorectal malformations are often associated with other anomalies, reporting frequency with 40-70%. Gastrointestinal anomalies have been known to be relatively less common than associated anomalies of other organ system. This study was performed to assess a distinctive feature of cases associated with esophageal atresia.MethodsClinical data (from January 2000 through December 2011) on the 196 subjects with anorectal malformations, managed in our Hospital, were reviewed. Total 14 neonates were identified with accompanying esophageal atresia and retrospective analysis was conducted.ResultsThe incidence was 7.1% and there were 8 male and 6 female subjects. Only 2 cases were associated with esophageal atresia without tracheoesophageal fistula. Although variable cases of anorectal malformation in female subjects, almost cases were anorectal malformations with rectourethral fistula in male. Other associated anomalies were identified in all cases, with more than 3 anomalies in 10 cases. There were 4 VACTERL (Vertebral abnormalities, Anal atresia, Cardiac anomalies, Tracheoesophageal fistula, Esophageal atresia, Renal and Limb anomalies) associations accounting for 28.6%, but could not identify chromosomal anomaly. Most cases were managed with staged procedure, usually primary repair of esophageal atresia and diverting colostomy. Overall mortality rate was 21.4%, mainly caused by heart problems.ConclusionThis study shows that early diagnosis and rational surgical approach with multidisciplinary plan are mandatory in managing anorectal malformations with esophageal atresia, when considering a high frequency of associated anomaly and a relative high mortality.

Simultaneous single-staged repair of anorectal malformation with tracheoesophageal fistula: Lessons learned

“…Genitourinary tract anomalies (40%–50%) are most commonly reported followed by cardiovascular disorders (30%–35%), spinal cord tethering (25%–30%), gastrointestinal anomalies (5%–10%), and VACTERL (4%–9%) anomalies. [10111213] The mortality of children with ARM is now mostly limited to group of patients associated with severe cardiac anomalies.…”

“…have reported a mortality rate of 24.1% in patients with ARM with EA ± TEF in spite of excellent survival of patients with EA ± TEF alone. [13]…”

Genetics of gastrointestinal atresias

“…Anal anomalies occur approximately in 1 every 2500 newborns, and one third are isolated defects, while the remaining two thirds are associated with other anomalies, including EA (Byun et al, 2013;Cuschieri et al, 2001). The London Dysmorphology Database (Winter and Baraitser, 2003) records more than 130 syndromes that include anal atresia as a feature.…”

High-Resolution Esophageal Manometry in Teenagers with Esophageal Atresia

“…EA is one of the most frequent birth defects, with an incidence of 1 in 3000 live births [1]. Until the 1950s, these patients had 100% mortality; nowadays, the survival rate is greater than 90%, and only those with associated severe malformations die [1] Type C EA (atresia of the esophageal proximal segment with tracheoesophageal fistula between the trachea and the distal segment) is the most common variant, since it is present in 85% of the cases [6] [7] [8]. There is evidence that the esophageal motor disorder present in these children is secondary to a congenital neuromuscular disorder and a postoperative disorder [9]- [14].…”