Different criteria have been used in literature to describe the anterior ectopic anus (AEA) anomaly, resulting in uncertainty over its prevalence, association with constipation and definition of the indications for surgery. It has been recently proposed that the term AEA should be restricted to anomalies in which a normal appearing anal orifice is located in the perineum in a more anterior location than normal, with an anal canal of normal calibre that is shown by electrical stimulation to be surrounded by the voluntary external anal sphincter (EAS). We report about four infants, three females and one male, who presented with constipation and had an anteriorly located anal orifice of normal calibre. The anal position index measured clinically was less than 0.34 in all the female patients and 0.44 in the male patient. In preoperative magnetic resonance imaging (MRI), the EAS was distributed all around the circumference of the anal canal, including the ventral aspect of the anal canal, in all the patients. Preoperative MRI documentation of sphincter distribution is recommended for the diagnosis of AEA, as it would help in better definition of its association with constipation and the results of surgical management.
This 10-year review of surgical conditions in infants at the University Hospital, Kuala Lumpur, highlights some of the more common problems encountered and outlines their management. Anorectal agenesis and Hirschsprung's disease were seen relatively more frequently than other anomalies of the gastrointestinal tract. The management of these two conditions and the operation of colostomy and its complications are singled out and presented in some detail.
Limited data on the survival of anorectal malformation (ARM) patients from lower- and middle-income countries is available. This retrospective population-based study from the State of Johor, Malaysia, determines the incidence, mortality rate, and survival of ARM patients and factors associated with mortality. Kaplan-Meier survival analysis was used to estimate the survival of ARM patients at 1, 5, and 10 years. In addition, multivariate Cox regression analysis was used to analyze mortality-related factors. There were 175 ARM patients among 803,850 live births, giving an overall ARM incidence of 2.2 (95% confidence interval [CI], 1.9 to 2.5) per 10,000 live births. The male-to-female ratio was 1.5:1. There were 122 (69%) non-isolated ARM, of which 41 were Trisomy-21 and 34 had VACTERL association. Seventy-three (42%) had congenital heart disease (CHD), with 38 severe and 35 non-severe CHD. Overall, 33 (19%) patients died, with a median age of death of 5.7 months (interquartile range (IQR) 25 days to 11.2 months). The overall estimated 1-, 5-, and 10-year survival rate for ARM patients was 82% (95% CI, 76-89%), 77% (95% CI, 70-84%), and 77% (95% CI, 70-84%), respectively. Univariate analysis shows that non-isolated ARM, VACTERL association, and severe CHD were associated with mortality. However, only severe CHD is the independent factor associated with mortality, with a hazard ratio of 4.0 (95% CI, 1.9-8.4). Conclusion: CHD is common among ARM patients, and one in five ARM patients had a severe cardiac defect, significantly affecting their survival. What is Known: • VACTERL association and congenital heart disease are common in patient with anorectal malformation. • Low birth weight and prematurity are associated with a lower rate of survival. What is New: • Congenital heart disease is common in ARM patients in a middle-income country. • Severe congenital heart disease plays a significant role in the survival of patients with an anorectal malformation in lower- and middle-income countries.