Letter To Editor

A 7 month old boy was referred to the outpatient department with suspected Hirschsprung Disease. There was a history of difficulty in passing stool since 2 months of age with occasional abdominal fullness. He was born at term with a birth weight of 3.5kg and had passed meconium within 24 hours of life. The constipation had progressively worsened over time, becoming more severe after the introduction of complementary feeds a month ago. For these complaints, he was initiated on laxatives by a primary care physician and subsequently underwent a contrast enema. The images revealed filling defects (fecaloma) along with a transition zone in the distal rectum (Fig. 1). The parents were counselled for the need of a rectal biopsy for confirmation of diagnosis and referred for further evaluation. At the time of physical examination, the child was found to have mild abdominal distension and an anal opening that appeared externally normal (Fig. 2). However, on attempting a per rectal examination, it was found that the anal opening could not admit even the tip of the little finger. 

He was admitted and rectal irrigations were initiated with a 6 Fr infant feeding tube to facilitate decompression of the abdomen. Examination under anesthesia showed that the anal opening was within the sphincter muscle complex but barely 5 mm wide (Figure 2B). He underwent an anoplasty and was put on an anal dilatation regimen in his follow up. At 2 month follow up the child is doing well and passing stool daily through the adequately sized neoanus. The prevalence of Anorectal Malformations (ARM) is 3.5:10,000 live births and can cause significant morbidity and mortality when the diagnosis is delayed [1]. The incidence of missed or delayed diagnosis is 23.8%, with ‘low or mild ARM’s such as the perineal fistula described in the index child being the most commonly missed [2,3]. A thorough visual inspection, including gluteal fold retraction, is essential in the neonatal period. A per rectal examination is crucial in infants with constipation for early detection of missed anorectal malformations, ensuring timely interventions and preventing long term morbidity.

Figure 1: External appearance of the perineum without retraction of the gluteal folds showing normal appearing anus; b: Examination under anaesthesia showing perineal fistula.

Keywords: Perineal Fistula; Infant; Anorectal Malformations

Conflict of Interest

The authors declared no potential conflicts of interest with respect to the research, authorship and/or publication of this article.

Funding Statement

This research did not receive any specific grant from funding agencies in the public, commercial or non-profit sectors.

Acknowledgement

The authors have no acknowledgments to declare.

Data Availability Statement

The data supporting the findings of this study are available from the corresponding author upon reasonable request.

Ethical Statement

The project did not meet the definition of human subject research under the purview of the IRB according to federal regulations and therefore was exempt.

Informed Consent Statement

Informed consent was obtained from all participants included in the study.

Authors’ Contributions

AS: Writing – original draft, Image acquisition and formatting, Consent; SH – Conceptualization, Writing – review and editing. Both authors approved the final draft.

References

1. Haider N, Fisher R. Mortality and morbidity associated with late diagnosis of anorectal malformations in children. Surgeon. 2007;5(6):327-30.
2. Murthi GV, McEwan T, Walker GM, Bustani P. Missed or delayed diagnosis of anorectal malformations: A review of the literature, current training and practice in the UK in relation to detection via the NIPE programme. Arch Dis Child Fetal Neonatal Ed. 2024;109(1):4-9.
3. Jonker JE, Trzpis M, Broens PM. Underdiagnosis of mild congenital anorectal malformations. J Pediatr. 2017;186:101-4.