A RARE PRESENTATION OF TWO COLORECTAL ANOMALIES: ANORECTALMALFORMATION CO-EXISTING WITH HIRSCHSPRUNG’S DISEASE IN IBADAN

K.I. Egbuchulem1, T.A. Lawal1,2, O.O. Ogundoyin1,2, D.I. Olulana1,2, A.O. Takure2,3, O.T. Ojediran1, H.D. Ogundipe1

  1. Division of Paediatric Surgery, Department of Surgery, University College Hospital, Ibadan.
  2. Department of Surgery, University of Ibadan, Ibadan.
  3. Division of Urological Surgery, Department of Surgery, University College Hospital, Ibadan.

Abstract

Background: The association of Hirschsprung’s disease with anorectal malformation (ARM) is both diagnostically and surgically challenging, in addition to it being a rarity. Symptoms attributable to post-repair of ARM may mask the underlying Hirschsprung’s disease (HD) and become worse after closure of stoma. We aim to highlight this rare finding, the challenges associated with the management and the consequent multiple surgeries the patient underwent.

Case presentation: We report the case of a seven-year-old boy who had a diverting Devine descending colostomy for high ARM and was followed up until he had a posterior sagittal anorectoplasty (PSARP). He thereafter re-presented with complaints of intermittent constipation which was not responsive to rectal washout necessitating a levelling colostomy and subsequently an abdominal Swenson’s pull-through procedure. Postoperative period was complicated with a colo-urethral fistula (Urethroscopy findings https://youtu.be/lxzyp1uHFpE?feature=shared) necessitating multiple staged surgeries. He has been followed up in clinic for over one-year post-surgery with complaints relating to frequent bowel motion, passes well-formed stool about three times daily. We report a rare case of HD associated with ARM, highlighting the delay in diagnosis, the associated morbidities requiring multiple surgeries and the challenges encountered in the management of the patient.

Conclusion: Hirschsprung’s disease in a patient with anorectal malformation is a very rare occurrence, which can be fraught with delayed diagnosis and consequences as a result of the previous anorectoplasty. There is need to have a high index of suspicion and we hope this report will help raise the awareness of this association.

Keywords: Anorectal malformation, Coexisting anomalies, Hirschsprung’s, Ibadan, Nigerian.

Correspondence:

Dr. K.I. Egbuchulem
Division of Paediatric Surgery,
Department of Surgery,
University College Hospital,
Ibadan.
Email: ifeanyiegbuchulem@yahoo.com
Submission Date: 18th Sept., 2023
Date of Acceptance: 3rd Jul., 2024
Publication Date: 30th Aug., 2024.

Introduction

The association of Hirschsprung’s disease (HD) and anorectal malformation (ARM) is rare. The exact incidence of this association is not known but HD coexisting with ARM has been reported in 2.3 to 5.6% of patients with ARM.1-3

This association poses both a diagnostic as well as a surgical challenge as depicted in this index presentation. Symptoms such as constipation, straining, faecal soilage from stricture or anal stenosis attributable to the repair of the ARM may mask the underlying HD in both low and high ARM. The stoma for high ARM is usually fashioned proximally in the descending colon/sigmoid colon that is likely to be “ganglionated” which implies that the aganglionic segment distal to the stoma is reconnected and hence problematic after closure of stoma4.

We aim to highlight a rare association of two major congenital colorectal malformations and illustrate then challenges encountered in the management of the patient.

Case Presentation
The patient, a seven-year-old male, who was delivere to a 29-year old healthy woman. He developed progressive abdominal distension with failure to pass meconium and was observed to have an absent anus on the second day of life. This necessitated a diverting Devine descending colostomy and he was subsequently followed up until he had a posterior sagittal ano rectoplasty (PSARP) at the age of 19 months, and closure of colostomy at 22 months

Three months post colostomy closure, he re-presented with complaints of intermittent constipation which was initially responsive to digital anal stimulation with a diagnosis of anal stenosis complicating PSARP, and anal dilatation with Hegar’s dilators was then judiciously recommended as per protocol.

Five years post PSARP he presented again to the surgery outpatient clinic with progressive abdominal distension. Bimanual rectal examination showed an indentable faecaloma in the lower abdomen. Twice daily rectal washout was instituted, and he was lost to follow up until twenty-one months later, when he re-presented with worsening of symptoms necessitating an admission.