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Diagnosis of Hirschsprung's Disease by Immunostaining Rectal Suction Biopsies for Calretinin, S100 Protein and Protein Gene Product 9.5
Published on: April 26, 2019
A RARE PRESENTATION OF TWO COLORECTAL ANOMALIES: ANORECTALMALFORMATION CO-EXISTING WITH HIRSCHSPRUNG'S DISEASE IN
K I Egbuchulem1, T A Lawal1,2, O O Ogundoyin1,2
1Division of Paediatric Surgery, Department of Surgery, University College Hospital, Ibadan.
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.
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