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  • Diagnostic dilemma and challenges in management: Hirschsprung’s disease, anal stenosis and reduced interstitial cells of Cajal enteric mesenchymopathy

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Case Reports: Rare disease
Diagnostic dilemma and challenges in management: Hirschsprung’s disease, anal stenosis and reduced interstitial cells of Cajal enteric mesenchymopathy
  1. Esther Ern Hwei Chan1,
  2. Khurshid Merchant2,
  3. Mohd Yusran Othman3 and
  4. Narasimhan Kannan Laksmi1
  1. 1Department of Paediatric Surgery, KK Women's and Children's Hospital, Singapore
  2. 2Department of Pathology and Laboratory Medicine, KK Women's and Children's Hospital, Singapore
  3. 3Department of Paediatric Surgery, Hospital Tunku Azizah (Kuala Lumpur Women's and Children's Hospital), Kuala Lumpur, Malaysia
  1. Correspondence to Dr Esther Ern Hwei Chan; esther.chan.e.h{at}kkh.com.sg

Abstract

Hirschsprung’s disease (HD) is one of the most well-known gastrointestinal motility disorders. Diagnosis and management of other lesser-known motility disorders are often challenging and tedious. We describe a teenager who was severely constipated from birth and needed intensive care admissions for life-threatening enterocolitis. She also had concomitant anal stenosis. Several rectal biopsies were unable to yield a conclusive diagnosis. Surgical level of resection had to be identified based on the motility of the bowel as determined by transit studies using oral ingestion of a milk feed labelled with Technetium-99m colloid. After completion of all operative stages, histopathological examination of the excised specimens concluded that she had short-segment HD associated with reduced interstitial cells of Cajal in the large bowel. She is currently continent, evacuating voluntarily approximately four times a day and is relieved of all her symptoms.

  • Paediatric Surgery
  • Medical management
  • Childhood nutrition (paediatrics)

https://doi.org/10.1136/bcr-2022-252484

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    Footnotes

    • Contributors EEHC, KM, MYO and NKL made substantial contributions to the conception and drafting of the article and revising it critically for important intellectual content. All authors gave final approval of the version to be published.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.