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

Author:

Chan Esther Ern HweiORCID,Merchant Khurshid,Othman Mohd Yusran,Laksmi Narasimhan Kannan

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.

Publisher

BMJ

Subject

General Medicine

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