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

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.

Keywords: Childhood nutrition (paediatrics); Medical management; Paediatric Surgery.

Figure 1

Abdominal radiographs demonstrating severe faecal loading in the colon throughout the years prior to definitive surgery.

Figure 2

Water-soluble contrast enema done prior to Hartmann’s procedure demonstrating a capacious rectum and redundant rectosigmoid loop, which was dilated measuring up to 10.3 cm in maximum calibre. Proximally, the visualised distal descending colon and proximal sigmoid loop appear normal.

Figure 3

Colonic transit scintigraphy showing significant tracer retention in the ascending and proximal transverse colon up to 72 hours. There was minimal tracer activity in the descending colon and stoma, which favoured delayed bowel transit from the ascending and transverse colon to the descending colon and stoma.

Figure 4

Distal resection margin demonstrating hypertrophied nerves (black arrows) on H&E staining (A). The submucosal hypertrophied nerves are highlighted on calretinin staining (B). Reduced number of interstitial cells of Cajal on CD117 staining (C: specimen, D: control) (A, B original magnification ×10, C, D original magnification ×20).

Figure 5

Graphic representation detailing the patient’s anatomy after each major surgical procedure (original work of Mohd Yusran Othman).

Figure 6

Summary of patient’s management (original work of Mohd Yusran Othman).