Anorectal: Hirschsprung’s Disease

Hirschsprung’s Disease – Pediatrics

Pediatrics

Hirschsprung’s Disease – Adults

Basics

  • Absence of Intramural Ganglion Cells of the Meissner (Submucosal) & Auerbach (Myenteric) Plexuses
    • From Defect in Craniocaudal Neuroblast Migration
  • Most Commonly Less Severe & Affects Only a Short Segment
  • Rare in Adults, 94% Diagnosed Before Age 5 Years
  • Associated with RET Mutation
    • Seen Especially with Long-Segment Disease – Consider MEN IIA Evaluation
  • More Common in Males

Presentation

  • Lifelong History of Chronic Constipation
  • Abdominal Pain
  • Abdominal Distention

Diagnosis

  • Dx: Full Thickness Rectal Bx with Aganglionosis
  • Radiology: Grossly Dilated Proximal Colon with Fecal Retention

Treatment

  • Treatment: Surgery
  • Short-Segment: Transanal Myomectomy
  • Long-Segment:
    • Swenson Procedure
      • Rectosigmoid Resection & Colorectal Anastomosis
    • Duhamel Procedure
      • Healthy Colon Lowered Posterior to Diseased Rectum Through the Avascular Plane
      • Diseased Rectum Left Intact
    • Soave Procedure
      • Resect Diseased Colon & Upper Rectum
      • Mucosa of Diseased Lower Rectum Resected
      • Colon Pulled Through the Lower Rectum

Hirschsprung Histology: No Myenteric Plexus Between the Two Muscle Layers 1

Hirschsprung Tissue “Swiss-Rolled”, Center is More Distal 2

References

  1. Musa ZA, Qasim BJ, Ghazi HF, Al Shaikhly AW. Diagnostic roles of calretinin in hirschsprung disease: A comparison to neuron-specific enolase. Saudi J Gastroenterol. 2017 Jan-Feb;23(1):60-66. doi: 10.4103/1319-3767.199118. (License: CC BY-NC-SA-3.0)
  2. Nothelfer K, Obermayr F, Belz N, Reinartz E, Bareiss PM, Bühring HJ, Beschorner R, Just L. Expression of the Wnt Receptor Frizzled-4 in the Human Enteric Nervous System of Infants. Stem Cells Int. 2016;2016:9076823. (License: CC BY-4.0)