Diagnosis

Hirschsprung's Disease

Congenital absence of ganglion cells in the distal GI tract (usually rectum) that results in intestinal obstruction and delayed passage of meconium.

Also known as: Congenital aganglionic megacolon

Etiology

Cause - Genetic association

Pathophysiology [p7v][raf]

  1. Three neuronal plexus innervate the intestine:

    • The submucosal (ie, Meissner) plexus

    • The intermuscular (ie, Auerbach) plexus

    • The smaller mucosal plexus

  2. All are involved in bowel function: absorption, secretion, motility, and blood flow.

  3. In patients with Hirschsprung disease, ganglion cells are absent.

  4. The result is an increased smooth muscle tone, imbalance of smooth muscle contractility, uncoordinated peristalsis, and a functional obstruction.

Classification of Hirschsprung disease [raf]

  1. Short-segment (80%): missing nerve cells from the rectum to the sigmoid colon [q6o]

  2. Long-segment: missing nerve cells from the rectum and a longer part of the colon

  3. Total colonic: missing nerve cells from the rectum and the entire colon

  4. Small intestinal: missing nerve cells from the rectum, colon, and the end of the small intestine

  5. Total intestinal: missing nerve cells from the rectum, colon, and (nearly) all of the small intestine

Complications [raf][1wp]

Epidemiology

Incidence per 100.000 [q6o][ira][7bn][oop]

Epidemiology chart for Incidence

Symptoms & findings

Symptoms

Absent feces, Absent flatus, Constipation, Diarrhea, Failure to thrive, Fever, Hematochezia, Vomiting

Clinical findings

Gastrointestinal dilatation, Gastrointestinal obstruction, Peritonitis, Shock

Anamneses

None listed.

Localized findings

Swelling
Radiates
Abdomen
Onset
Gradual (days)
Pattern
IntermittentConstantIncreasing

Approach

Treatment

  1. Constipation: [raf]

    • Rectal irrigation

    • Laxatives

    • High-fiber diet

    • ACE / Malone procedure (appendicostomy) allowing daily bowel flushing

  2. Incontinence: stoma

  3. Surgical treatment for Hirschsprung’s disease involves a two-step process: [p7v][q6o]

    • Laparotomy and colostomy

    • Once the child’s weight, age, and condition are suitable --> pull-through procedure:

      • Swenson procedure

      • Duhamel procedure

      • Soave (endorectal) procedure (transanal endorectal pull-through) [7bn]

Differential diagnoses

Anorectal malformation, Constipation, Enterocolitis, Hypothyroidism, Irritable bowel syndrome, Meconium ileus, Ogilvie syndrome, Toxic megacolon

References

[1] http://emedicine.medscape.com/article/178493 (2014-01-02); [Medscape]

[2] Lotfollahzadeh S, Taherian M, Anand S. Hirschsprung Disease. [Updated 2023 Jun 3]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK562142/

[3] Calkins CM. Hirschsprung Disease beyond Infancy. Clin Colon Rectal Surg. 2018 Mar;31(2):51-60.

[4] Heuckeroth RO. Hirschsprung disease - integrating basic science and clinical medicine to improve outcomes. Nat Rev Gastroenterol Hepatol. 2018 Mar;15(3):152-167.

[5] Ambartsumyan L, Smith C, Kapur RP. Diagnosis of Hirschsprung Disease. Pediatr Dev Pathol. 2020 Jan-Feb;23(1):8-22.

[6] Suita S, Taguchi T, Ieiri S, Nakatsuji T. Hirschsprung's disease in Japan: analysis of 3852 patients based on a nationwide survey in 30 years. J Pediatr Surg. 2005 Jan;40(1):197-201; discussion 201-2.

[7] Best KE, Addor MC, Arriola L, Balku E, Barisic I, Bianchi F, Calzolari E, Curran R, Doray B, Draper E, Garne E, Gatt M, Haeusler M, Bergman J, Khoshnood B, Klungsoyr K, Martos C, Materna-Kiryluk A, Matias Dias C, McDonnell B, Mullaney C, Nelen V, O'Mahony M, Queisser-Luft A, Randrianaivo H, Rissmann A, Rounding C, Sipek A, Thompson R, Tucker D, Wellesley D, Zymak-Zakutnia N, Rankin J. Hirschsprung's disease prevalence in Europe: a register based study. Birth Defects Res A Clin Mol Teratol. 2014 Sep;100(9):695-702.

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