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Gastrointestinal (GI) System

Hirschsprung disease

Congenital megacolon characterized by lack of ganglion cells/enteric nervous plexuses (Auerbach and Meissner plexuses) in distal segment of colon.

Congenital megacolon characterized by lack of ganglion cells/enteric nervous plexuses (Auerbach and Meissner plexuses) in distal segment of colon.

  • Also known as congenital aganglionic megacolon
  • M/C congenital gut motility disorder

History:

The condition is believed to have first been described in 1691 by Dutch anatomist Frederik Ruysch and is named after Danish physician Harald Hirschsprung following his description in 1888.


Etiology

Genetic associations:

  • RET loss-of-function mutation (associated with Down’s syndrome)
  • EDNRB mutation

Feural crest cell migration

Failure of neural crest cell migration leads to Hirschprung disease

Neural Crest Cells

Neuroblast

Migration
(Mouth → Anus)

[Week 8]
Proximal Colon

[Week 12]
Distal Colon

(RET &/or EDNRB mutation)

Disruption in migration & development of nerve fibres
between 8-12 weeks


No Auerbach’s plexus and/or Meissner’s plexus
at the affected site

Hirschsprung disease

Morphology:

  1. Proximal hypertrophied dilated segment
    • Normal ganglionic area
    • Dilated
    • Hyperaemia
    • Multiple ulcers
    • Hypertrophied circular muscle fibres
  2. Middle transitional zone (Conization)
    • Few ganglion cells
  3. Distal immobile spastic segment
    • Narrow, non-relaxing pathological segment

Classification

  1. Ultrashort segment HD: Anal canal + terminal rectum
  2. Short segment HD: Anal canal + total rectum
  3. Long segment HD: Anal canal + rectum + part of colon
  4. Total colonic HD: Anal canal + rectum + total colon
Classification of Hirschsprung's disease
Classification of Hirschsprung’s disease according to the aganglionic segment length. A – Conventional form with short aganglionic segment (S-HSCR); A and B – a form with long aganglionic segment (L-HSCR); A, B, and C – total colonic aganglionosis (TCA) | Szylberg, L., & Marszałek, A. (2014). Diagnosis of Hirschsprung’s disease with particular emphasis on histopathology. A systematic review of current literature. Przeglad Gastroenterologiczny, 9(5), 264–269. https://doi.org/10.5114/pg.2014.46160

Clinical Features

  • Bilious emesis
  • Abdominal distension
  • Failure to pass meconium within 48 hours
  • Chronic constipation
Hirschsprungs Disease case
“Patient, age 29, exhibiting symptom’s of Hirschsprung’s Disease,” The College of Physicians of Philadelphia Digital Library, accessed July 17, 2017, http://www.cppdigitallibrary.org/items/show/4412.

Complications:

  • Severe enterocolitis: Fever, bloody stools, explosive diarrhoea
  • Perforation
  • Peritonitis
  • Septicaemia

Diagnosis

Clinical examination:

  • Digital rectal examination (DRE): Empty rectum
  • Squirt sign: Explosive expulsion of faeces

Rectal suction biopsy:

GOLD STANDARD; sample taken from all 3 zones
  • Absence of ganglionic cells
  • Hypertrophied nerve bundles seen on acetylcholine esterase staining
Histopathology of Hirschsprung disease, also known as aganglionosis
Histopathology of Hirschsprung disease, also known as aganglionosis. Enzyme histochemistry showing aberrant acetylcholine esterase (AChE)-positive fibres (brown) in the lamina propria mucosae. | By Marvin 101 – Own work, CC BY-SA 3.0, https://commons.wikimedia.org/w/index.php?curid=4670973

Anorectal manometry

  • Absence of rectoanal reflex (DIAGNOSTIC)

Imaging:

  • X-ray (Abdomen)
    • Bowel distension + multiple air fluid levels
  • Barium enema
    • Without prior colonic preparation + slow injection of contrast
    • Narrow aganglionic bowel
    • Transition zone
    • Proximal dilated colon
Hirschsprung disease barium enema
A: Plain abdominal radiograph showing a PARTZ at rectosigmoid, arrow. B: Plain abdominal radiograph showing a PARTZ at midsigmoid, arrow. C: Plain abdominal radiograph showing a PARTZ at descending colon, arrow. D: Contrast enema showing a CETZ at rectosigmoid, arrow. E: Contrast enema showing a CETZ at midsigmoid, arrow. F: Contrast enema showing a CETZ at descending colon, arrow. PARTZ, Plain abdominal transition zone; CETZ, Contrast enema transition zone | By Pratap et al. BMC Pediatrics 2007 7:5 doi:10.1186/1471-2431-7-5, CC BY 2.0, https://commons.wikimedia.org/w/index.php?curid=2903347

Differential diagnosis:

  • Small left colon syndrome
  • Functional/retentive constipation
  • Total neuronal dysplasia
  • Cystic fibrosisMeconium plug syndrome
  • Anorectal malformations (ARM)
  • Hypothyroidism
  • Acquired megacolon

Management

  • Nutrient supplementation

Surgical  (definitive) management:

Performed when child attains 10kg weight
  1. Initial Colostomy (if needed in late presentation)
  2. Excision of aganglionic segment
  3. Coloanal anastomosis (maintain continuity)
  4. Closure of colostomy
Different types of reconstruction “pull-through” operations employed for the correction of Hirschsprung Disease.
Different types of reconstruction “pull-through” operations employed for the correction of Hirschsprung Disease. | Calkins, C. M. (2018). Hirschsprung Disease beyond Infancy. Clinics in Colon and Rectal Surgery, 31(2), 51–60. https://doi.org/10.1055/s-0037-1604034

Complications:

  • Severe colitis
  • Fecal fistula
  • Stenosis
  • Stunted growth
Long-standing outlet obstruction from a restrictive cuff after a Soave pull-through
Long-standing outlet obstruction from a restrictive cuff after a Soave pull-through. Note the dilated proximal colon above the cuff. | Calkins, C. M. (2018). Hirschsprung Disease beyond Infancy. Clinics in Colon and Rectal Surgery, 31(2), 51–60. https://doi.org/10.1055/s-0037-1604034

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