Sunday, March 10, 2013

Hirschsprung Disease: Short Notes

Disease caused by absence of ganglions in the myenteric (Auerbach) and submucosal (Meissner) plexus causing functional intestinal obstruction.

Long-segment Hirschsprung: Aganglionic bowel proximal to midtransverse colon 

Embryology and Etiology

Ganglion cells originate from the neural crest tissues by 13 weeks postconception from proximal to distal GIT.

2 theories:
  • Failure of migration of neural crest tissues.
  • Failure of migrated ganglionic cells to mature and proliferate
 Mutation of RET proto-oncogenes

Associated Syndromes

Down syndrome
Neurocristopathy syndromes (ie. Waardenberg-Shah syndrome)
Malrotation
Congenital heart disease
Urinary tract anomalies
Central nervous system anomalies
Congenital central hypoventilation syndrome (Ondine curse)

Clinical Features

Neonates:
  • Delayed passage of meconium after 24 hours
  • Abdominal distension
  • Bilious vomiting
  • Feed intolerance
- Chronic constipation
- Diarrhea, fever, abdominal distension (Hirschprung-associated enterocolitis [HAED])


Investigations

Radiographic
- Abdominal X-ray
- Barium enema

  • Transition zone between normal and aganglionic bowel
  • Reversed recto-sigmoid index (< 1.0)
Anorectal Manometry
  • Recto-anal inhibitory reflex (RAIR). Reflex that causes the internal anal spinchter to relax when the rectum is distended.
  • Balloon inserted into the rectum and inflated. If reflex present detected by sensor.
  • Test more useful with older children.
Rectal biopsy
  • Absence of ganglionic cell
  • Hypertrophied nerve trunk
  • Acetylcholinesterase staining
  • Absence of calcitonin on immunochemical testing with calretinin
Management

Resuscitation
  • Fluids
  • Nasogastric tube
  • Antibiotics
Operative

May be done through laparotomy or more popular, pull-through surgery via the anus.
  • Swenson (end-to-end anastamosis of the ganglionic segment with the internal anal sphincter. Rectum is excised)
  • Soave (As Swenson but rectum is preserved becoming the outer 'cuff' of the pulled ganglinic segment)
  • Duhamel (The ganglinic segment is joined to the rectum in a end-to-side anastamosis)
Colostomy to consider:
  • Enterocolitis
  • Perforated bowel
  • Very dilated proximal bowel
Surgery for Long-segment Hirschsprung:
  • Ileostomy
  • Small bowel pull-through to anastamose with the anal sphincter
  • Side-to-side anastamosis between small bowel and large bowel (to preserve absorptive roles). Several techniques: Martin and Kimura
 Post-op Care
  • Anal calibration 4 to 6 weeks
  • Buttock care with barrier cream to prevent perineal wound breakdown

  
 References:

1. Coran, Arnold G., et al., Pediatric Surgery, 7th Ed., Elsevier

Both pictures from http://radiopaedia.org/cases/hirschsprung-disease 

4 comments:

  1. very interesting my daughter who is 12 has Congenital Central Hypoventilation Syndrome however it was just found out that she also has HD.. crazy that even though we always knew she had CCHS it wasn't until 2 months ago we realized she also had HD

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    1. Thank you for the comment. I am very sorry about your daughter. I won't say that I understand you and your daughters plight but I have worked in the hospital to see so many dedicated mothers standing by their children through long nights, multiple surgeries, complications, and hope. It is your kind of hope that makes some doctors try to work harder for the best of those under our care. You must be a very strong mother indeed and I hope that you shall remain strong and be strong example to all mothers out there.

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