Fact-sheet: Hirschprung disease
Updated on 04/20/2018 at 5:59 PM
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Definition
Congenital anomaly of development of the neuroganglionic cells of the myenteric plexuses of Meissner and Auerbach in the colon, described by Hirschsprung in 1887
- Most often affects male infants (80%)
- Incidence: 1/100,000 births.
- Detected in 80% of cases during the neonatal period or infancy.
Clinical features
- Full-term infant of normal weight,
- Delayed meconium passage of 24 to 48 hours (found in 85% of cases)
- Mild digestive symptoms: feeding difficulties, constipation, abdominal distension.
- In more severe forms, two presentations dominate the clinical picture: low intestinal obstruction or enterocolitis.
"Any enterocolitis in a full-term newborn should raise suspicion of Hirschprung disease until proven otherwise"
- In infants and young children: constipation with obstructive episodes or diarrhea.
Radiography
Plain abdominal radiograph:
- The only direct sign of the condition is visibility of a small-caliber rectum (rare)
- Air-free rectum ++
- Meconium or fecal residues
- Small bowel and colonic distension
- Inconsistent air-fluid levels
- Fecal impaction with colonic distension in older children
Contrast enema:
- Rectosigmoid location +++ 80% of cases: Calculation of the rectosigmoid index (ratio between the maximal rectal diameter and the maximal sigmoid diameter).
- < 1 in Hirschprung disease
- Transition zone ++ abrupt caliber discrepancy between the dilated proximal colon (healthy) and the narrow distal colon (diseased)
- Disorganized contractions of the affected colonic segment, corrugated appearance
- Delayed evacuation of contrast material on delayed images at 48 hours
Management
- Curative treatment remains exclusively surgical
- Aims to resect the aganglionic segment.
Differential diagnosis
- Functional immaturity = small left colon syndrome
- Colonic atresia
- Achalasia of the internal sphincter
