Hirschsprung Disease

Imaging
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Overview

The first report: of a Hirschsprung disease (HD) in

1691 by Frederick Ruysch,
Danish pediatrician Harald Hirschsprung who in
1888 published the classic description of
congenital megacolon. [1]
HD is characterized by the absence of myenteric
and submucosal ganglion cells (Auerbach and
Meissner plexuses) along a variable length of the
distal gastrointestinal tract. [2]
Epidemiology

1 case per 5,000 live births in the United

States. [4]
1.5 cases per 10,000 live births in whites,
2.1 cases per 10,000 live births in Americans,
and
2.8 cases per 10,000 live births in Asians.
Males are affected more than females by a
ratio of 4:1. [4]
Anatomy
Classified by the extension of the aganglionosis:

Classic short-segment HD (75% of cases)

- Aganglionic segment does not extend
beyond the upper sigmoid

Long-segment HD (20% of cases)

Total colonic aganglionosis (3-12% of

cases)
Clinical details

Delayed passage of meconium (>24 h after birth)

Abdominal distension that is relieved by rectal stimulation
or enemas
Vomiting
Newborns Neonatal enterocolitis

Severe constipation
Chronic abdominal distension
Vomiting
Older children Failure to thrive [6]
and adult
Differentials

Intestinal Neuronal Dysplasia

Meconium Ileus
Meconium Plug Syndrome Imaging
Pediatric Constipation
Small Left Colon Syndrome
Intervention

Surgical
Preferred technique

Manometry

The rectal manometry is complementary to

barium enema examination and has an accuracy
of 75%. It shows an absence of normal relaxation
of the internal sphincter, with a reduction in the
intraluminal pressure in the anal canal when the
rectum is distended with a balloon.
 Biopsy

The predictive value of biopsy is essentially

100% in excluding HD if ganglion cells are
present.
Radiography

Hirschsprung disease. Frontal abdominal radiograph

showing marked dilatation of the small bowel with no gas
in the rectum.
 Hirschsprung disease. Frontal abdominal radiograph showing
marked dilatation of the bowel with no gas in the rectum. In the
sitting position, air-fluid levels in the large bowel are seen.
Hirschsprung disease. Lateral abdominal radiograph shows
a very enlarged, stool-filled sigmoid. No air or stool content
is seen in the rectum.
Hirschsprung disease. Plain abdominal radiograph showing
dilatation of the transverse colon and mucosal edema (toxic
megacolon).
Hirschsprung disease. Barium enema technique shows slow
contrast-material infusion.
Hirschsprung disease. Lateral view from a barium enema
examination depicting the reduced diameter of the
rectum and sigmoid.
Hirschsprung disease. Barium enema showing reduced caliber of
the rectum, followed by a transition zone to an enlarged-caliber
sigmoid.
 Hirschsprung disease. Barium enema showing reduced
caliber of the rectum, followed by a transition zone to an
enlarged-caliber sigmoid.
Hirschsprung disease. A 24-hour-delayed radiograph obtained
after a barium enema examination shows retention of barium
and stool in the rectum. This is associated with a dilated stool-
filled sigmoid.
Hirschsprung disease. Barium enema showing reduced
caliber and length of the large bowel, with no clear
transition zone (total colonic aganglionosis).
Hirschsprung disease. Barium enema showing a reduced-
caliber rectum and dilated large-bowel loops with an
irregular mucosal contour (dyskinesia).
Computed Tomography

CT scan is not usually indicated.

Magnetic Resonance
Imaging

MRI is not usually indicated.

Ultrasonography

Ultrasonography revealed the same pattern

that is observed in a barium enema
examination, that is, a dilated sigmoid
narrowing to a narrow rectum. [24]
Ultrasonography may also help in
determining the dynamic or adynamic state
of fluid- or solid-filled bowel loops.
TERIMA KASIH