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Hirschsprung Disease Imaging INDAH RIA SAFITRI 030.12.125

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

Newborns

Older children and adult

• Delayed age of meconium (>24 h after birth) • Abdominal distension that is relieved by rectal stimulation or enemas • Vomiting • Neonatal enterocolitis

• • • •

Severe constipation Chronic abdominal distension Vomiting Failure to thrive [6]

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 stoolfilled 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 reducedcaliber 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