Hirschsprung disease

Newborn with
failure to pass meconiumAP and lateral views from an enema shows the rectum and sigmoid colon to be smaller in diameter than the rest of the colon.The diagnosis was Hirschsprung disease.
pediatricimaging.org • CC-by-nc-sa 4.0
Infant with
decreased stool output and fever. AXR AP (above) shows an obstructive bowel gas pattern with multiple dilated loops of small bowel. AP image from an enema (below left) shows the contour of the entire colon to have an irregular, serrated appearance. The terminal ileum was refluxed. Lateral image from the enema (below right) shows the diameter of the rectum to be less than the diameter of the sigmoid colon (recto-sigmoid inversion).The diagnosis was Hirschsprung disease with concomitant Hirschsprung enterocolitis.
pediatricimaging.org • CC-by-nc-sa 4.0
Morbus
Hirschsprung im Erwachsenenalter mit chronischer Distension des Kolonrahmens.
Wikipedia • CC BY-SA 4.0
Newborn with
bilious vomiting and a normal upper GI exam. Lateral image from an enema (right) shows the caliber of the rectum to be slightly narrower than the caliber of the sigmoid colon in the center of the AP image of the enema (left) although no definite transition zone was observed. The remainder of the colon was of a normal caliber.The diagnosis was total colonic Hirschsprung disease.
pediatricimaging.org • CC-by-nc-sa 4.0
Blowhole
tangential cecostomy and transanal tube insertion for neonatal cecal perforation in a patient with Hirschsprung’s disease in the earlier definitive operation era. Management by transanal tube
surgicalcasereports.springeropen.com • CC-by-4.0
Blowhole
tangential cecostomy and transanal tube insertion for neonatal cecal perforation in a patient with Hirschsprung’s disease in the earlier definitive operation era. Gastrografin contrast enema: caliber change in the transverse colon (arrow)
surgicalcasereports.springeropen.com • CC-by-4.0
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
Wikipedia • CC BY 2.0
Extreme
coprostatis in a case of Hirschsprung disease. The stagnant faecal mass in the sigmoid almost fills the entire lower abdomen. The patient had only very few symptoms.
www.eurorad.org • CC by-nc-sa-4.0
Infant with
difficulty stooling. Lateral image from an enema shows that the rectum is narrower in diameter than the sigmoid colon. The recto-sigmoid ratio is < 1, thus there is recto-sigmoid inversion. The sigmoid colon is packed with stool.The diagnosis was Hirschsprung disease.
pediatricimaging.org • CC-by-nc-sa 4.0
nicht verwechseln mit: Analatresie
Radiopaedia • CC-by-nc-sa 3.0 • de

Hirschsprung disease is the most common cause of neonatal colonic obstruction (15-20%). It is commonly characterized by a short segment of colonic aganglionosis affecting term neonates, especially boys.

Epidemiology

Hirschsprung disease affects approximately 1:5000-8000 live births. In short segment disease, there is a significant predilection for males (M:F of ~3.5:1), which reduces with increasing length of involvement . Interestingly, it is almost never seen in premature infants.

Clinical presentation

The condition typically presents in term neonates with failure to pass meconium in the first 1-2 days after birth, although later presentation is also common. Overall ~75% of cases present within six weeks of birth and over 90% of cases present within the first five years of life. A very small number may present in the adult population .

In cases of delayed presentation with anorectal constipation, manometry may be useful in distinguishing short/ultrashort segment Hirschsprung disease from other causes .

A definitive diagnosis requires a full-thickness rectal biopsy (2 cm above the dentate line as the region below the dentate line is normally aganglionic)

Pathology

Hirschsprung disease is characterized by aganglionosis (absence of ganglion cells) in the distal colon and rectum. It is thought to either occur from a failure of neuroblasts in neural crest cells to migrate into bowel segments or degeneration of already migrated neuroblasts. It affects cells both in the myenteric and submucosal plexuses . Hence, functional obstruction develops as a result of a spasm in the denervated colon.

It can be anatomically divided into four types according to the length of the aganglionic segment:

* see notes on percentages

It is postulated that hypoganglionosis (reduced number of ganglion cells) handles intestinal pseudo-obstruction .

Associations

Although Hirschsprung is an isolated abnormality in 70% of cases, there are some well-documented associations, including :

Radiographic features

Plain radiograph

Findings are primarily those of a bowel obstruction. The affected bowel is of smaller caliber and thus depending on the length of segment affected variable amounts of colonic distension are present.

In protracted cases, marked dilatation can develop, which may progress to enterocolitis and perforation.

Fluoroscopy

A carefully performed contrast enema is indispensable in both the diagnosis of Hirschsprung disease and in assessing the length of bowel involvement. No bowel preperation is needed prior to contrast enema. Barium suspension is made with normal saline to avoid fluid absorption by large surface area of dilated colon. It should be noted, however, that the depicted transition zone on the contrast enema is not accurate at determining the transition between absent and present ganglion cells.

The affected segment is of small caliber with proximal dilatation. Fasciculation/saw-tooth irregularity of the aganglionic segment is frequently seen. Additionally, delayed evacuation of the administered contrast medium.

Views of particular importance include:

  • early filling views that include rectum and sigmoid colon allowing for rectosigmoid ratio to be determined.
  • transition zone
Antenatal ultrasound

Treatment and prognosis

Surgical treatment is by removal of the affected portion of the colon. Where this is successful, the prognosis is good. However, in 3-4% of cases, colonic perforation complicates presentation and this and its sequelae significantly increase both mortality and morbidity. Mortality rates can be as high as 30% due to enterocolitis.

History and etymology

It was first described in 1888 by the Danish pediatrician Harald Hirschsprung (1830-1916) .

Differential diagnosis

General differential considerations include

Siehe auch:
und weiter:
Assoziationen und Differentialdiagnosen zu Morbus Hirschsprung:
Nekrotisierende
Enterokolitis
pediatricimaging.org • CC-by-nc-sa 4.0
ASP-Assoziation
 
aops.springeropen.com • CC-by-4.0
toxisches
Megakolon
Wikipedia • CC BY-SA 3.0
Morbus
Hirschsprung und Schwangerschaft
jmedicalcasereports.biomedcentral.com • CC-by-2.0