Hirschprung’s Disease

Question 1

Define

Answer 1

Congenital condition characterised by partial or complete colonic functional obstruction associated with absence of ganglion cells

Question 2

Causes

Answer 2

This is a condition characterised by the absence of ganglion cells from the myenteric and submucosal plexuses (Meissner’s and Auerbach’s) of the large bowel

This results in a narrow and contracted segment of the large bowel

The region of the abnormal bowel will extend from the rectum for a variable distance proximally

The region of abnormal bowel will end up with a normally innervated, dilated colon

In 75% of cases, the lesion is confined to the rectosigmoid

In 10% of cases, the entire colon is affected

Associated with Down’s syndrome

M > F

Caucasians are more likely

Question 3

Clinical presentation

Answer 3

In the neonatal period:** intestinal obstruction **
* Failure to pass meconium within the first 24 hours of life
* PASSAGE OF MECONIUM AFTER 48 HOURS IS A RED FLAG
* Abdominal distension
* Bile-stained vomiting
* Rectal examination- narrowed segment and withdrawal of the examining finger often releases a gush of liquid stools and flatus

Life-threatening Hirschsprung enterocolitis during the first few weeks of life (sometimes due to C. difficile infection)

In later childhood: **chronic constipation **

• Usually profound
• Abdominal distension, but usually WITHOUT soiling.
• Signs of growth failure

AVOID ENEMAS if systemically unwell as perforation may be present, and an enema may lead to worse peritonitis

Question 4

Investigations

Answer 4

1. Abdominal examination
2. Basic observations
3. AXR

If there are a few dilated loops of bowel seen on an X-ray, the obstruction will be proximal e.g. malrotation, jejunal atresia. 

If there are multiple dilated loops of bowel seen on an abdominal film of a patient who has not passed meconium, the patient is likely to have a more distal obstruction e.g. ileal atresia, meconium ileus or plug, Hirshsprung’s or anal atresia.

DEFINITIVE DIAGNOSIS–> rectal biopsy: absence of ganglion cells and presence of large acetylcholinesterase-positive nerve trunks on a suction full thickness rectal biopsy

First examination: AXR and GI contrast enema (barium studies)/ Anorectal manometry are useful to show the length of the aganglionic segment

dilated distal segment + narrowed proximal segment

Question 5

Management

Answer 5

Initial management- bowel irrigation
* Performed before surgery to help prevent enterocolitis

SURGICAL- Anorectal Pull-Through
* Usually involves an initial colostomy followed by anastomosing normally innervated bowel to the anus
* This is definitive surgical treatment done either trans-anally or with laparoscopic assistance

Total colonic agangliosis would require initial ileostomy with later corrective surgery

Question 6

Complications

Answer 6

• Ischaemic enterocolitis
• Post-operative enterocolitis, constipation or diarrhoea
• Duhamel-related rectal pouch
• Faecal incontinence- surgically-related or pseudo
• Meconium plug syndrome
• Hirschsprung’s enterocolitis (perf colon)

marked by proximal colonic dilatation secondary to obstruction, with thinning of the colonic wall, bacterial overgrowth, and translocation of gut bacteria.

It occurs most commonly in the first few months of life; it can also occur post-operatively.

Infants present with fever, abdominal distension, and bloody diarrhoea.

Shock and death can follow rapidly.

Initial treatment is supportive with fluid resuscitation, decompression with NG and rectal tubes, and broad-spectrum antibiotics (including anaerobic coverage).

Surgery is the definitive treatment.

Prognosis
* Rectosigmoid disease outcome is good
* Soiling is usually treatabl