Prepared By

MAGED ZAKARIANICU RESIDENT

Hirschsprung Disease

In 1886, Harold Hirschsprung first

described Hirschsprung disease

(congenital aganglionic megacolon) as a

cause of constipation in early infancy.

Background

Early recognition and surgical correction of Hirschsprung disease

protects affected infants from enterocolitis and

debilitating constipation.

Background

HD results from the absence of enteric neurons within the myenteric and submucosal plexus of the rectum and/or colon. 

Enteric neurons are derived from the neural crest and migrate caudally with the vagal nerve fibers along the intestine.

Pathophysiology

These ganglion cells arrive in the proximal colon by 8 weeks' gestation and in the rectum by 12 weeks' gestation.

Arrest in migration leads to an aganglionic segment. An obstruction occurs at the point of aganglionosis as peristalsis cannot progress beyond this point.

Pathophysiology

1 in 5000 live birth (in the US)

Male : Female Ratio 4 : 1

+ve Family History in 30% of cases

Frequency

The overall mortality of Hirschsprung enterocolitis is 25 – 30 % (almost accounts for all of the mortality from the disease).

Mortality

1. Abdominal distention.2. Delayed passage of meconium (> 48 hours of

life).3. Repeated vomiting.4. Tympanitic abdominal distention.5. Intestinal obstruction.6. Acute Enterocolitis.7. Meconium plug Syndrome.

Nearly one half of infants with delayed first passage of meconium have Hirschsprung disease.

Presentation in the Neonatal Period

1. Down syndrome (5–15%)

2. Waardenburg syndrome

3. Congenital deafness

4. Malrotation, Gastric diverticulum or Intestinal atresia.

5. Urogenital abnormalities.

6. Cardiovascular abnormalities.

Associated Disorders

CBC with differential count: if enterocolitis is suspected.Plain abdominal radiography.Unprepared contrast enema (If perforation and

enterocolitis are not suspected): 1. A transition zone between a narrowed aganglionic

segment and a dilated and normally innervated segment.

2. Non-distensible rectum. A transition zone may not be apparent in neonates,

because of insufficient time to develop colonic dilation, or in infants who have undergone rectal washouts, examinations, or enemas.

If enterocolitis is present, the colon will appear dilated and there may be pneumotosis.

Investigations

Abdominal radiograph

demonstrating small bowel obstruction

and megacolon in

infant with Hirschsprung

Disease

Plain Abdominal X-ray

Contrast enema demonstrating transition zone.

The transition zone shows the transition

from dilated, normally innervated

bowel to normal caliber, non-

innervated bowel.

Contrast Enema

Lateral view from a

contrast enema

examination showing the

reduced diameter of the rectum and sigmoid colon in HD

Contrast Enema

Contrast enema

showing reduced

caliber of the rectum,

followed by a transition zone to an enlarged-

caliber sigmoid colon

Contrast Enema

Frontal abdominal radiograph

showing marked

dilatation of the bowel with no

gas in the rectum.

Plain Abdominal X-ray

In the sitting

position, air-fluid levels in the large

bowel are seen

Plain Abdominal X-ray

Rectal manometry:• Helpful In older children who present with

chronic constipation and an atypical history.• Children with HD fail to demonstrate reflex

relaxation of the internal anal sphincter in response to inflation of a rectal balloon.

Investigations

The definitive diagnosis of Hirschsprung

disease rests on histological review of rectal

tissue by rectal suction biopsy or transanal

wedge resection.

Investigations

If presented with intestinal obstruction, initial therapy should include:1. Intravenous hydration2. Withholding of enteral intake3. Gastric decompression through a NG tube4. Request surgical consultation.5. Intestinal decompression through either

digital rectal examination or normal saline rectal irrigations 3-4 times daily.

Broad-spectrum antibiotics with enterocolitis.

Medical Care

The Operative Options:

1. Definitive Repair as soon as the diagnosis is established

2. Temporary colostomy until the infant is 6–12 mo old to perform definitive repair.

Surgical Care

The 1st successful surgical procedure, described by Swenson, was to excise the aganglionic segment and anastomose the normal proximal bowel to the rectum 1–2 cm above the dentate line.

The operation is technically difficult.

Surgical Care

Duhamel described a procedure to create a

neorectum, bringing down normally innervated

bowel behind the aganglionic rectum.

The neorectum created in this procedure has an

anterior aganglionic half with normal sensation and

a posterior ganglionic half with normal propulsion.

Surgical Care

The endorectal pull-through procedure described by Boley involves stripping the mucosa from the aganglionic rectum and bringing normally innervated colon through the residual muscular cuff, thus bypassing the abnormal bowel from within.

Advances in techniques have led to successful laparoscopic endorectal pull-through procedures, which are the treatment of choice.

Surgical Care

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