Hirschsprung Disease

By M. Algi Shaugi

Hirschsprung disease

Hirschsprungs disease is the most common cause of lower intestinal obstruction in neonates A congenital absence of ganglion cells in both the submucosal (Meissner's) and myenteric (Auerbach's) plexuses

Incidence & Etiology

Cellular and molecular abnormalities during the development of enteric nervous system (ENS) and migration of neural crest cells into the developing intestine represent the primary etiology in HD INCIDENCE: 1\5000 live birth newborn 70-80% is boys. (M / F. 4: 1 )

most of cases have a family history of the disease.

patofisiology

In HD, the underlying pathophysiological feature is functional obstruction caused by a narrowed colon that hinders the propagation of peristaltic waves due to the absence of parasympathetic intrinsic ganglion cells. Absence of myenteric and submucosal nerve plexus -> affected gut is unable to relax -> functional bowel obstruction with dilatation of proximal bowel

KLASIFIKASI

Ultra short segment Short segment Long segment Very long segment

Clinical manifestation

Should be suspected in all infants who have not passed meconium within 48 hr of birth and in all infants with signs of bowel obstruction

Signs: constipation, abdominal distention, bilious emesis, diarrhea,FTT.

RT : explosive diarrhea

Diagnosis
History failure to pass meconium, painless abdomenal distension & constipation) Physical examinations
Distended abdomen with Multiple fecal masses on abdominal examination on DREcharacteristically there is

Anal sphincter is hypertonic Rectum is typically empty.

Hard fecal mass.

Radiology
1. 2.

Plain x-rays of the abdomen :Erect & supine Contrast Enema. Shows narrow distal segment,funnel-shaped dilatation at level of transition zone with marked dilatation of the proximal colon. 24-hrs delayed films is important in diagnosis; it shows poor emptying with barium throughout the colon, as opposed to the child with psychogenic stool holding in whom the barium generally collects in the distal rectosigmoid. contrast enema should be done with out preparation of bowel,

4.

Electromanometry :

not useful in neonate excellent screening tool in infant & children . The classic finding is the absence of the recto anal inhibitory reflex when the rectum is distended.
Rectal biopsy is the definitive diagnostic test and demonstrates absence of ganglion cells, nerve hypertrophy and stains indicating increased acetylcholinesterase activity. suction mucosal biopsy (at different levels ). Can be done without anesthesia full thickness biopsy is done under general anesthesia.

5.

Rectal biopsy :

6.

UltraSonography: for associated anomalies.

Definitive procedures: Once the child has reached an adequate size and age (6-12 months;
20 pounds or more), a formal pull-through procedure is done

1.

Open surgery :

There are many surgical options for Pull-through operation. All aiming at resection of aganglionic segment and anastomosing the two normal ganglionic ends. They give excellent result in 90%.

a.swenson. b.soave. c.Rehbein. d. Duhamel.

2.

LAPAROSCOPY .

Swensons procedure

Excision of the rectum distal anterior and posterior, then performed anastomose end to end with the proximal colon

Duhamels procedure

fascinating the ganglionic colon proximal to aganglionik rectum posterior wall with anastomose end to side

Soave procedure

aganglionic rectal mucosa discard, then fascinating the ganglionic proximal colon breakthrough entry into the lumen of the rectum that has been peeled

complication

Enterocolitis post operatif Persistant Constipation and stricture anastomosis