Hirschsprung Disease (congenital megacolon) Presented by: Dr ALI ABDULLA HAIDAN

HISTORY The first description of a child with Hirschsprung's disease appeared in the eighteenth century by Domenico Battini. Description of a typical child with congenital megacolon was published after Battini's death in 1800 . In 1886, Harald Hirschsprung, a Danish pathologist, described several cases of the condition that ultimately carried his name.

ETIOLOGY Abnormalities in Neural Crest Cell Migration Association with inheritance abnormality in chromosome 10 in some patients. RET- protooncogene Autosomal dominant in totally agangloinic bowel. Commonly associated with Down syndrome

Syndromes and Genetic Abnormalities Commonly Associated with Hirschsprung's Disease. Trisomy 21 Neurocristopathy syndromes    Waardenberg-Shah syndrome    Yemenite deaf-blind-hypopigmentation    Piebaldism    Other hypopigmentation syndromes Endothelin and SOX-10 Goldberg-Shprintzen syndrome SIP1? Multiple endocrine neoplasia 2 RET

Hirschprung’s Disease Incidence : 1 in 5000 live birth 80 % of patients are males

Pathology The primary defect is the absence of the intramural ganglion cells of the submucosal and myenteric plexuses as the result of a defective migration of ganglion cell precursors of the neural crest into the hind gut.

Pathology Aganglionosis is restricted to the rectum and sigmoid colon in 75% of patients . extends more proximally in 15-20% . and affects the entire colon and a variable length of ileum in 8%. Rarely, ganglion cells are absent from most of the gastrointestinal tract.

It does not only affects cholinergic neurons but also non-adrenergic, non-cholinergic neurons Which use nitric oxide as their chemical messenger.

This absence of normal parasympathatic innervation prevents gut peristalsis, leading to functional constipation. The proximal colon hypertrophied by trying to overcome functional obstruction. Transitional zone exists between normal and abnormal aganglionic intestine.

Thus failure of the internal sphincter to relax with rectal distention is pathognomonic. Acetylcholine concentrations in aganglionic segments are threefold lower than in ganglionic segments.

Visible transitional zone in mid-sigmoid colon.

Visible transitional zone

Gross photograph (of another patient) of a distal colonic segment resected for Hirschsprung disease. Note the dilated, proximal portion separated from the constricted distal portion by a transition zone.

Clinical diagnosis Approximately 50% to 90% of children with Hirschsprung's disease present during the neonatal period Symptoms within the first week of life Include failure to pass meconium within 48 hours, Reluctance to feed, bilious vomiting, Abdominal distention, They may be confused with obstruction from meconium ileus, ileal atresia.

Clinical diagnosis Only 15% are diagnosed in the first month of life, but two thirds are in the first 3 months. Cases beyond 5 years of age usually have ultra- short segment disease.

Clinical diagnosis Explosive liquid stools, fever, and severe prostration are indicative of enterocolitis. Enterocolitis is rare (10%) in the first month but rises to 33% in the second and third months. Recall that diarrhea may be a late sign. Chronic Constipation Some children are able to manage through the neonatal period and present later with chronic constipation.

Diagnosis should be suspected on rectal exam when the rectal vault is found devoid of stool and the anal canal feels narrow with increased tone.

Work up and investigations The appropriate diagnostic approach may vary, depending on the age of the patient and the presenting clinical picture. After a careful history and physical examination, the diagnostic steps may include radiographic studies, anorectal manometry, and rectal biopsy.

KUB often shows gaseous distention, in the neonate absence of gas in the pelvis is suggestive.

A supine abdominal film from the first day of life shows multiple dilated loops of proximal small bowel.

A left lateral decubitus film from the second day of life demonstrates multiple dilated loops of bowel and a low bowel obstruction.

A Cysto-Conray enema was performed on the second day of life A Cysto-Conray enema was performed on the second day of life. An AP view taken during the study demonstrates a transition zone in the mid sigmoid colon with the rectum and distal sigmoid being narrower in caliber that the rest of the colon, as evidenced on a lateral film from the study.

FIGURE 86-1. (A) Contrast enema demonstrating a classic rectosigmoid transition zone in Hirschsprung's disease. (B) Lateral view of rectum illustrates typical distal spasm of rectim. (Adapted from Sato T, Oldham K. Pediatric abdomen. In: Greenfield LJ. Surgery: scientific principles and practice, 3rd ed. Philadelphia: Lippincott Williams & Wilkins, 2001:2001, with permission.)

FIGURE 86-2. The anorectal inhibitory reflex FIGURE 86-2. The anorectal inhibitory reflex. Distension of the rectum with a balloon results in a reflex relaxation of the internal anal sphincter in a normal individual. In a child with Hirschsprung's disease, there is no reflex relaxation.

The acetylcholinesterase stained section illustrates the increase in positively (darkly) staining fibers within the lamina propria and muscularis propria which, in the absence of ganglion cells, is diagnostic of Hirschsprung disease.

Complications Complications of Hirschsprung`s disease include: Water intoxication results from the use of tap water enemas. There may be hypertonic dehydration from saline enemas.

Complications Intestinal perforation (particularly at the appendix) Enterocolitis, Malnutrition, failure to thrive, and anemia.

Treatment

Treatment Swenson - proctolectomy Duhamel --posterior pull-through with side to side anastomosis to angangolionic rectum Soave -- pull ganglionated bowel through sleeve of rectum

Operative photograph showing a sleeve rectal mucosectomy being performed down to the anus.

Post-operative Complications Early : Anastomotic leak Infection Late : Obstruction Enterocolitis Incontinence

Operative photograph shows the rectal mucosal sleeve everted and hanging from the anus onto the blue towel as well as the normal colon "pulled through" in preparation for anastomosis to the anus.

OUR EXPERIENCE 12 cases operated in the period 2006-2010 10 of them were males and 2 of them were female. Their age 8 months-6 years. 4 of them with previous colostomy. 1 case develop incontinence. 1 case develop severe entrocolitis not respond to conseravative therapy,but improved after colostomy.

Thank you 4 your kind Attention