Hirschsprung

Disease
Nitasha Prasad
S120258
 Epidemiology
• Males more than females
• 1 in 5000 births
• Mostly (90%) seen in full term babies
• 5% in pre-terms
• 5% in those with Fhx
What is HD?
• condition that affects the large intestine either a part or whole of it.
• causes problems with passing stool.
• The condition is present at birth (congenital) as a result of missing
nerve cells in the muscles of the baby's colon.
• caused by congenital absence of ganglionic cells in the myenteric
and submucosal plexus.
• Most common cause of intestinal obstruction in neonates.
• areas missing the nerve cells rectum and the sigmoid colon, mostly.
• However, some children are missing the nerve cells for the entire colon or
part of the small intestine.

• In short-segment Hirschsprung disease, nerve cells are missing from the last part of
the large intestine.

• In long-segment Hirschsprung disease, nerve cells are missing from most or all of
the large intestine and sometimes the last part of the small intestine.

• Rarely, nerve cells are missing in the entire large and small intestine.

In a child with Hirschsprung disease, stool moves through the bowel until
it reaches the part lacking nerve cells. At that point, the stool moves
slowly or stops.
Pathophysiology
 pathophysiology
• Hirschsprung disease 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.
• These ganglion cells arrive in the proximal colon by 8 weeks
gestation and in the rectum by 12 week gestation.
• Arrest in migration leads to an aganglionic segment.
• This results in clinical Hirschsprung disease.
 Aetiology
•Several genes have been identified, one of which is on the X
chromosome, and thus may explain the male predominance.

•Associated with Down’s Syndrome – 15-30% of Hirschsprung’s are in

Down’s patients, and Hirschsprung’s occurs in 8% of Down’s patients

•Gene mutation (RET & EDNRD)

Neonates
Clinical manifestations
•Usually presents in neonatal period
•Failure to pass meconium within 48 hours of birth or Delayed passage of
meconium (>24h)
•Abdominal distension
•Vomiting – may include bile staining (greenish brown)

•½ of all Hirschsprung’s patients don’t pass meconium within 36h

•½ of all children with delayed passage of meconium have Hirschsprung’s
disease
• explosive stools after a doctor inserts a finger into the newborn’s rectum
• Infants and older children

• Chronic constipation, often

resistant to usual treatment
• Failure to thrive
• Abdominal distension
• Early satiety
Case work up
• Plain Film
     
• Abdominal xray may reveal dilated colon proximal to affected segment with paucity
of rectal air
• Barium enema demonstrates a narrow segment with abrupt transition to
dilated segment
• Anorectal manometry – PPV 75-95% but less accurate in infants <1 month;
Lack of relaxation of internal anal sphincter and distension of the bowel are
suggestive of Hirschsprung Disease.
• Full-thickness rectal biopsy (2-3 cm above anal verge) demonstrating
absence of ganglion cells is diagnostic
treatment
• Medical
• Supportive
• Hydration
• Stabilization
• Post surgery care  diet

• Surgical
• Resection
complications
Enterocolitis
• Can occur before or after surgery.

Symptoms of enterocolitis may include;

• a swollen abdomen
• bleeding from the rectum
• diarrhea
• fever
• lack of energy
• vomiting
Prognosis

• Most children acquire faecal continence and normal bowel habits but
a number of older children still have ongoing continence problems.
Unsurprisingly, acquirement of faecal continence is associated with an
improvement in quality of life.
• A study followed over 300 patients after surgery for Hirschsprung's
disease, over 8-20 years. Although satisfactory results were achieved
in most, some continued to have abnormal colonic motility and
problems with the internal anal sphincter.
• The prognosis with Down's syndrome is less favourable and some
people recommend permanent colostomy.
summary
 References

• OP ghai
• Medscape
• Slideshare
• osmosis
• Upto date