HIRSCHSPRUNG DISEASE 

Hirschsprung Disease (HD), also known as congenital aganglionic megacolon, is a birth defect characterized by the absence of ganglion cells in the distal portion of the large intestine. Ganglion cells are part of the enteric nervous system, and they help regulate peristalsis—the muscle contractions that move food and stool through the intestines. Without these nerve cells, the affected segment of the colon cannot relax, leading to intestinal obstruction and difficulty in passing stool.


PATHOPHYSIOLOGY:

During fetal development, neural crest cells migrate to form the enteric nervous system along the gastrointestinal tract. In HD, this migration is incomplete, resulting in a section of the bowel that lacks ganglion cells. The aganglionic segment remains in a constant state of contraction (spasm), causing a functional obstruction. The proximal bowel dilates from the accumulation of feces and gas, leading to megacolon.

CAUSES AND RISK FACTORS:

  • Congenital defect (present at birth) 
  • Genetic associations:
  • Often sporadic, but may be inherited in an autosomal dominant or recessive pattern
  • Associated with Down Syndrome (Trisomy 21)
  • More common in males than females (4:1 ratio)
  • Family history increases risk

 TYPES OF HIRSCHSPRUNG DISEASE:

Short-segment HD – most common; only rectosigmoid colon is affected

Long-segment HD – aganglionosis extends beyond the sigmoid colon

Total colonic aganglionosis – rare; entire colon is involved


SIGNS AND SYMPTOMS:

In Newborns:

  • Failure to pass meconium within the first 24 to 48 hours after birth
  • Abdominal distension
  • Bilious vomiting
  • Reluctance to feed or poor feeding
  • Irritability

In Infants and Children:

  • Chronic constipation
  • Foul-smelling, ribbon-like stools
  • Abdominal bloating and pain
  • Poor weight gain or failure to thrive

DIAGNOSTIC TESTS:

Abdominal X-ray:

  • Shows dilated bowel loops and air-fluid levels

Contrast Enema (Barium Enema):

  • Identifies the transition zone (normal dilated colon above and narrow aganglionic segment below)

Anorectal Manometry:

  • Measures rectal muscle response and internal sphincter relaxation (used in older infants)

Rectal Suction Biopsy (Gold Standard):

  • Confirms absence of ganglion cells in the submucosa
  • May also show hypertrophied nerve trunks

Genetic testing may be done if a hereditary syndrome is suspected

MANAGEMENT AND TREATMENT:

Initial Management:

  • Bowel decompression using rectal irrigations
  • IV fluids and electrolyte replacement
  • Antibiotics if enterocolitis is suspected
  • NPO (nothing by mouth) status and nasogastric tube insertion

Definitive Treatment – Surgery:

Pull-through Procedure:

  • Surgical removal of the aganglionic section
  • The healthy, innervated bowel is pulled down and connected to the anus
  • Most common surgeries: Swenson, Soave, or Duhamel procedures

Temporary Colostomy:

  • Sometimes done if the child is unstable or has extensive disease
  • Colostomy allows bowel rest and prevents obstruction until final surgery

POSTOPERATIVE NURSING CARE:

  • Monitor vital signs closely, especially signs of infection or enterocolitis
  • Observe for abdominal distension, vomiting, or changes in bowel patterns
  • Wound care and monitoring for surgical site infection
  • If colostomy is present:
  • Educate family on stoma care and hygiene
  • Monitor stoma for color, output, and signs of infection or prolapse
  • Gradually reintroduce feeding and fluids
  • Support growth and nutrition with high-fiber foods (after surgical healing)
  • Provide emotional support to the family and include them in care decisions

COMPLICATIONS:

  • Enterocolitis: most serious complication; can occur before or after surgery
  • Symptoms: sudden fever, foul-smelling diarrhea, abdominal tenderness, lethargy.
  • Requires immediate treatment with IV fluids, antibiotics, and bowel rest
  • Bowel obstruction or perforation
  • Incontinence or constipation after surgery (may improve with time)
  • Anastomotic stricture or leak

NURSING DIAGNOSES (Examples):

  • Impaired bowel elimination related to lack of peristalsis
  • Risk for fluid volume deficit related to vomiting and poor intake
  • Risk for infection related to possible enterocolitis or post-op status
  • Imbalanced nutrition: less than body requirements
  • Parental anxiety related to child’s condition and surgery

HEALTH TEACHING AND FAMILY EDUCATION:

  • Educate about signs of enterocolitis and when to seek help
  • Demonstrate rectal irrigation techniques if needed preoperatively
  • Teach colostomy care and hygiene (if applicable)
  • Emphasize importance of regular follow-up and nutritional support
  • Discuss expected outcomes and possible long-term bowel management

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