Hirschsprung Disease

Content of This Page

1- Introduction

2- Causes

3- Symptoms

4- Complications

5- Prognosis

6- Treatment

Introduction

Hirschsprung disease is a congenital disorder of the colon characterized by the absence of ganglion cells in the distal bowel, leading to a functional intestinal obstruction. The condition results from the failure of neural crest cells to migrate completely during intestinal development, affecting the myenteric (Auerbach) and submucosal (Meissner) plexuses. Without these ganglion cells, the affected bowel segment cannot relax, causing a narrowed, non-peristaltic segment and a buildup of stool in the proximal colon, which becomes dilated (megacolon).

Hirschsprung disease most commonly involves the rectosigmoid colon but can affect longer segments or, rarely, the entire colon. It typically presents in newborns with failure to pass meconium within the first 48 hours, abdominal distension, and bilious vomiting. In milder or short-segment forms, symptoms may not appear until later in infancy or childhood.

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Causes

1. Genetic Mutations

  • Mutations affect genes involved in neural crest cell development and migration, including:

    • RET proto-oncogene (most common, especially in familial cases)

    • EDNRB (Endothelin receptor type B)

    • EDN3 (Endothelin-3)

    • GDNF (Glial cell line-derived neurotrophic factor)

    • SOX10, PHOX2B, and others

2. Inheritance Patterns

  • Most cases are sporadic

  • Familial cases account for ~5%–20%

    • May follow autosomal dominant or recessive inheritance with variable penetrance

  • Higher risk among first-degree relatives

3. Associated Conditions

  • Down syndrome (Trisomy 21) — present in ~10% of Hirschsprung cases

  • Other syndromes: Waardenburg syndrome, Multiple endocrine neoplasia type 2 (MEN2), Congenital central hypoventilation syndrome (CCHS)

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Symptoms

-In Newborns:

  • Failure to pass meconium within 48 hours of birth (key early sign)

  • Abdominal distension

  • Bilious vomiting

  • Poor feeding

  • Signs of neonatal intestinal obstruction

  • May develop Hirschsprung-associated enterocolitis (fever, diarrhea, sepsis)

-In Infants and Children:

  • Chronic constipation (often starting shortly after birth)

  • Abdominal bloating and distension

  • Poor weight gain or failure to thrive

  • Explosive passage of stool after digital rectal examination

  • Recurrent enterocolitis (diarrhea, fever, vomiting, lethargy)

-In Milder (Short-Segment) Cases:

    • Delayed diagnosis (late infancy or childhood)

    • Symptoms may mimic functional constipation but are refractory to laxatives

Complications

1. Hirschsprung-Associated Enterocolitis

  • Most common and serious complication

  • Symptoms: fever, explosive diarrhea, abdominal distension, vomiting, lethargy

  • Can progress to toxic megacolon, sepsis, or shock

  • Requires urgent medical treatment

2. Intestinal Obstruction

  • Due to inability of the aganglionic segment to relax

  • May result in severe distension, vomiting, and risk of perforation

3. Bowel Perforation

  • A life-threatening emergency

  • Results from high intraluminal pressure in the dilated bowel

4. Failure to Thrive

  • Due to poor feeding, chronic constipation, and malabsorption

5. Chronic Constipation and Incontinence

  • May persist after surgical correction due to:

    • Incomplete resection

    • Dysfunction of the remaining bowel

    • Internal anal sphincter dysfunction

6. Strictures or Anastomotic Complications (Post-surgery)

  • May cause recurrent obstructive symptoms

  • Can require further surgical intervention

7. Psychosocial Impact

  • Chronic symptoms can lead to anxiety, poor self-esteem, or social difficulties, especially in older children

Prognosis

-Good Prognosis Factors:

  • Short-segment disease (most common type)

  • Early surgical intervention (typically in infancy)

  • Absence of major complications such as enterocolitis or perforation

  • No significant associated syndromes

-Post-Surgical Outcomes:

  • Most children achieve normal or near-normal bowel function after surgery

  • Some may experience temporary issues like constipation, soiling, or fecal incontinence, especially in the early postoperative period

-Long-Term Considerations:

  • Up to 10–20% may have persistent bowel dysfunction (e.g., constipation or fecal incontinence)

  • Risk of recurrent enterocolitis even after surgery, particularly in the first few years

  • Growth and development usually normalize with effective treatment and nutrition

-Prognosis in Long-Segment or Total Colonic Aganglionosis:

  • More complicated course

  • May require multiple surgeries and long-term nutritional support

  • Increased risk of chronic bowel dysfunction

Treatment

1. Surgical Treatment (Definitive)

  • Pull-through Procedure (mainstay)

    • The Aganglionic segment is resected, and healthy ganglionated bowel is brought down to the anus.

    • Common types:

      • Swenson procedure

      • Soave procedure

      • Duhamel procedure

  • Staged Surgery (in severe cases)

    • Initial diverting colostomy or ileostomy if there is:

      • Severe enterocolitis

      • Bowel perforation

      • Massive distension

    • Followed by definitive pull-through surgery later

2. Preoperative Management

  • Bowel decompression with rectal irrigations

  • Management of fluid and electrolyte imbalances

  • Treatment of enterocolitis, if present (IV fluids, antibiotics, decompression)

3. Postoperative Care

  • Monitoring for complications: infection, stricture, anastomotic leak

  • Gradual reintroduction of feeding

  • Anal dilatation (sometimes needed to prevent stricture)

  • Stool management for constipation or soiling

4. Long-Term Management

  • Follow-up for:

    • Bowel function

    • Nutritional status

    • Psychosocial support

  • Treatment of late complications like:

    • Constipation

    • Enterocolitis

    • Incontinence

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