Hirschsprung’s Disease (Megacolon) – Nursing Notes

Hirschsprung’s Disease (Megacolon)

Comprehensive Nursing Notes

Overview

Hirschsprung’s disease (also known as congenital aganglionic megacolon) is a congenital disorder characterized by the absence of ganglion cells in the distal colon, resulting in functional intestinal obstruction.

It affects approximately 1 in 5,000 live births and is more common in males than females (4:1 ratio). About 30% of cases are associated with other congenital anomalies or genetic syndromes, particularly Down syndrome (trisomy 21).

Significance

Leading cause of functional intestinal obstruction in neonates
Can lead to life-threatening enterocolitis if untreated
Requires prompt diagnosis and surgical intervention
Long-term follow-up needed for bowel management

Quick Facts

First described by Harald Hirschsprung in 1886
80% of cases diagnosed within first year of life
Short-segment disease (affecting rectosigmoid only) occurs in 80% of cases
Long-segment disease extends proximal to the sigmoid colon
Total colonic aganglionosis occurs in 5-10% of cases

Pathophysiology

Etiology & Developmental Basis

Hirschsprung’s disease results from the failure of neural crest cell migration during embryonic development (typically between weeks 5-12 of gestation). This leads to the absence of ganglion cells in the submucosal (Meissner’s) and myenteric (Auerbach’s) plexuses of the intestinal wall.

Figure 1: Pathophysiology of Hirschsprung’s Disease showing normal vs. aganglionic segment

Abnormal Findings

Aganglionosis: Absence of ganglion cells in affected bowel segments
Hypertrophied nerve trunks: Thickened nerve bundles in submucosa
Increased acetylcholinesterase activity: Detectable on histochemical staining
Transition zone: Area between normal and aganglionic bowel
Proximal dilation: Distended colon proximal to aganglionic segment

Functional Consequences

Loss of coordinated peristalsis: Inability to propel intestinal contents
Persistent contraction: Tonic contraction of affected segment
Functional obstruction: Mechanical blockage of intestinal transit
Fecal stasis: Accumulation of stool proximal to obstruction
Bacterial overgrowth: Risk of enterocolitis due to stasis

Genetic Factors

Several genes have been implicated in Hirschsprung’s disease, with RET proto-oncogene mutations being the most common (found in 50% of familial cases and 15-20% of sporadic cases). Other genes include GDNF, EDNRB, EDN3, and SOX10.

Classification Based on Extent of Aganglionosis

Type	Description	Frequency	Clinical Significance
Short-segment	Involves rectum and distal sigmoid colon only	80%	Better prognosis, simpler surgical approach
Long-segment	Extends proximal to sigmoid colon but not total colon	15%	More complex surgery, higher complication risk
Total colonic	Involves entire colon, may extend into small bowel	5%	Most challenging to manage, poorest functional outcomes
Total intestinal	Entire colon and significant small bowel involvement	<1%	Extremely rare, may require intestinal transplantation

Clinical Manifestations

The clinical presentation of Hirschsprung’s disease varies depending on the extent of intestinal involvement and the age at diagnosis. Most cases are diagnosed in the neonatal period, but some may present later in infancy or childhood.

Neonatal Presentation

Failure to pass meconium within 24-48 hours of birth (90% of normal infants pass meconium within 24 hours)
Abdominal distention
Bilious vomiting
Reluctance to feed
Signs of intestinal obstruction
Enterocolitis (in severe cases)

Infant Presentation

Chronic constipation
Abdominal distention
Failure to thrive
Infrequent, explosive bowel movements
Ribbon-like stools
Intestinal obstruction episodes
Enterocolitis (progressive, potentially fatal)

Older Child Presentation

Chronic severe constipation
Significant abdominal distention
Growth delay
Malnutrition
Overflow fecal incontinence
Palpable fecal mass
History of constipation since birth

Classic Clinical Triad (Present in ~25% of cases)

Abdominal Distention

Bilious Vomiting

Failure to Pass Meconium

Hirschsprung-Associated Enterocolitis (HAEC) – Medical Emergency!

HAEC is a life-threatening complication that can occur before or after surgical treatment.

Explosive diarrhea
Abdominal distention
Fever
Lethargy
Vomiting
Can progress to septic shock and intestinal perforation
Mortality rate: 30% if untreated

Diagnosis

Diagnosis of Hirschsprung’s disease involves clinical suspicion based on symptoms, followed by specialized imaging studies and ultimately confirmation by histopathologic examination.

Initial Diagnostic Approach

Clinical Evaluation

Detailed history (delayed passage of meconium, constipation)
Physical examination (abdominal distention, vomiting)
Digital rectal examination (typically reveals empty rectum)
Explosive stool release after rectal exam (characteristic)

Laboratory Studies

CBC with differential (to evaluate for infection/inflammation)
Electrolytes (to assess for dehydration)
Arterial blood gases (in severe cases)
Stool cultures (to rule out infectious causes)

Imaging Studies

Plain Abdominal X-ray

Shows dilated loops of bowel
Air-fluid levels
Paucity of air in rectum

Contrast Enema

Key diagnostic imaging study
Shows narrowed distal segment (aganglionic)
Dilated proximal segment (ganglionic)
Transition zone between narrow and dilated segments
Retention of contrast for >24 hours

Figure 2: Contrast enema showing characteristic transition zone (arrow) between the narrow aganglionic segment and dilated proximal bowel

Confirmatory Testing (Gold Standard)

Rectal Biopsy

Full-thickness or suction rectal biopsy is the definitive diagnostic test for Hirschsprung’s disease.

Histopathologic Findings

Absence of ganglion cells in submucosal (Meissner’s) plexus
Absence of ganglion cells in myenteric (Auerbach’s) plexus
Hypertrophied nerve trunks
Increased acetylcholinesterase activity (special stain)

Biopsy Types

Suction biopsy: Less invasive, obtains submucosa only
Full-thickness biopsy: Surgical, provides both submucosa and myenteric plexus
Biopsies taken 2-3 cm above dentate line (to avoid physiologic hypoganglionosis)
Multiple biopsies may be needed to identify transition zone

Histological findings in Hirschsprung's Disease

Figure 3: Histopathologic findings showing absence of ganglion cells and hypertrophied nerve trunks in submucosa

Additional Diagnostic Studies

Anorectal Manometry

Used in older children; shows absence of the rectoanal inhibitory reflex (RAIR).

Genetic Testing

May be considered in familial cases or when associated with syndromes.

Treatment & Management

The definitive treatment for Hirschsprung’s disease is surgical intervention to remove or bypass the aganglionic segment. Management involves preoperative stabilization, surgical correction, and long-term follow-up.

Preoperative Management

Bowel decompression: Rectal irrigation with normal saline
Nutritional support: May require parenteral nutrition
Fluid and electrolyte replacement
Antibiotics: If enterocolitis is present
Temporary colostomy: May be needed in emergency situations

Management of Enterocolitis

Bowel rest: NPO status
Aggressive rectal irrigations: Every 6-8 hours
IV fluids and electrolyte replacement
Broad-spectrum antibiotics: Coverage for anaerobes
Monitoring for sepsis
Emergency surgery: If perforation occurs

Surgical Approaches

Several surgical procedures may be used to treat Hirschsprung’s disease. All involve removing or bypassing the aganglionic segment and preserving sphincter function.

Procedure	Description	Advantages	Considerations
Swenson Procedure	Resection of aganglionic segment with end-to-end anastomosis	Original procedure, proven long-term results	Risk of damage to pelvic nerves, technically challenging
Duhamel Procedure	Aganglionic rectum left in place, ganglionic colon pulled behind and anastomosed side-to-side	Lower risk of pelvic nerve damage	Potential for stool trapping in rectal pouch
Soave (Endorectal Pull-through)	Mucosa of aganglionic rectum removed, ganglionic colon pulled through muscular sleeve	Preserves rectal muscle, reduces risk to pelvic structures	Technically demanding, potential for cuff abscess
Transanal Endorectal Pull-through	Similar to Soave but performed entirely through the anus	No abdominal incision, shorter hospital stay	Limited to shorter segment disease
Laparoscopic-Assisted Pull-through	Combines minimally invasive abdominal approach with transanal technique	Minimal scarring, faster recovery	Requires specialized equipment and training

Figure 4: Illustration of pull-through procedure for Hirschsprung’s Disease

Staged vs. Primary Procedures

Staged Approach

Initial colostomy: Temporary diversion proximal to aganglionic segment
Definitive pull-through: Performed when infant is stable and larger
Colostomy closure: Final stage after successful pull-through
Often used for: Premature infants, enterocolitis, long-segment disease

Primary (Single-Stage) Approach

Definitive repair without prior colostomy
Increasingly common with modern techniques
Can be performed in neonatal period
Benefits: Single operation, avoids stoma complications
Best for: Stable infants, short-segment disease

Long-Term Management

Constipation Management

Dietary modifications (high fiber)
Adequate hydration
Laxatives or stool softeners
Regular toilet schedule

Fecal Incontinence

Bowel management program
Timed enemas
Biofeedback training
Dietary adjustments

Monitoring

Regular follow-up with pediatric surgeon
Growth and nutritional assessment
Monitoring for late complications
Psychosocial support

Long-Term Complications

Enterocolitis: Can occur even after surgical correction (5-35% of patients)
Constipation: Most common long-term complication (30-50%)
Fecal incontinence: May affect quality of life significantly
Stricture: At the anastomosis site
Adhesive bowel obstruction
Failure to thrive: Due to persistent feeding problems
Functional megacolon: Due to transition zone issues

Nursing Management & Care Plan

Nursing care for patients with Hirschsprung’s disease is focused on preoperative care, postoperative management, and long-term support. The nursing process follows the framework of assessment, diagnosis, planning, implementation, and evaluation.

Key Nursing Assessments

Preoperative Assessment

Abdominal assessment (distention, bowel sounds, visible peristalsis)
Stool patterns and characteristics
Nutritional status and weight
Fluid and electrolyte balance
Signs of enterocolitis (fever, diarrhea, lethargy)
Vomiting (frequency, character)
Parent-infant bonding

Postoperative Assessment

Vital signs (monitor for infection, pain, dehydration)
Abdominal assessment (distention, bowel sounds)
Surgical site (signs of infection, dehiscence)
Stoma function (if present)
Bowel function (first passage of stool, consistency)
Pain assessment
Fluid and nutrition intake
Family coping and understanding of care

Nursing Diagnoses

Nursing Diagnosis	Related Factors	Defining Characteristics
Risk for Deficient Fluid Volume	Vomiting, diarrhea, inadequate oral intake, fluid losses from GI tract	Decreased urine output, dry mucous membranes, poor skin turgor, altered electrolytes
Impaired Skin Integrity	Surgical incision, ostomy, frequent stooling or diarrhea	Disruption of skin surface, perianal excoriation, stomal complications
Imbalanced Nutrition: Less Than Body Requirements	Decreased oral intake, intestinal dysfunction, increased metabolic demands	Weight loss, failure to thrive, poor wound healing, decreased appetite
Constipation/Diarrhea	Intestinal dysmotility, surgical alterations, enterocolitis	Change in bowel pattern, abdominal distention, explosive bowel movements
Risk for Infection	Surgical procedure, invasive lines, enterocolitis	Fever, redness at surgical site, purulent drainage, elevated WBC
Anxiety (Parental)	Chronicity of condition, invasive procedures, uncertain prognosis	Expressed concerns, questions, apprehension, increased tension
Deficient Knowledge	New diagnosis, complex care requirements, unfamiliarity with condition	Questions, misconceptions, improper care techniques, verbalized concern

Nursing Interventions

Preoperative Interventions

Maintain NPO status as ordered prior to surgery
Administer IV fluids to maintain hydration and electrolyte balance
Perform rectal irrigations as ordered to decompress bowel
Monitor vital signs and abdominal assessment q4h
Prepare parents for surgical procedure and expected outcomes
Administer prophylactic antibiotics as ordered
Maintain accurate I&O (input and output) record
Provide emotional support to child and family

Postoperative Interventions

Monitor vital signs frequently per protocol
Assess pain and administer appropriate analgesics
Maintain IV fluids until oral intake is adequate
Assess surgical site/stoma for complications
Monitor for return of bowel function (passage of flatus, stool)
Advance diet as tolerated per protocol
Provide stoma care if present (colostomy/ileostomy)
Maintain surgical drains if present
Prevent pressure injuries through frequent repositioning
Monitor for signs of enterocolitis (distention, fever, explosive diarrhea)

Stoma Care (If Present)

Assess stoma for color, size, and viability (should be pink to red)
Measure stoma size for appropriate appliance fitting
Change ostomy appliance every 3-5 days or as needed
Empty ostomy pouch when 1/3 to 1/2 full
Protect peristomal skin with barrier products
Teach parents stoma care techniques
Document stoma output (amount, consistency, color)

Family Education & Discharge Planning

Teach parents to recognize signs of complications (enterocolitis, obstruction)
Provide written instructions for home care
Demonstrate and have parents return-demonstrate stoma care (if applicable)
Discuss dietary needs and bowel management strategies
Review medication administration (stool softeners, laxatives as needed)
Provide contact information for healthcare team
Schedule follow-up appointments
Refer to community resources and support groups
Connect with home care nursing if needed

Warning Signs to Teach Parents

Instruct parents to seek immediate medical attention if any of these occur:

Fever (>38.0°C or 100.4°F)
Increasing abdominal distention
Explosive or foul-smelling diarrhea
Vomiting
Lethargy or irritability

Bloody stools
Decreased urine output
Excessive crying or signs of pain
Refusal to eat
Changes in stoma appearance (if present)

Expected Outcomes

Short-Term Outcomes

Maintains adequate hydration status
Returns to preoperative weight
Surgical site heals without complications
Establishes regular bowel pattern
Parents demonstrate proper stoma care (if applicable)
Pain is effectively managed

Long-Term Outcomes

Achieves normal growth patterns
Maintains bowel continence appropriate for age
Absence of recurrent enterocolitis
Family demonstrates competence in all aspects of care
Successfully adapts to living with chronic condition
Meets developmental milestones

Memory Aids & Mnemonics

H-I-R-S-C-H-S-P-R-U-N-G

Use this mnemonic to remember the key features of Hirschsprung’s disease:

H – Hypertrophied nerve trunks in submucosa

I – Intestinal obstruction symptoms

R – Rectal biopsy for diagnosis

S – Sigmoid colon most commonly affected

C – Congenital condition

H – Harald Hirschsprung first described it

S – Surgery is the definitive treatment

P – Pull-through procedures are common

R – RET gene mutations common

U – Usually diagnosed in infancy

N – No ganglion cells in affected segment

G – Genetic associations (Down syndrome)

NO GANGLION

Remember the clinical presentations with this mnemonic:

N – No passage of meconium in 48 hours

O – Obstruction symptoms

G – Growth failure

A – Abdominal distention

N – Nausea and vomiting

G – Green bilious vomiting

L – Lethargy (if enterocolitis)

I – Irregular bowel movements

O – Overflow incontinence

N – Nursing difficulties

HAEC Warning Signs: FEVER

Remember the warning signs of Hirschsprung-Associated Enterocolitis:

F – Fever (>38.0°C)

E – Explosive diarrhea

V – Vomiting

E – Extended abdomen (distention)

R – Refusal to feed & Restlessness

Concept Map: Hirschsprung’s Disease

References & Further Reading

National Institute of Diabetes and Digestive and Kidney Diseases. (2023). Hirschsprung Disease. https://www.niddk.nih.gov/health-information/digestive-diseases/hirschsprung-disease
Mayo Clinic. (2024). Hirschsprung’s disease. https://www.mayoclinic.org/diseases-conditions/hirschsprungs-disease/symptoms-causes/syc-20351556
Demarest, L. (2023). Hirschsprung disease: What the nurse needs to know. Nursing made Incredibly Easy, 21(2), 46-51.
Kessmann, J. (2006). Hirschsprung’s disease: diagnosis and management. American Family Physician, 74(8), 1319-1322.
Nurseslabs. (2024). Hirschsprung Disease (Aganglionic Megacolon). https://nurseslabs.com/hirschsprung-disease-aganglionic-megacolon/
Pathology Outlines. (2022). Colon – Hirschsprung disease. https://www.pathologyoutlines.com/topic/colonhirschsprung.html
TeachMe Paediatrics. (2019). Hirschsprung’s disease – Pathophysiology. https://teachmepaediatrics.com/surgery/abdominal/hirschsprungs-disease/
Langer, J. C. (2020). Hirschsprung disease. Current Opinion in Pediatrics, 32(3), 391-395.