Case report: Neonatal Hirschsprung disease
Gayathri1, RN Gowdham P2
1Staff Nurse, Kauvery Hospital, Marathahalli, Bangalore
2Nurese Educator, Kauvery Hospital, Marathahalli, Bangalore
Background
Hirschsprung disease (HD) is a congenital absence of enteric ganglion cells in the distal intestine, producing functional obstruction. Incidence is about 1 in 5,000 live births, with a male-to-female ratio of 4:1. The disorder results from failure of vagal neural crest cell migration between the 5th and 12th gestational week. Early recognition is vital to avoid complications such as enterocolitis, perforation, and sepsis.
Case Presentation
A male neonate was delivered at 37 + 1 weeks, birth weight 3.42 kg, via normal vaginal delivery. He failed to pass meconium within 24 hours, developed progressive abdominal distension, and had repeated bilious vomiting.
On examination
Abdomen tense and distended, bowel sounds diminished, and anal opening normal but tight.
Investigations
Abdominal X-ray: markedly dilated bowel loops with multiple air–fluid levels.
Rectal suction biopsy: Absence of ganglion cells in the submucosal (Meissner) and myenteric (Auerbach) plexus.
Routine labs: Electrolytes and CBC were within normal limits.
Anatomy and Physiology
- Normal Large Intestine Anatomy
- Segments: Cecum, ascending, transverse, descending, sigmoid colon, rectum.
- Layers: Mucosa, submucosa (with Meissner plexus), muscularis externa (circular + longitudinal with Auerbach plexus), serosa.
Physiology of Intestinal Motility
- Coordinated contraction of circular and longitudinal muscle produces peristalsis.
- Myenteric plexus (Auerbach) regulates motility; Submucosal plexus (Meissner) modulates secretion and blood flow.
- Parasympathetic stimulation (via vagus and pelvic splanchnic nerves) promotes motility.
Pathophysiology
Failure of neural crest cell migration leads to aganglionosis, typically in the rectosigmoid region. Without ganglion cells:
- The affected segment remains tonically contracted.
- Proximal bowel becomes dilated and hypertrophied.
- Functional obstruction causes abdominal distension, delayed meconium passage, and bilious vomiting.
↓
Absence of ganglion cells in distal bowel
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Loss of inhibitory enteric neurons
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Tonic contraction of aganglionic segment
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Functional obstruction & proximal dilation
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Clinical signs: delayed meconium, distension,
bilious vomiting, feeding intolerance
Comparison of normal and abnormal physiological function
| Aspect | Normal Physiology | Hirschsprung Disease (Pathology) |
|---|---|---|
| Neural Development | Vagal neural crest cells migrate caudally to form the submucosal (Meissner) and myenteric (Auerbach) plexus throughout the entire colon. | Migration stops prematurely; distal colon/rectum lacks ganglion cells (aganglionosis). |
| Peristalsis | Coordinated contractions of circular & longitudinal muscle layers, driven by Auerbach plexus, propel stool toward rectum. | Absent inhibitory neurons → tonic contraction of distal segment → functional obstruction. |
| Secretion & Blood Flow | Meissner plexus regulates mucosal secretions and local blood supply, ensuring smooth passage of contents. | Lack of submucosal neurons reduces secretory activity; contributes to hard stools and stasis. |
| Meconium Passage | Normally passed within first 24–48 hours after birth. | Delayed or absent meconium passage. |
| Bowel Appearance | Uniform caliber from cecum to rectum. | Proximal bowel becomes dilated and hypertrophied; distal segment narrows and contracted. |
| Clinical Result | Regular feeding, normal stooling pattern. | Abdominal distension, bilious vomiting, failure to thrive, risk of enterocolitis. |
Clinical manifestation
| Textbook Features | Patient Findings |
|---|---|
| Failure to pass Meconium <48 h | Present |
| Progressive abdominal distension | Present |
| Bilious vomiting | Present |
| Feeding intolerance | Present |
| Explosive stools after rectal exam | Not elicited |
| Enterocolitis signs (fever, diarrhea) | Absent |
Surgical Management of Hirschsprung Disease
Goals of Surgery
- Resection of aganglionic colon to eliminate the functional obstruction.
- Restoration of intestinal continuity and motility to permit normal stool passage.
- Prevention of life-threatening complications such as enterocolitis, perforation, and sepsis.
Timing of Surgery
- Emergency Stage: Indicated when a neonate presents with marked abdominal distension, bilious vomiting, or failure to pass meconium, and cannot be stabilized with rectal irrigations alone.
- Elective Stage: Definitive pull-through once the infant is thriving and the bowel is decompressed, usually at 3–6 months of age.
Case-Specific Procedure Performed
- Exploratory Laparotomy with High Divided (Double-Barrel) Colostomy
Indication
- The baby presented with complete distal intestinal obstruction, severe distension, and bilious vomiting. Imaging revealed massively dilated proximal colon and biopsy confirmed aganglionosis.
Operative Steps
- Transverse infra-umbilical incision under general anaesthesia.
- Inspection of the entire colon to identify the transition zone.
- Intra-operative frozen-section biopsies to confirm the proximal margin of ganglionated bowel.
- Formation of a high divided colostomy: proximal end for fecal diversion; distal mucous fistula for decompression and later contrast/washout.
Immediate Post-operative Care
- Airway, fluid and electrolyte management.
- Nasogastric decompression until bowel sounds returned.
- Broad-spectrum antibiotics and analgesia.
- Stoma care: colour, viability, output monitoring.
Rationale for choosing this staged approach
| Decision Factor | Justification |
|---|---|
| Severe neonatal obstruction | Required urgent decompression to prevent perforation or enterocolitis. |
| Need for direct bowel assessment | Laparotomy allowed visualization of the transition zone and frozen-section biopsy |
| High risk of anastomotic leak | Dilated, fragile bowels are unsuitable for immediate pull-through. |
| Low neonatal reserves | Diversion permits weight gain and nutritional recovery before definitive repair. |
| Institutional preference | Staged repair is standard for unstable neonates in many pediatric centers. |
Other Definitive Surgical Options
| Procedure | Key Feature | Main Advantage | Limitation |
|---|---|---|---|
| Swenson Pull-Through | Complete resection to dentate line | Removes all aganglionic bowel | Possible pelvic nerve injury |
| Soave Endorectal Pull-Through | Mucosal sleeve preserved | Protects pelvic nerves | Risk of residual aganglionic cuff |
| Duhamel Procedure | Retrorectal side-to-side anastomosis | Good for long-segment disease | Faecal stasis in residual pouch |
| Single-Stage Trans anal/Laparoscopic Pull-Through | No preliminary stoma | Avoids second surgery | Only for stable, short-segment disease |
Nursing Management
Pre-operative
- Parental education about the procedure and stoma care.
- Nasogastric decompression; strict monitoring of abdominal girth.
Post-operative
- Inspect stoma for colour, edema, bleeding; maintain peristomal skin integrity with barrier creams.
- Monitor output, replace fluid/electrolyte losses, daily weights.
- Early detection of infection or enterocolitis.
- Gradual reintroduction of breast milk/feeds.
- Ongoing parental training for home stoma care and signs of complications.
Follow-Up and Definitive Repair
- Growth and nutritional assessment at each visit.
- Contrast studies through the distal mucous fistula to plan the level of pull-through.
- Definitive Swenson, Soave, or Duhamel pull-through once the infant is thriving.
Medical
- IV fluids, broad-spectrum antibiotics, electrolyte balance.
- Gradual re-initiation of feeds.
Nursing Diagnosis
| Nursing Diagnosis | Goals / Expected Outcomes | Interventions | Evaluation |
|---|---|---|---|
| Risk of infection related to colostomy and surgery | Infant remains afebrile; stoma healthy | Maintain strict asepsis, monitor temperature and WBC, | |
| teach parents stoma care | No signs of infection, stoma pink and moist | ||
| Imbalanced nutrition: less than body requirements | Adequate weight gain | Monitor intake/output, encourage breastfeeding or expressed breast milk, supplement as ordered | Steady weight gain |
| Risk for fluid and electrolyte imbalance | Electrolytes within normal limits | Monitor daily weight, serum electrolytes, urine output, administer IV fluids as prescribed | Electrolyte balance maintained |
| Parental anxiety related to colostomy and future surgery | Parents verbalize understanding and demonstrate stoma care | Provide emotional support, educate regarding procedure, demonstrate and return-demonstration of stoma care | Parents demonstrate confidence in care |
Outcome and Follow-Up
The infant tolerated feeds, maintained weight gain, and showed no signs of infection. Parents were educated on colostomy management and warned of enterocolitis signs. Follow-up visits scheduled for definitive pull-through surgery.
Discussion
Neonatal Hirschsprung disease (HD) should be suspected in term infants with delayed meconium, abdominal distension, and bilious vomiting. Diagnosis relies on rectal biopsy confirming absence of ganglion cells, while imaging helps localize the transition zone. Aganglionic bowel causes obstruction, proximal dilation, and risk of Hirschsprung-associated enterocolitis (HAEC); hence early decompression with colostomy is lifesaving. A staged approach is preferred in unstable neonates with severe obstruction or dilated bowel, as it allows decompression, accurate biopsy mapping, nutritional recovery, and safer definitive pull-through. Single-stage surgery is reserved for stable, short-segment cases. Long-term outcomes are generally good, though complications may include HAEC, stricture, constipation, incontinence, and stoma-related issues. Nursing plays a central role through vigilant stoma care, fluid/electrolyte monitoring, parental education on HAEC warning signs, nutritional support, and psychosocial guidance. Multidisciplinary coordination ensures optimal timing of definitive repair and improved functional recovery.
Research, genetic considerations, and future directions
HD is heterogenous; genetic factors (RET and other genes) contribute to a subset of familial or syndromic cases and may influence disease extent. Formal genetic counselling/testing may be indicated for recurrent or syndromic presentations. Longitudinal outcome research—standardized reporting of HAEC rates, bowel function scores, growth, and quality of life—remains important to refine timing and technique choices (single-stage vs staged, laparoscopic vs open) and to optimize long-term functional outcomes.
Conclusion
Prompt diagnosis and staged surgical management of Hirschsprung disease are lifesaving. Comprehensive nursing care covering stoma management, nutrition, and family education ensures optimal growth and development.
References
- Mueller JL, Ballantyne KN, Heuckeroth RO. The science of Hirschsprung disease: what we know and what we need. Dev Biol. 2022;489:1–11. ScienceDirect
- Yu Q, Teng L, Mah M, et al. Mesenteric neural crest cells are the embryological basis of vagal neural crest‐derived enteric nervous system in the colon. Cell Mol Gastroenterol Hepatol. 2021;12(5):1805–1823. Clinical Medicine and Global Health
- Amiel J, Lyonnet S. Hirschsprung disease, associated syndromes, and genetics: a review. J Med Genet. 2001;38(11):729-39. PMC+1
- Parahita IG, Solikhah TI, Pudyani PS, et al. Comparison of Hirschsprung-associated enterocolitis after pull-through: Duhamel vs Soave. J Pediatr Surg. 2018;53(6):1078-1084. org
- Li T, Zhuang B, Li L, et al. Long-term outcomes for neonates of Hirschsprung’s disease undergoing trans anal Swenson or Duhamel pull-through methods: five-year study. Int J Clin Exp Med. 2018;11(3):2630-2635. E-Century Publishing Corporation
- Carissa TM, Gunadi, Iskandar K, et al. Long-term functional outcomes of patients with Hirschsprung disease following pull-through: Soave, Duhamel and TEPT techniques. BMC Podiatry. 2022;22:246. BioMed Central
- Rialon KL, Maxwell J, Steele SR, et al. Pull-through pitfalls in treating Hirschsprung disease. Semin Pedimat Surg. 2024;33(2):101414. PMC
