Hirschsprung Disease NCLEX Questions | AIIMS NORCET Nursing Quiz with Answers 

Hirschsprung disease is the most common congenital disorder affecting gut motility, with an incidence of approximately 1 in 5000 births. It is characterized by the absence of ganglion cells in the submucosal and myenteric plexuses of the distal intestine, leading to a functional obstruction due to the tonic contraction of the affected segment (1,2). The disease primarily affects the distal rectum, with the aganglionic segment extending proximally to varying lengths. It is a multigenic disorder that may be familial or sporadic, with Down syndrome being a common associated condition1,2.

Hirschsprung disease is classified based on the extent of the affected intestine. In about 75% of cases, the disease is limited to the colon distal to the splenic flexure (short-segment disease), while 20% of cases involve the colon proximal to the splenic flexure, and 5% have total colonic or small bowel involvement1,3.

Clinical Presentation and Diagnosis

Affected neonates typically present with constipation and signs of distal bowel obstruction soon after birth. About 60-90% of infants with Hirschsprung disease fail to pass meconium within the first 48 hours of life (1,2). In some cases, the diagnosis is delayed, and the child presents later with chronic constipation, failure to thrive, and episodes of enterocolitis, characterized by diarrhoea containing blood and mucus. A rectal examination often reveals an empty rectum, followed by a sudden release of liquid stool upon withdrawal of the examining finger1,2

Diagnostic evaluation includes:

• Plain X-ray abdomen: Shows bowel distension with multiple air-fluid levels and reduced air in the pelvic region1,2.

• Barium enema: Reveals a narrowed aganglionic segment, a transition zone, and a dilated proximal bowel1,2.

• Anorectal manometry: Demonstrates the absence of the rectoanal inhibitory reflex, which is highly suggestive of Hirschsprung disease1,3.

• Rectal biopsy (gold standard): Confirms the absence of ganglion cells in the myenteric and submucosal plexuses1,3. Hypertrophied nerves with increased acetylcholinesterase activity are also seen in the aganglionic segment.

Management:

Treatment depends on the timing of diagnosis and is primarily surgical. Medical management focuses on stabilizing the patient and managing enterocolitis episodes. Surgical intervention involves the resection of the aganglionic bowel segment, followed by a pull-through procedure to connect the normal ganglionic bowel close to the anal margin while preserving the sphincter mechanism for continence1,2. In delayed cases, an initial colostomy may be performed to relieve obstruction, followed by definitive surgery at a later stage1,2.

Recent advances have led to less invasive techniques such as laparoscopic and single-stage pull-through procedures, replacing the traditional multi-stage approach. Although most patients experience significant improvement, about two-thirds may still have some degree of constipation or continence issues in the long term1,2. 

References

1. Ghai OP. Essential Paediatrics. 10th ed. New Delhi: CBS Publishers; 2022.

2. Hockenberry MJ, Wilson D. Wong’s Essentials of Paediatric Nursing. 11th ed. St. Louis: Elsevier; 2021.

3. Kashimura H, Nakahara A, Fukutomi H. Hirschsprung’s disease, neuronal intestinal dysplasia, hypoganglionosis. Nihon Rinsho. 1994 Dec;Suppl 6:35-7. Japanese. PMID: 7837495.

4. Roy S, Mathur A, Pati AB. Conventional and emerging technologies for combating Hirschsprung’s disease: The scope of electroanalytical sensing modalities. Sensors International. 2022;3:100184. doi: 10.1016/j.sintl.2022.100184.

5. Mc CR, Ms FC, Piñera JG, Gutiérrez-Junquera C, Jm PF. Neurocrestopatías: Alta frecuencia de disgenesias cerebrales en pacientes con enfermedad de Hirschsprung. Rev Neurol. 2007;45(12). doi: 10.33588/rn.4512.2007256.

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