From the Guidelines
Hirschsprung's disease is a congenital condition characterized by the absence of nerve cells in a portion of the bowel, leading to severe constipation, intestinal blockage, and potentially life-threatening complications. This condition typically affects the large intestine, where the absence of nerve cells (ganglia) prevents normal muscle contractions and the movement of stool, often requiring surgical intervention to remove the affected portion of the intestine 1. The symptoms of Hirschsprung's disease usually appear shortly after birth and may include failure to pass meconium within 48 hours, abdominal swelling, vomiting, and poor feeding. Key characteristics of the disease include:
- Absence of nerve cells (ganglia) in a portion of the bowel
- Severe constipation and intestinal blockage
- Potential for life-threatening complications like enterocolitis
- Symptoms typically appearing shortly after birth
- Need for surgical treatment to remove the affected portion of the intestine and reconnect healthy segments. Treatment approaches, such as pull-through procedures, can significantly improve outcomes when initiated early, highlighting the importance of prompt diagnosis and intervention 1.
From the Research
Definition and Characteristics of Hirschsprung Disease
- Hirschsprung disease (HSCR) is a rare congenital intestinal disease that occurs in 1 in 5,000 live births 2.
- It is characterized by the absence of ganglion cells in the myenteric and submucosal plexuses of the intestine 2, 3.
- The disease usually presents in infancy, although some patients present with persistent, severe constipation later in life 3.
Symptoms and Diagnosis
- Symptoms in infants include difficult bowel movements, poor feeding, poor weight gain, and progressive abdominal distention 3.
- Diagnosis depends on demonstrating the absence of ganglion cells in rectal biopsy specimens 4.
- Rectal suction biopsy is widely employed as the method of choice in obtaining such specimens 4, 5.
- A rectal suction biopsy can detect hypertrophic nerve trunks and the absence of ganglion cells in the colonic submucosa, confirming the diagnosis 3.
Treatment and Management
- HSCR is typically managed by surgical removal of the aganglionic bowel and reconstruction of the intestinal tract by connecting the normally innervated bowel down to the anus while preserving normal sphincter function 2.
- Several procedures, namely Swenson, Soave and Duhamel procedures, can be undertaken and may include a laparoscopically assisted approach 2.
- Patients should be monitored closely for enterocolitis for years after surgical treatment of Hirschsprung's disease 3.