Hirschsprung's disease
Hirschsprung's disease is a birth defect where nerve cells are missing in parts of the large intestine, causing difficulty passing stool and potentially leading to bowel obstruction, often identified in newborns or infants.
What it is:
- Congenital Condition: Hirschsprung's disease is present at birth, meaning the nerve cells (ganglion cells) in the large intestine (colon) don't develop properly during fetal development.
- Nerve Cell Absence: These missing nerve cells are crucial for the rhythmic contractions that push stool through the intestines.
- Functional Obstruction: Without these nerve signals, the affected part of the colon cannot contract, leading to a build-up of stool and a functional obstruction.
Symptoms:
Newborns:
- Failure to pass meconium (first stool) within 24-48 hours of birth.
- Vomiting, especially green or bile-colored vomit.
- Abdominal distention (swelling).
- Refusal to feed or poor feeding.
- Diarrhea.
Other tips
Older Infants and Children:
- Chronic constipation.
- Abdominal pain or swelling.
- Poor weight gain or failure to thrive.
- Vomiting.
Diagnosis:
- Rectal Biopsy: A tissue sample from the rectum is examined under a microscope to check for the presence of ganglion cells.
- Other Tests: X-rays or other imaging tests may also be used to assess the colon.
Treatment:
- Surgery: The primary treatment for Hirschsprung's disease is surgery to remove the affected part of the colon and restore normal bowel function.
- Surgery: The primary treatment for Hirschsprung's disease is surgery to remove the affected part of the colon and restore normal bowel function.
- Pull-Through Procedure: A common surgical procedure involves pulling the healthy part of the colon down through the anus to restore normal bowel function.
- Ostomy: In some cases, a temporary or permanent ostomy (opening in the abdomen) may be needed to allow stool to pass outside the body.
Complications:
- Enterocolitis: Inflammation of the colon, which can be life-threatening.
- Toxic Megacolon: A serious condition where the colon becomes severely dilated and inflamed.
- Bowel Obstruction: A blockage of the intestines.
Types of Hirschsprung's Disease:
- Short-segment: Nerve cells are missing from a small portion of the colon, usually the rectum and sigmoid colon.
- Long-segment: Nerve cells are missing from a larger portion of the colon.
- Total colonic: Nerve cells are missing from the entire colon.
- Small intestinal: Nerve cells are missing from the colon and parts of the small intestine.
- Total intestinal: Nerve cells are missing from the colon and nearly the entire small intestine.