🧠 Hirschsprung’s Disease – Simple Explanation
Hirschsprung’s disease is a birth defect that affects the large intestine (colon) and causes problems with passing stool.
🚼 What Is It?
In Hirschsprung’s disease, some parts of the intestine don’t have nerve cells (ganglion cells). These nerve cells are needed for muscles in the bowel wall to push stool through (a movement called peristalsis). Without them, the affected section stays tight and cannot relax, leading to blockage.
👶 Who Gets It?
- It is present at birth (congenital)
- More common in boys than girls
- Sometimes linked to genetic conditions like Down syndrome
🧪 Cause
- Happens during fetal development: nerve cells fail to develop in part of the bowel
- Exact reason is unknown, but it can be inherited
🔍 Symptoms
Symptoms depend on age and how much of the intestine is affected.
In newborns:
- Failure to pass meconium (first stool) within 48 hours of birth
- Swollen belly
- Vomiting (sometimes greenish)
- Constipation
- Feeding problems
In older infants/children:
- Chronic constipation
- Poor weight gain
- Abdominal swelling
- Infrequent but explosive bowel movements
🩺 Diagnosis
- Abdominal X-rays or barium enema
- Anorectal manometry (measures muscle function)
- Rectal biopsy (confirms absence of nerve cells – the gold standard)
💉 Treatment
The only cure is surgery:
- Pull-through procedure: the section of the bowel without nerves is removed, and the healthy part is reconnected to the anus.
- In some severe cases, a temporary colostomy may be done first.
🩹 Long-Term Outlook
- Most children do very well after surgery
- Some may have issues with:
- Constipation
- Diarrhea
- Bowel control problems (infrequent)