What Is Hirschsprung's Disease?
Hirschsprung's disease is a condition some babies are born with. It affects the large intestine and causes problems with passing stool. The issue happens when certain nerve cells (ganglia) are missing in part of the colon. Without these cells, the colon can-t move stool through the bowel properly, leading to blockages and digestive trouble. Early diagnosis and treatment help prevent serious complications.
Common Causes and Risk Factors
- Genetic mutations (such as in the RET gene)
- A family history of Hirschsprung's disease
- Having Down syndrome or other birth defects
Signs and Symptoms
- Newborns who don-t pass their first stool (meconium) within 48 hours
- Chronic constipation
- A swollen belly or frequent gas
- Poor feeding or slow weight gain
- Vomiting, sometimes with a greenish color
- Foul-smelling stools or stool leakage in older children
How Dr. Rishi Diagnoses Hirschsprung's Disease?
Dr. Rishi Chadha follows a detailed, step-by-step approach:
Medical History & Physical Exam
He reviews your child's birth history, symptom timeline, and any family history of Hirschsprung's or related conditions. A thorough abdominal exam checks for distention, tenderness, and anal sphincter tone.
Contrast Enema X-Ray
This imaging study uses a contrast dye to outline the colon. It helps identify a -transition zone- where normal, ganglionated bowel transitions to aganglionic (nerve-cell-deficient) segments.
Rectal Biopsy
The rectal suction or full-thickness biopsy is the gold standard. A small tissue sample is taken from the rectal wall and examined under the microscope to confirm the absence of ganglion cells.
Parent Education & Follow-Up
Dr. Chadha explains each test, answers questions, and reviews results promptly. He works with you to plan next steps-whether that's monitoring, medical management, or surgical referral.
Frequently Asked Questions
What is Hirschsprung's disease?
It's a condition where nerve cells are missing in part of the colon, making it hard for stool to pass.
How common is it?
About 1 in every 5,000 babies is born with Hirschsprung's disease.
How is it diagnosed?
With a physical exam, imaging (like a contrast enema), and a rectal biopsy to confirm missing nerve cells.
What is the main treatment?
Surgery to remove the affected section of bowel that lacks nerve cells.
What is recovery like after surgery?
Most children feel better within 4 to 6 weeks and return to regular eating and play.
How is it different from regular constipation?
Hirschsprung's is present at birth and confirmed by biopsy; regular constipation usually begins later and has different causes.
Can it come back after surgery?
Most children do well long-term. Follow-up care helps manage any lingering symptoms.
Are non-surgical treatments enough?
Diet and medication can relieve symptoms, but surgery is generally required for a complete cure.
Can adults have Hirschsprung's disease?
It's rare but possible; some adults are diagnosed later in life if symptoms were mild or overlooked.
How do I schedule a visit with Dr. Chadha?
Call our office or visit the GastroDoxs website to book a consultation.