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Hirschsprung Disease

The absence of ganglion cells in the bowel leads to neonatal obstruction.

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Çocuk Sağlığı ve Hastalıkları department. Book Appointment →

What is Hirschsprung Disease?

Hirschsprung disease (congenital megacolon) is characterized by the absence of submucosal and myenteric plexus ganglion cells in the distal bowel. Its incidence is 1 in 5000 live births and it is 4 times more common in boys.

The aganglionic segment most often involves the rectosigmoid region (80%). Total colonic aganglionosis and long-segment involvement are rarer. Mutations of the RET proto-oncogene play an important role.

It presents in the neonatal period with delayed passage of meconium (>48 hours), abdominal distension, and bilious vomiting. Rectal suction biopsy is the gold standard for diagnosis. Treatment is resection and pull-through surgery.

Symptoms

Delayed passage of meconium (>48 hours)
Abdominal distension
Bilious vomiting
Chronic constipation (in late presentations)
Failure to thrive
Enterocolitis (fever, diarrhea, shock)

Risk Factors

Male sex
Family history
Down syndrome (strong association)
RET gene mutation
MEN2 syndrome
Congenital central hypoventilation syndrome

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Delayed passage of meconium in a newborn (>48 hours)
  • Abdominal distension and bilious vomiting
  • Persistent constipation and failure to thrive
  • Hirschsprung enterocolitis (fever, diarrhea, foul-smelling stools)
  • If there is a family history of HD

Treatment Methods

01
Diagnosis: rectal suction biopsy (absence of ganglion cells)
02
Radiological: contrast enema, anorectal manometry
03
Acute treatment: decompression (enema, colostomy)
04
Surgery: Soave, Duhamel, or Swenson pull-through
05
Single-stage or two-stage approach
06
Postoperative enterocolitis prophylaxis and follow-up

Which Department to Visit?

You can visit our Çocuk Sağlığı ve Hastalıkları department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

Learn About Çocuk Sağlığı ve Hastalıkları Department

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.