Hirschsprung disease (pediatric large intestine paralysis)


Description

A birth defect and disease of infants in which nerve cells in the wall of the large intestine do not develop. These nerve cells control the muscle contractions of the intestines. Without proper muscle contractions (peristalsis) fecal material does pass through the intestines causing obstruction and dilation of the large intestine (colon).

Symptoms

Failure to pass meconium shortly after birth, failure to pass a first stool within 24 - 48 hours after birth, poor weight gain, swollen belly, vomiting, watery, explosive, diarrhea (in the newborn), constipation.

Tests

Common tests used for diagnosis and treatment

Workup:
A history and physical exam will be performed. Additional tests to establish the diagnosis may include: anal manometry (a balloon is inflated in the rectum to measure the pressure), barium enema, and/or rectal biopsy.

Tests:
Complete blood count (CBC), Comprehensive metabolic panel (CMP), X-ray

Other Specific Tests: Anal manometry, barium enema, rectal biopsy

Specialists:
Pediatric Surgery

Treatment

Treatment includes intravenous fluids, and surgical removal of the affected intestine.
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