Critical Care Medicine
Gastrointestinal Emergencies: Hirschsprung Disease, Congenital Aganglionic Megacolon
Also known as: Congenital Aganglionic Megacolon
1. Description of the problem
Hirschsprung disease (HD) describes a failure of neural crest cell migration to the entire colon during intestinal development. The result is an aganglionic segment of colon that is unable to relax, causing obstruction and the potential for severe complications.
Delay/failure of passage of stools (including meconium)
Chronic constipation in children/adults with low-segment HD.
Rectal biopsy - The gold standard of HD diagnosis is a rectal biopsy, with absent ganglion cells often confirmed by elevated acetylcholinesterase activity in special staining and hypertrophic nerve fibers. Rectal suction biopsy are often sufficient and can be done without general anesthesia. If nondiagnostic, a full-thickness biopsy may be necessary.
Abdominal X-ray - A distal intestinal obstruction with dilated bowel loops often suggests HD and identifies the likely transition zone
Contrast enema - A sharp transition zone often in the recto-sigmoid colon suggests the diagnosis of HD and can help surgeons locate the transition point or suggest the need for a rectal suction biopsy to confirm HD.
Anorectal manometry - especially useful for short-segment HD with the inability to relax the internal anal sphincter with balloon distention of the rectum. If the internal anal sphincter relaxes with balloon distention, HD is excluded.
4. Specific Treatment
Treatment of HD is surgical. If emergent, a colostomy is often necessary prior to a second-stage pull-through. If non-emergent, a one-stage pull-through is possible without a significant increase in the complication rate.
The prognosis or HD after pull-through is excellent, with near-normal anorectal function unless total colonic aganglionosis is present. Fecal incontinence and chronic constipation are the most common long-term complications.
Copyright © 2017, 2013 Decision Support in Medicine, LLC. All rights reserved.
No sponsor or advertiser has participated in, approved or paid for the content provided by Decision Support in Medicine LLC. The Licensed Content is the property of and copyrighted by DSM.
Renal and Urology News Articles
- For Treating Uremic Pruritus, Evidence is Strongest for Gabapentin
- IgG-Degrading Enzyme Desensitizes, Permits HLA-Incompatible Transplant
- Evaluating Practice Options in the Shifting Health Care Landscape
- Melanoma Risk Higher in Kidney Transplant Recipients
- Not All High-Risk Prostate Cancers Are the Same
Sign Up for Free e-newsletters
NEPHROLOGY & UROLOGY NEWS
- Acute Kidney Injury (AKI)
- Chronic Kidney Disease (CKD)
- Contrast Nephropathy
- Cardiovascular Disease (CVD)
- Diabetic Nephropathy
- End-stage Renal Disease (ESRD)
- Lupus Nephritis
- Peritoneal Dialysis
- Secondary Hyperparathyroidism (SHPT)