General Information About Hirschsprung's Disease
Disease Details and Frequently Asked Questions
It is a condition where the nerve network responsible for the pushing and contracting movements of the intestine fails to reach the final part of the large intestine during fetal development, resulting in that section of the bowel remaining completely rigid and paralyzed.
It is an entirely genetic and embryological developmental defect. It is caused by mutations in certain genes, such as the RET gene. Those with a family history of this disease are at a higher risk.
The most typical signs are a newborn baby's inability to pass its first stool (meconium) within the first 48 hours, massive abdominal swelling, vomiting bile (green), and refusing to feed.
If the blockage cannot be cleared, the stool accumulating above the paralyzed section excessively dilates the intestine and disrupts its blood supply. This situation can lead to the bowel perforating and fatal blood poisoning (sepsis).
A contrast-enhanced barium enema X-ray is taken. For a definitive diagnosis, a small tissue sample is taken from the rectum (Rectal Biopsy) and examined under a pathology microscope; if the absence of nerve cells is detected, the diagnosis is confirmed.
There is no medication for the disease; the only treatment is surgery. A pediatric surgeon cuts out and completely removes the non-functioning (nerve-lacking) part of the bowel and stitches the healthy upper part directly to the anus.
Our health library contents are prepared for informational purposes only and with scientific data available at the time of recording. For all your questions, concerns, diagnosis, or treatment regarding your health, please consult your doctor or a healthcare institution.
