Here is some information about congenital megacolon ¹ ² ³:
- *What is congenital megacolon?*: Congenital megacolon, also known as Hirschsprung's disease, is a birth defect in which nerves are missing from parts of the intestine. This occurs when there is a defect in the craniocaudal migration of neuroblasts originating from the neural crest that occurs during the first 12 weeks of gestation.
- *Symptoms*: The symptoms of congenital megacolon include constipation, vomiting, abdominal pain, diarrhea and slow growth.
- *Complications*: The disorder may occur by itself or in association with other genetic disorders such as Down syndrome. About half of isolated cases are linked to a specific genetic mutation, and about 20% occur within families.
- *Diagnosis*: Diagnosis is based on symptoms and confirmed by biopsy.
- *Treatment*: Treatment is generally by surgery to remove the affected section of bowel. The surgical procedure most often carried out is known as a "pull through." Occasionally, an intestinal transplantation may be recommended.
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