Hirschsprung Disease (Symptoms, Causes, and Treatments) Center

Hirschsprung disease is an inherited condition that is present at birth (congenital) in which the nerves of parts of the large intestine are missing. The primary symptom is constipation. The diagnosis of Hirschsprung disease is made by examining the newborn or child, genetic testing, and other test results. Treatment for Hirschsprung disease is surgery, either pull-through procedure for newborns or ostomy for children. Most newborns and toddlers feel much better after surgery.

Other information about Hirschsprung disease.

Hirschsprung disease is a genetic, or inherited, condition. Other symptoms in newborns and toddlers are:

  • Diarrhea, often with blood.
  • Green or brown vomit
  • Abdominal distension
  • Nausea and vomiting
  • Weight loss
  • Sepsis
  • Failure to thrive in infancy
  • Intestinal obstruction
  • Slow growth
  • Intellectual disability

The only treatment for Hirschsprung disease is surgery. Doctors and surgeons treat newborns with a pull-through procedure in which the surgeon removes the part of the large intestine that is missing nerves and connects it to the healthy part of the anus. Toddlers and children require ostomy surgery, in which part of the intestine is brought through the abdominal wall so that feces can leave the body without passing through the anus. The opening in the abdominal wall is called a stoma, and a removable external pouch is attached to it.

Complications can occur with either type of surgery, and may include:

  • Narrowing of the anus
  • Enterocolitis
  • Delayed toilet training
  • Stool leaking from the anus

Hirschsprung disease can be a medical emergency that requires surgery. If your newborn or child has these symptoms listed, contact your OB/GYN or Pediatrician urgently.

REFERENCES:

NIH; National Institute of Diabetes and Digestive Diseases. "Hirschsprung Disease." Updated: Sep 2015.
<https://www.niddk.nih.gov/health-information/digestive-diseases/hirschsprung-disease>

Genetic Home Reference. "Hirschsprung disease." Updated: Jun 27, 2017.
<https://ghr.nlm.nih.gov/condition/hirschsprung-disease#synonyms>

NCBI. "Hirschsprung Disease Overview." Updated: Oct 1, 2015.
<https://www.ncbi.nlm.nih.gov/books/NBK1439/>

NIH; National Center for Advancing Translational Sciences; GARD. "Hirschsprung's disease." Updated: Jun 01, 2017.
<https://rarediseases.info.nih.gov/diseases/6660/hirschsprungs-disease> Read more: Hirschsprung Disease (Symptoms, Causes, and Treatments) Article

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