Aganglionosis- total intestinal

Synonyms

Rare form of Hirschsprung's disease, Aganglionosis, total colonic, Near-total intestinal aganglionosis, TIA, NTIA,

Overview

A developmental defect of the intestinal tract where the muscles of the intestines are unable to function and move food along the digestive tract. This form of Hirschsprung disease is differentiated from the other types by the location of the genetic defect

Symptoms

Severe constipation Intestinal blockage Enlarged colon

Causes

  • Atherosclerosis

Diagnosis

The prenatal diagnosis of aganglionosis of the colon is extremely rare and was previously reported only twice4,17. Both cases presented with dilated loops of bowel and polyhydramnios. These signs are not specific and the differential diagnosis should include: duodenal, jejunal and ileal atresia; chloride diarrhea and cystic fibrosis

Prognosis

The mortality rate varies according to the extension of the aganglionic segment. It ranges between 5 and 15%5 for patients with the classical form, approximately 40%11,18 for patients with total aganglionosis of the colon and almost 100%19 for those with total intestinal aganglionosis

Resources

  • NIH