"short segment disease: ~75% *"
"long segment: ~15%"
"total colonic aganglionosis: ~8% (range 2-13%)"
"RET: proto-oncogene for receptor tyrosine kinase (15-35% of sporadic cases)"
"most are heterozygous loss-of-function RET mutations"
"minority (2-3%) are activating RET mutations resulting in multiple endocrine neoplasia type 2A (MEN2A)"
"Although a prenatal diagnosis of Hirschsprung disease can occasionally be suggested if dilated loops of bowel (e.g. fetal colonic dilatation), increased abdominal circumference, polyhydramnios, or echogenic bowel are identified, it is unreliable, and the vast majority of cases of Hirschsprung disease do not have abnormal prenatal ultrasound findings 14."
"Surgical treatment is the removal of the affected aganglionic portion of the colon and rectum, pulling the proximal normal bowel down, and anastomosing it to an intact anal canal 11,16. Approaches vary depending on the length of the aganglionic segment, presence of perforation, local preference etc... 16"
"Surgical treatment is the removal of the affected aganglionic portion of the colon and rectum, pulling the proximal normal bowel down, and anastomosing it to an intact anal canal 11,16. Approaches vary depending on the length of the aganglionic segment, presence of perforation, local preference etc... 16"
Expected headings
"Associations"
"Fluoroscopy"
"Findings are primarily those of a bowel obstruction. The affected bowel is of smaller calibre; thus, depending on the length of the segment affected, variable amounts of colonic distension are present."