Hirschsprung disease is most commonly diagnosed in the first year of life.
Presents with vomiting, abdominal distension, and/or enterocolitis.
May be associated with Down syndrome and multiple endocrine neoplasia type IIA.
Definitive diagnosis is with a rectal biopsy.
Initial treatment is bowel irrigation, followed by a definitive surgical treatment, either transanally alone or with laparoscopic assistance. Rarely, colostomy or ileostomy is required to manage severe enterocolitis, with definitive pull-through delayed.
Irrigations often do not work for patients with total colonic Hirschsprung disease. Total colectomy with ileo-procto anastomosis and a protective ileostomy is recommended at the time of diagnosis. The ileostomy is closed after the child is toilet trained for urine and can accept rectal irrigations.
A congenital condition characterized by partial or complete colonic functional obstruction associated with the absence of ganglion cells. Because of the aganglionosis, the lumen is tonically contracted, causing a functional obstruction. The aganglionic portion of the colon is always located distally, but the length of the segment varies. This determines the varied manifestations of the disease. The vast majority of patients present in the newborn period up to 1 year of age. Diagnosis later in life occurs rarely.
History and exam
Key diagnostic factors
- explosive passage of liquid and foul stools
- abdominal distension
- delayed passage of meconium
- failure to thrive
Other diagnostic factors
- septic shock
- Down syndrome
- multiple endocrine neoplasia type IIA
- male sex
- gene mutations (chromosome 10 and 21)
1st investigations to order
- plain abdominal x-ray
- contrast enema
Investigations to consider
- rectal biopsy
- anorectal manometry
typical (rectosigmoid)/long-segment disease: without enterocolitis
typical (rectosigmoid)/long-segment disease: with enterocolitis
total colonic aganglionosis
- Meconium-plug syndrome
- Cystic fibrosis (meconium ileus)
- Small left colon syndrome
- Guidelines for the diagnosis and management of Hirschsprung-associated enterocolitis
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