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Hirschsprung's Disease

Hershey-spring
Picmonic
Hirschsprung’s disease is a congenital disorder in which there is limited or absent intestinal motility due to a lack of ganglion cells in the intestine. The absence of ganglion cells prevents the intestine from receiving appropriate signals from the nervous system, resulting in constant sympathetic stimulation; and therefore, increased bowel tone. Because the intestine is in a contracted state, peristalsis does not occur. Newborns with Hirschsprung’s disease do not pass meconium within the first 24 hours of birth and may also present with a distended abdomen, and a feeding intolerance, or refusal to feed, with bilious vomiting. A digital rectal exam may reveal no stool on the examiner’s finger; however, the exam can stimulate the bowel and subsequently cause forceful expulsion of stool. Interventions to treat the disease include surgical resection of the bowel with the possibility of a temporary colostomy.
9 KEY FACTS
MECHANISM
Congenital Aganglionic Megacolon
Present-from-birth A-gang lions Mega-colon

Hirschsprung’s disease is a congenital disorder in which there is limited or absent intestinal motility due to a lack of ganglion cells in the intestine.

No Peristalsis
No-sign Pear-on-stilts

The deficiency of ganglion cells present in Hirschsprung's disease prevents the intestine from receiving appropriate signals from the nervous system, resulting in constant sympathetic stimulation; and therefore, increased bowel tone. Because the intestine is in a contracted state, peristalsis does not occur.

ASSESSMENT
No Meconium Within 24 Hours
No-sign Meconium-macaroni and 24hr-clock

A newborn’s first stool is called meconium. In a healthy newborn, meconium should be passed within the first 24 hours after birth. An infant that does not pass meconium within 24 to 48 hours after birth, or one that requires digital stimulation to pass meconium should be evaluated for Hirschsprung’s disease.

Refusal to Feed
Refusing to Feed

Neonates with Hirschsprung's disease may exhibit a feeding intolerance, or refusal to feed, with bilious vomiting.

Abdominal Distention
Abdominal Distention

Infants with this disease may have a distended abdomen, due to the retention of stool.

No Stool on Rectal Exam
Clean Finger at Rectum-rectangle Exam

There may be no stool present on the examiner’s finger after a digital rectal exam; however, the exam can stimulate the bowel and subsequently cause forceful expulsion of stool.

Forceful Expulsion of Fecal Material After Exam
Splattered Fecal Material

A digital rectal examination (DRE) may produce enough stimulation to cause forceful expulsion of fecal matter after the exam is complete.

INTERVENTIONS
Surgical Resection
Surgeon

Surgical resection of bowel is typically performed to remove the aganglionic section of the bowel, thus restoring motility and relieving obstruction. Anal stricture and incontinence may occur following a pull-through surgical procedure. Chronic problems of constipation and fecal incontinence may occur after surgery.

Colostomy
Colon-star-mouth

The patient may need a temporary colostomy after surgery is performed to resect the bowel. A colostomy will facilitate waste removal while the bowel heals. The earlier the diagnosis of the condition is made, the proximal bowel may not distend extremely. This allows for a primary pull-through (Soave) surgery and the elimination of needing to have a temporary colostomy.

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